- Analytes
- EIF2B5
EIF2B5
Name: |
eukaryotic translation initiation factor 2B subunit epsilon
|
Symbol: |
EIF2B5
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
EIF-2B
EIF2Bepsilon
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XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
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- Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
- Ataxia (gene panel)
- Cerebral palsy (gene panel)
- Early onset epileptic encephalopathy (gene panel - 845 genes)
- Epilepsy gene panel
- Hereditary Spastic Paraplegia (gene panel)
- Intellectual disability & Epilepsy (gene panel)
- Leukodystrophy (gene panel)
-
Ataxia (141 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BEAN1 85.90 0 NM_001178020.2 KCNC3 88.90 0 NM_004977.2 SYT14 92.90 0 NM_001146261.2 PTF1A 94.90 0 NM_178161.2 ATXN10 95.40 0 NM_013236.3 ATXN2 96.20 0 NM_002973.3 FXN 96.40 0 NM_000144.4 ATXN3 97.20 0 NM_004993.5 TTC19 98.00 0 NM_017775.3 ATXN7 98.00 0 NM_000333.3 ABHD12 98.00 0 NM_001042472.2 FMR1 98.50 0 NM_002024.5 DAB1 98.80 0 NM_021080.4 CACNA2D2 98.90 0 NM_006030.3 APTX 99.00 0 NM_175073.2 TBP 99.30 0 NM_003194.4 CLN6 99.30 0 NM_017882.2 EIF2B2 99.50 0 NM_014239.3 CP 99.50 0 NM_000096.3 DNMT1 99.50 0 NM_001130823.2 MTPAP 99.50 0 NM_018109.3 PRRT2 99.60 0 NM_145239.2 DARS2 99.70 0 NM_018122.4 PNKP 99.80 0 NM_007254.3 CLCN2 99.80 0 NM_004366.5 PNPLA6 99.80 0 NM_006702.4 CACNA1A 99.80 0 NM_001127221.1 ATN1 99.80 0 NM_001007026.1 AFG3L2 99.80 0 NM_006796.2 AMPD2 99.80 0 NM_001257360.1 TRPC3 99.80 0 NM_001130698.1 GRM1 99.90 0 NM_001278064.1 TPP1 99.90 0 NM_000391.3 CACNA1G 99.90 0 NM_018896.4 ATP8A2 99.90 0 NM_016529.5 NPC1 99.90 0 NM_000271.4 PRKCG 99.90 0 NM_002739.4 SPG7 99.90 0 NM_003119.3 ATXN1 99.90 0 NM_000332.3 IFRD1 99.90 0 NM_001550.3 NKX6-2 99.90 0 NM_177400.2 TK2 99.90 0 NM_004614.4 TGM6 99.90 0 NM_198994.2 COX20 99.90 0 NM_198076.5 SLC9A1 100.00 0 NM_003047.4 TTPA 100.00 0 NM_000370.3 ATP2B3 100.00 0 NM_001001344.2 EIF2B4 100.00 0 NM_015636.3 PEX7 100.00 0 NM_000288.3 ANO10 100.00 0 NM_018075.4 SPTBN2 100.00 0 NM_006946.3 ITPR1 100.00 0 NM_002222.5 RUBCN 100.00 0 NM_001145642.4 PEX10 100.00 0 NM_153818.1 TMEM240 100.00 0 NM_001114748.1 WDR81 100.00 0 NM_001163809.1 CACNB4 100.00 0 NM_000726.4 ATM 100.00 0 NM_000051.3 VWA3B 100.00 0 NM_144992.4 AP1S2 100.00 0 NM_003916.4 SYNE1 100.00 0 NM_033071.3 SCYL1 100.00 0 NM_020680.3 STUB1 100.00 0 NM_005861.3 SLC1A3 100.00 0 NM_004172.4 LAMA1 100.00 0 NM_005559.3 NOP56 100.00 0 NM_006392.3 CYP27A1 100.00 0 NM_000784.3 KCNA1 100.00 0 NM_000217.2 SETX 100.00 0 NM_015046.6 CLN5 100.00 0 NM_006493.2 EIF2B3 100.00 0 NM_020365.4 PUM1 100.00 0 NM_001020658.1 MRE11 100.00 0 NM_005591.3 WWOX 100.00 0 NM_016373.3 GFAP 100.00 0 NM_002055.4 VLDLR 100.00 0 NM_003383.4 GBA2 100.00 0 NM_020944.2 KIF1C 100.00 0 NM_006612.5 CWF19L1 100.00 0 NM_018294.5 CCDC88C 100.00 0 NM_001080414.3 SACS 100.00 0 NM_014363.5 AAAS 100.00 0 NM_015665.5 ABCB7 100.00 0 NM_004299.5 ACO2 100.00 0 NM_001098.2 ARSA 100.00 0 NM_000487.5 ATCAY 100.00 0 NM_033064.4 ATG5 100.00 0 NM_004849.3 ATP1A3 100.00 0 NM_152296.5 CA8 100.00 0 NM_004056.5 CAPN1 100.00 0 NM_001198868.1 COQ8A 100.00 0 NM_020247.4 DNAJC19 100.00 0 NM_145261.3 DNAJC3 100.00 0 NM_006260.4 DNAJC5 100.00 0 NM_025219.2 EEF2 100.00 0 NM_001961.3 EIF2B1 100.00 0 NM_001414.3 EIF2B5 100.00 0 NM_003907.2 ELOVL4 100.00 0 NM_022726.3 ELOVL5 100.00 0 NM_021814.4 EXOSC3 100.00 0 NM_016042.3 FGF14 100.00 0 NM_004115.3 FLVCR1 100.00 0 NM_014053.3 FOLR1 100.00 0 NM_016725.2 GOSR2 100.00 0 NM_004287.4 GRID2 100.00 0 NM_001510.3 HEXA 100.00 0 NM_000520.5 HEXB 100.00 0 NM_000521.3 KCND3 100.00 0 NM_004980.4 KCNJ10 100.00 0 NM_002241.4 MARS2 100.00 0 NM_138395.3 MME 100.00 0 NM_007289.3 MTTP 100.00 0 NM_000253.3 NPC2 100.00 0 NM_006432.3 OPA1 100.00 0 NM_015560.2 PDYN 100.00 0 NM_024411.4 PHYH 100.00 0 NM_006214.3 PIK3R5 100.00 0 NM_001142633.2 PMM2 100.00 0 NM_000303.2 PMPCA 100.00 0 NM_015160.2 POLG 100.00 0 NM_002693.2 POLR3A 100.00 0 NM_007055.3 PPP2R2B 100.00 0 NM_181678.2 PRICKLE1 100.00 0 NM_153026.2 RNF170 100.00 0 NM_001160223.1 RNF216 100.00 0 NM_207111.3 SAMD9L 100.00 0 NM_152703.4 SEPSECS 100.00 0 NM_016955.3 SIL1 100.00 0 NM_022464.4 SLC52A2 100.00 0 NM_024531.4 SNX14 100.00 0 NM_153816.5 SRD5A3 100.00 0 NM_024592.4 TDP1 100.00 0 NM_018319.3 TDP2 100.00 0 NM_016614.2 TTBK2 100.00 0 NM_173500.3 TUBB4A 100.00 0 NM_006087.3 TWNK 100.00 0 NM_021830.4 VAMP1 100.00 0 NM_014231.4 WFS1 100.00 0 NM_006005.3 XRCC1 100.00 0 NM_006297.2 ZNF592 100.00 0 NM_014630.2 ATXN8OS 100.00 0 NG_016173.1 -
Ataxia (348 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABCB7 99.99 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACADVL 98.04 0 No comment ACO2 100.00 0 No comment COQ8A 99.92 0 No comment AFG3L2 94.80 0 No comment AHI1 100.00 0 No comment ALAS2 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH5A1 84.13 0 No comment ALG6 100.00 0 No comment ALS2 100.00 0 No comment AMACR 96.78 0 No comment AMPD2 99.90 0 No comment AMT 100.00 0 No comment ANO10 100.00 0 No comment AP1S2 100.00 0 No comment APTX 99.96 0 No comment ARL13B 99.98 0 No comment ARL6 100.00 0 No comment ARSA 100.00 0 No comment ARX 100.00 0 No comment ASPA 100.00 0 No comment ATCAY 100.00 0 No comment ATG5 100.00 0 No comment ATL1 99.89 0 No comment ATM 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2B2 100.00 0 No comment ATP2B3 99.89 0 No comment ATP7B 100.00 0 No comment ATP8A2 99.91 0 No comment ATXN1 100.00 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment ATXN3 99.47 0 No comment ATXN7 98.67 0 No comment B9D1 99.89 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 99.97 0 No comment BBS5 100.00 0 No comment BBS7 99.99 0 No comment BBS9 99.93 0 No comment BEAN1 100.00 0 No comment BIVM 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment CPLANE1 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1G 99.97 0 No comment CACNB4 99.95 0 No comment CAMTA1 99.98 0 No comment CAPN1 99.97 0 No comment CASK 99.99 0 No comment CC2D2A 100.00 0 No comment CCDC88C 99.64 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CHMP1A 100.00 0 No comment CLCN2 100.00 0 No comment CLN5 98.80 0 No comment CLN6 90.40 0 No comment CLPP 97.95 0 No comment COA7 100.00 0 No comment COASY 100.00 0 No comment COG5 99.95 0 No comment COQ2 99.66 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX20 95.39 0 No comment CP 100.00 0 No comment CRAT 99.29 0 No comment CSTB 98.75 0 No comment CWF19L1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DARS1 100.00 0 No comment DARS2 100.00 0 No comment DDB2 100.00 0 No comment DDHD2 100.00 0 No comment DLAT 100.00 0 No comment DMXL2 100.00 0 No comment DNAJC19 99.65 0 No comment DNAJC3 99.99 0 No comment DNAJC5 100.00 0 No comment DNMT1 99.54 0 No comment EBF3 99.94 0 No comment EEF2 100.00 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 ELOVL4 100.00 0 No comment ELOVL5 100.00 0 No comment EPM2A 97.21 0 No comment ERCC2 99.22 0 No comment ERCC3 100.00 0 No comment ERCC4 99.99 0 No comment ERCC5 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FA2H 95.71 0 No comment FARS2 100.00 0 No comment FBXL4 100.00 0 No comment FDXR 100.00 0 No comment FGF14 100.00 0 No comment FLVCR1 100.00 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FRMD7 99.98 0 No comment FXN 100.00 0 No comment GALC 98.98 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCLC 99.98 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GJC2 96.72 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLRX5 100.00 0 No comment GM2A 100.00 0 No comment GOSR2 100.00 0 No comment GPAA1 95.08 0 No comment GPR143 89.09 0 No comment ADGRG1 99.99 0 No comment GRID2 100.00 0 No comment GRM1 99.99 0 No comment GSS 100.00 0 No comment HARS2 100.00 0 No comment HEPACAM 99.85 0 No comment HERC1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HIBCH 100.00 0 No comment HPRT1 92.71 0 No comment HTRA1 75.65 0 No comment IFRD1 98.86 0 No comment IGDCC3 95.07 0 No comment INPP5E 99.14 0 No comment IRF2BPL 97.56 0 No comment ITM2B 100.00 0 No comment ITPR1 99.99 0 No comment KCNA1 100.00 0 No comment KCNC3 76.20 0 No comment KCND3 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ6 100.00 0 No comment KCNMA1 99.93 0 No comment WASHC5 100.00 0 No comment RUBCN 96.60 0 No comment NEXMIF 100.00 0 No comment KIF1A 98.74 0 No comment KIF1C 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment L2HGDH 99.75 0 No comment LAMA1 99.79 0 No comment LAMB1 100.00 0 No comment LARS2 100.00 0 No comment LMNB1 97.00 0 No comment LRPPRC 98.80 0 No comment LYST 100.00 0 No comment MFSD8 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLC1 98.57 0 No comment MMACHC 100.00 0 No comment MME 100.00 0 No comment MRE11 99.05 0 No comment MSTO1 99.96 0 No comment MTFMT 97.83 0 No comment MTPAP 99.98 0 No comment MTRR 100.00 0 No comment MTTP 100.00 0 No comment MVK 100.00 0 No comment NANS 100.00 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NEFL 99.62 0 No comment NEU1 100.00 0 No comment NHLRC1 96.01 0 No comment NKX6-2 94.10 0 No comment NOL3 100.00 0 No comment NOP56 99.99 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 NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OFD1 97.13 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPHN1 99.94 0 No comment OTUD4 100.00 0 No comment PAX6 100.00 0 No comment PDGFRB 99.98 0 No comment PDHX 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PDYN 100.00 0 No comment PEX10 87.10 0 No comment PEX16 99.97 0 No comment PEX2 100.00 0 No comment PEX7 95.60 0 No comment PHYH 99.81 0 No comment PIK3R5 100.00 0 No comment PLA2G6 100.00 0 No comment PLEKHG4 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMPCA 100.00 0 No comment PNKD 99.93 0 No comment PNKP 99.84 0 No comment PNPLA6 99.95 0 No comment POLG 100.00 0 No comment POLH 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment PPP2R2B 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKCG 100.00 0 No comment PRNP 99.92 0 No comment PRPS1 99.91 0 No comment PRRT2 100.00 0 No comment PTEN 99.45 0 No comment PUM1 100.00 0 No comment RAB18 99.99 0 No comment RAB3A 100.00 0 No comment RAB3GAP1 100.00 0 No comment RARS2 100.00 0 No comment RELN 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2C 100.00 0 No comment RNF170 100.00 0 No comment RNF216 100.00 0 No comment RPGRIP1L 96.40 0 No comment RRM2B 100.00 0 No comment SACS 99.95 0 No comment SAMD9L 100.00 0 No comment SAMHD1 100.00 0 No comment SAR1B 100.00 0 No comment SCN8A 100.00 0 No comment SEC16A 99.98 0 No comment SEPSECS 99.57 0 No comment SERAC1 100.00 0 No comment SETX 100.00 0 No comment SIL1 99.95 0 No comment SKOR1 98.57 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC39A8 98.92 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC9A1 100.00 0 No comment SLC9A6 99.66 0 No comment SMPD1 100.00 0 No comment SNX14 99.98 0 No comment SPAST 99.83 0 No comment SPG11 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN2 99.93 0 No comment SRD5A3 98.61 0 No comment STUB1 99.69 0 No comment SYNE1 100.00 0 No comment SYT14 92.28 0 No comment TANGO2 99.94 0 No comment TBC1D20 95.06 0 No comment TBCC 100.00 0 No comment TBP 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TDP1 100.00 0 No comment TDP2 100.00 0 No comment TGM6 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment TMEM240 96.75 0 No comment TMEM67 99.95 0 No comment ACD 99.99 0 No comment TRIM32 100.00 0 No comment TRPC3 99.48 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TSFM 100.00 0 No comment TTBK2 100.00 0 No comment TTC19 100.00 0 No comment TTC8 99.73 0 No comment TTPA 96.80 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TYMP 100.00 0 No comment UBA5 100.00 0 No comment VAMP1 100.00 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS13D 100.00 0 No comment VRK1 100.00 0 No comment VWA3B 100.00 0 No comment WDPCP 99.11 0 No comment WDR73 100.00 0 No comment WDR81 99.63 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XPA 98.10 0 No comment XPC 100.00 0 No comment XPR1 99.91 0 No comment XRCC1 99.95 0 No comment ZC4H2 100.00 0 No comment ZFYVE26 100.00 0 No comment ZNF423 100.00 0 No comment ZNF592 100.00 0 No comment -
Cerebral palsy (212 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACOX1 ADA2 ADCY5 ADD3 AFG3L2 AHI1 AIMP1 AKT3 ALDH3A2 ALDH5A1 AMT AP4B1 AP4E1 AP4M1 AP4S1 ARG1 ARSA ARX ASPA ATL1 ATM ATP7B AUTS2 BCKDHA BCKDHB BSCL2 BTD MTRFR CDKL5 CEP290 CLN3 COL4A1 COL4A2 COQ8A CYP2U1 CYP7B1 DARS1 DBT DDC DDHD1 DDHD2 DLD DYRK1A EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 ELP2 ERLIN2 F10 HYCC1 FH FOXC1 FOXG1 GAD1 GALC GALT GAMT GBA1 GCH1 GCSH GFAP GJC2 GLB1 GLDC GLRA1 GM2A GPHN GRID2 GRIN1 GRIN2B HESX1 HEXA HIKESHI HPRT1 HSPD1 IFIH1 ISG15 ITPR1 KANK1 KCNC3 KDM5C KIF1A KIF1C KIF5A L1CAM L2HGDH LAMA2 MARS2 MCPH1 MECP2 MOCS1 MOCS2 MTHFR MTOR MTPAP MTTP MMUT NIPA1 NKX2-1 NKX6-2 NOTCH3 NPC1 NPC2 NPHP1 PAFAH1B1 PAK3 PANK2 PCCA PCCB PDHA1 PDHX PHYH PIK3CA PLA2G6 PLAA PLP1 PMM2 PNP POLG POLR1C POLR3A POLR3B PPT1 PYCR2 QDPR RARS1 REEP1 RNASEH2A RNASEH2B RNASEH2C RNASET2 RTN2 SACS SAMHD1 SCN8A SEPSECS SHH SIX3 SLC16A2 SLC17A5 SLC19A3 SLC2A1 SLC5A6 SLC6A1 SLC6A5 SPAST SPG11 SPG7 SPR SPTBN2 SUOX SURF1 TECPR2 TGIF1 TH TPP1 TRAPPC12 TREX1 TSEN15 TSEN2 TSEN54 TTPA TUBA1A TUBA8 TUBB TUBB2A TUBB2B TUBB3 TUBB4A TUBG1 UBE3A USP18 VPS11 VPS37A VPS53 ZFYVE26 ZIC2 ACTA2 ALS2 AMPD2 ATAD3A CACNA1A CTNNB1 DGUOK EPHB4 FBXO31 FLVCR2 GNAO1 GNB1 JAM3 KCNQ2 KIDINS220 NT5C2 PCYT2 RASA1 SELENOI ST3GAL5 STAT2 STING1 STXBP1 TAF2 YY1AP1 ZBTB18 ZC4H2 -
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 -
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AMPD2 99.99 1 AP4B1 99.97 1 ATP13A2 99.98 1 CAMTA1 99.97 1 COA7 100.00 1 COQ8A 100.00 1 COX20 99.40 1 DARS2 99.86 1 EIF2B3 99.95 1 FLVCR1 99.93 1 GDAP2 99.96 1 GJC2 96.12 1 HPDL 100.00 1 IBA57 96.45 1 KCNA2 100.00 1 KCND3 100.00 1 MMACHC 99.99 1 MSTO1 98.87 1 PUM1 99.95 1 RNF220 99.95 1 SLC9A1 99.86 1 TMEM240 99.83 1 TOE1 99.99 1 VPS13D 99.85 1 ALDH18A1 99.96 1 CWF19L1 99.89 1 ENTPD1 99.90 1 ERLIN1 99.96 1 NKX6-2 96.38 1 NT5C2 99.89 1 PHYH 99.65 1 POLR3A 99.95 1 ATM 99.83 1 BSCL2 100.00 1 CAPN1 100.00 1 CLP1 100.00 1 FAR1 99.83 1 HIKESHI 99.89 1 MRE11 99.90 1 SCYL1 99.64 1 SPTBN2 99.99 1 TPP1 99.88 1 AAAS 99.98 1 B4GALNT1 99.95 1 EIF2B1 99.96 1 KCNA1 99.96 1 KIF5A 99.93 1 MTRFR 99.85 1 PRICKLE1 99.97 1 SCN8A 99.90 1 VAMP1 99.70 1 ATP7B 99.99 1 ATP8A2 99.96 1 EXOSC8 99.69 1 FGF14 99.79 1 KPNA3 99.96 1 SACS 99.98 1 SPART 99.99 1 AP4S1 87.70 1 ATL1 99.95 1 DDHD1 99.98 1 EIF2B2 99.84 1 GALC 99.88 1 GCH1 99.74 1 GLRX5 98.29 1 IRF2BPL 98.65 1 NPC2 99.99 1 TMEM63C 99.99 1 VRK1 99.94 1 ZFYVE26 99.96 1 AP4E1 99.89 1 CLN6 98.04 1 HEXA 99.98 1 NIPA1 96.26 1 POLG 99.98 1 SPG11 99.94 1 SPG21 99.99 1 TTBK2 99.88 1 WDR73 99.99 1 ARL6IP1 99.84 1 CHMP1A 100.00 1 FA2H 99.93 1 SPG7 99.99 1 STUB1 99.73 1 CACNA1G 99.89 1 COASY 99.98 1 GFAP 99.94 1 GOSR2 99.75 1 KIF1C 99.99 1 NPTX1 99.35 1 PCYT2 97.60 1 TSEN54 98.24 1 VPS53 99.98 1 WDR45B 99.96 1 WDR81 100.00 1 AFG3L2 99.82 1 NPC1 99.84 1 ATCAY 99.99 1 ATP1A3 99.99 1 C19ORF12 99.36 1 CACNA1A 99.66 1 CPT1C 99.99 1 DNMT1 99.88 1 EEF2 99.99 1 KCNC3 94.29 1 MAG 99.81 1 OPA3 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 PRKCG 99.90 1 RTN2 99.99 1 TUBB4A 98.81 1 ALS2 99.91 1 ATP5MC3 100.00 1 CYP27A1 99.96 1 DARS1 99.87 1 EIF2B4 99.94 1 HSPD1 99.95 1 KIDINS220 99.97 1 KIF1A 99.96 1 MARS2 100.00 1 PGAP1 99.64 1 REEP1 99.99 1 SELENOI 99.88 1 SLC1A4 99.95 1 SPAST 99.83 1 ABHD12 99.11 1 DNAJC5 99.99 1 PDYN 99.98 1 TGM6 100.00 1 ARSA 100.00 1 PLA2G6 99.98 1 ANO10 99.92 1 ATG7 99.98 1 BTD 99.99 1 CACNA2D2 99.32 1 CLCN2 99.97 1 CTNNB1 99.98 1 EIF2B5 99.95 1 ITPR1 99.94 1 OPA1 99.87 1 RUBCN 99.94 1 SLC33A1 99.82 1 TFG 99.34 1 TSEN2 86.92 1 AIMP1 99.90 1 CYP2U1 97.44 1 EXOSC9 99.86 1 GRID2 99.98 1 MTTP 99.96 1 RFC1 99.44 1 SEPSECS 99.84 1 UCHL1 99.99 1 CCT5 99.97 1 FAT2 99.94 1 HEXB 99.91 1 PCDH12 100.00 1 REEP2 100.00 1 SIL1 99.99 1 SLC1A3 99.90 1 SLC25A46 99.93 1 SQSTM1 100.00 1 THG1L 99.95 1 ABHD16A 100.00 1 ARG1 99.98 1 ELOVL4 99.92 1 ELOVL5 99.95 1 FARS2 99.98 1 GRM1 99.87 1 HACE1 99.91 1 PEX7 99.87 1 RARS2 97.34 1 SNX14 99.73 1 SYNE1 99.96 1 TDP2 99.85 1 AP4M1 100.00 1 AP5Z1 99.94 1 COG5 99.92 1 IFRD1 99.96 1 PMPCB 99.98 1 RNF216 99.99 1 SAMD9L 99.98 1 VPS41 99.95 1 CA8 99.97 1 CYP7B1 99.87 1 DDHD2 99.74 1 ERLIN2 99.94 1 GPAA1 99.88 1 RNF170 99.94 1 TTPA 99.97 1 WASHC5 99.90 1 APTX 99.92 1 AUH 99.95 1 EXOSC3 99.98 1 GBA2 99.97 1 INPP5E 99.75 1 PMPCA 99.99 1 SETX 99.96 1 SPTAN1 99.97 1 UBAP1 99.96 1 VLDLR 99.93 1 ABCB7 98.62 1 ABCD1 99.78 1 AIFM1 99.43 1 AP1S2 97.43 1 ATP2B3 99.82 1 CASK 99.40 1 L1CAM 99.90 1 PLP1 99.93 1 -
Intellectual disability & Epilepsy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 AASS 99.61 1 ABAT 99.98 1 ABCA2 100.00 1 ABCC8 99.98 1 ABCC9 99.92 1 ABCD1 99.98 1 ABCD4 100.00 1 ABHD16A 100.00 1 ABHD5 99.98 1 ACAD9 100.00 1 ACADM 96.14 1 ACADS 99.99 1 ACADSB 99.93 1 ACAT1 99.81 1 ACO2 99.99 1 ACOX1 99.98 1 ACSF3 99.99 1 ACSL4 99.59 1 ACTB 100.00 1 ACTG1 100.00 1 ACTL6A 99.74 1 ACTL6B 99.90 1 ACVR1 99.94 1 ACY1 100.00 1 ADAM22 99.15 1 ADAR 99.84 1 ADARB1 94.29 1 ADAT3 100.00 1 ADD3 99.95 1 ADGRG1 99.90 1 ADGRL1 99.98 1 ADGRL2 98.18 1 ADK 99.78 1 ADNP 100.00 1 ADPRS 99.94 1 ADSL 99.93 1 AFF2 99.89 1 AFF3 99.63 1 AFF4 99.94 1 AFG3L2 99.97 1 AGA 99.92 1 AGO1 99.73 1 AGO2 99.97 1 AGPAT2 100.00 1 AGTPBP1 99.68 1 AHCY 100.00 1 AHDC1 100.00 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 AIMP2 99.99 1 AK1 100.00 1 AKT3 99.81 1 ALDH18A1 99.96 1 ALDH3A2 99.95 1 ALDH4A1 98.97 1 ALDH5A1 96.19 1 ALDH7A1 99.49 1 ALG1 86.66 1 ALG11 99.99 1 ALG12 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 ALG3 99.96 1 ALG6 93.37 1 ALG8 95.49 1 ALG9 99.73 1 ALKBH8 99.98 1 ALMS1 99.90 1 ALPL 99.88 1 ALX1 97.99 1 ALX4 100.00 1 AMACR 100.00 1 AMER1 100.00 1 AMMECR1 99.87 1 AMPD2 99.91 1 AMT 100.00 1 ANK2 99.98 1 ANK3 99.79 1 ANKLE2 99.99 1 ANKRD11 99.85 1 ANKRD17 99.92 1 ANO10 99.93 1 ANTXR1 99.83 1 AP1G1 99.95 1 AP1S1 99.49 1 AP1S2 99.56 1 AP2M1 99.69 1 AP3B1 99.89 1 AP3B2 100.00 1 AP3D1 100.00 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APC2 99.98 1 APTX 99.92 1 ARCN1 99.92 1 ARF1 99.99 1 ARFGEF1 99.86 1 ARFGEF2 99.99 1 ARG1 99.95 1 ARHGAP31 100.00 1 ARHGEF9 99.89 1 ARID1A 99.83 1 ARID1B 99.69 1 ARID2 99.48 1 ARL13B 99.53 1 ARL6 99.90 1 ARMC9 99.77 1 ARSA 99.99 1 ARSL 99.93 1 ARV1 99.85 1 ARX 95.36 1 ASAH1 99.90 1 ASH1L 99.79 1 ASL 99.98 1 ASNS 99.63 1 ASPA 99.98 1 ASPM 99.57 1 ASS1 77.52 1 ASXL1 100.00 1 ASXL2 99.82 1 ASXL3 99.99 1 ATAD1 99.85 1 ATAD3A 99.62 1 ATCAY 100.00 1 ATG7 99.90 1 ATIC 99.86 1 ATL1 99.95 1 ATM 99.83 1 ATN1 99.90 1 ATP13A2 99.96 1 ATP1A1 98.41 1 ATP1A2 99.85 1 ATP1A3 99.98 1 ATP2A2 99.98 1 ATP2B1 99.39 1 ATP6AP2 99.55 1 ATP6V0A1 99.85 1 ATP6V0A2 99.92 1 ATP6V1A 99.73 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 ATP8A2 100.00 1 ATP9A 99.99 1 ATPAF2 99.96 1 ATRX 99.44 1 ATXN2 99.88 1 AUH 99.95 1 AUTS2 99.87 1 AVPR2 100.00 1 B3GALNT2 92.79 1 B3GALT6 100.00 1 B3GLCT 99.90 1 B4GALNT1 99.97 1 B4GALT1 99.97 1 B4GALT7 99.99 1 B4GAT1 100.00 1 B9D1 99.80 1 B9D2 99.88 1 BAZ2B 99.63 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BCAP31 99.95 1 BCAS3 99.31 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCKDK 99.99 1 BCL11A 99.93 1 BCL11B 100.00 1 BCOR 99.97 1 BCORL1 99.99 1 BCS1L 99.99 1 BICD2 99.99 1 BICRA 99.99 1 BLM 99.80 1 BLOC1S1 99.95 1 BMP4 100.00 1 BOLA3 99.22 1 BPTF 99.84 1 BRAF 99.78 1 BRAT1 100.00 1 BRD4 99.98 1 BRF1 100.00 1 BRPF1 100.00 1 BRSK2 99.98 1 BRWD3 99.40 1 BSCL2 99.99 1 BTD 100.00 1 BUB1B 100.00 1 C12ORF4 99.93 1 C12ORF57 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CA5A 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1B 100.00 1 CACNA1C 100.00 1 CACNA1D 99.98 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNA1H 100.00 1 CACNA1I 99.98 1 CACNA2D1 97.12 1 CACNA2D2 99.99 1 CACNB4 99.20 1 CACNG2 99.99 1 CAD 99.86 1 CAMK2A 99.99 1 CAMK2B 99.92 1 CAMK2G 99.95 1 CAMK4 99.78 1 CAMTA1 99.97 1 CAPN10 99.99 1 CAPN15 99.98 1 CARS1 99.99 1 CARS2 99.99 1 CASK 98.95 1 CBL 99.95 1 CBS 17.79 1 CC2D1A 99.98 1 CC2D2A 99.95 1 CCBE1 99.52 1 CCDC115 99.90 1 CCDC174 99.98 1 CCDC22 99.91 1 CCDC47 99.97 1 CCDC88A 99.48 1 CCDC88C 100.00 1 CCM2 99.93 1 CCND2 100.00 1 CCNK 99.93 1 CDC42 98.05 1 CDC42BPB 99.99 1 CDH11 99.94 1 CDH15 99.98 1 CDH2 99.84 1 CDK10 99.98 1 CDK13 99.83 1 CDK19 99.26 1 CDK5RAP2 99.97 1 CDK6 99.47 1 CDK8 99.81 1 CDKL5 99.88 1 CDKN1C 100.00 1 CDON 99.99 1 CELF2 99.99 1 CELSR3 99.99 1 CENPF 99.97 1 CENPJ 99.92 1 CEP104 99.99 1 CEP120 99.90 1 CEP135 99.82 1 CEP152 99.93 1 CEP290 98.10 1 CEP41 99.99 1 CEP55 99.92 1 CEP57 99.92 1 CEP63 94.73 1 CEP83 98.68 1 CEP85L 100.00 1 CERS1 100.00 1 CERT1 99.66 1 CHAMP1 99.99 1 CHD1 99.46 1 CHD2 99.97 1 CHD3 99.06 1 CHD4 99.99 1 CHD5 99.97 1 CHD7 99.99 1 CHD8 99.96 1 CHKB 100.00 1 CHMP1A 100.00 1 CHRNA2 99.98 1 CHRNA4 100.00 1 CHRNB2 99.99 1 CIC 98.32 1 CILK1 99.69 1 CIT 99.99 1 CKAP2L 99.54 1 CLCN3 99.95 1 CLCN4 99.98 1 CLCNKB 99.98 1 CLDN11 100.00 1 CLDN16 99.98 1 CLDN19 99.02 1 CLIC2 99.82 1 CLN3 99.92 1 CLN5 100.00 1 CLN6 100.00 1 CLN8 100.00 1 CLP1 99.98 1 CLPB 99.97 1 CLTC 99.56 1 CNKSR2 99.54 1 CNNM2 99.94 1 CNOT1 99.83 1 CNOT2 99.00 1 CNOT3 99.99 1 CNPY3 99.98 1 CNTN2 99.95 1 CNTNAP1 99.98 1 CNTNAP2 99.99 1 COA8 99.94 1 COASY 99.98 1 COG1 100.00 1 COG4 99.96 1 COG5 99.92 1 COG6 99.86 1 COG7 99.74 1 COG8 100.00 1 COL18A1 99.99 1 COL4A1 99.99 1 COL4A2 99.98 1 COLEC11 100.00 1 COPB1 99.87 1 COPB2 99.83 1 COQ2 99.90 1 COQ4 100.00 1 COQ5 99.95 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX6B1 100.00 1 CYP2A6 99.99 1 CPE 99.93 1 CPLANE1 99.81 1 CPLX1 100.00 1 CYP21A2 99.91 1 CPSF3 99.93 1 CPT2 99.65 1 CRADD 99.90 1 CRB2 99.95 1 CRBN 99.97 1 CREBBP 99.97 1 CRH 100.00 1 CRLF1 99.99 1 CRPPA 99.98 1 CSDE1 97.17 1 CSNK1G1 99.95 1 CSNK2A1 99.96 1 CSNK2B 99.65 1 CSPP1 98.31 1 CSTB 100.00 1 CTBP1 99.98 1 CTC1 100.00 1 CTCF 99.87 1 CTDP1 99.97 1 CTNNA2 99.84 1 CTNNB1 99.95 1 CTNND1 99.92 1 CTNND2 99.97 1 CTSA 99.98 1 CTSD 100.00 1 CTSF 99.96 1 CTU2 99.91 1 CUBN 99.99 1 CUL3 99.76 1 CUL4B 99.67 1 CUX1 99.37 1 CUX2 99.96 1 CWC27 99.67 1 CWF19L1 99.91 1 CYB5R3 99.93 1 CYC1 99.86 1 CYFIP2 100.00 1 CYP27A1 100.00 1 CYP2U1 99.99 1 D2HGDH 100.00 1 DAG1 100.00 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DCAF17 99.84 1 DCC 99.96 1 DCHS1 100.00 1 DCPS 99.98 1 DCX 99.99 1 DDB1 99.96 1 DDC 99.67 1 DDHD2 99.97 1 DDX11 99.74 1 DDX23 99.94 1 DDX3X 99.01 1 DDX59 99.67 1 DDX6 99.88 1 DEAF1 99.90 1 DEGS1 99.99 1 DENND5A 99.99 1 DEPDC5 99.18 1 DHCR24 99.93 1 DHCR7 99.97 1 DHDDS 98.65 1 DHFR 98.89 1 DHPS 93.17 1 DHTKD1 99.95 1 DHX16 99.98 1 DHX30 99.96 1 DHX37 99.98 1 DIAPH1 99.95 1 DIS3L2 99.90 1 DKC1 99.59 1 DLAT 99.65 1 DLD 99.89 1 DLG3 99.96 1 DLG4 99.99 1 DLL1 99.99 1 DMD 99.76 1 DMPK 99.93 1 DMXL2 99.86 1 DNAJC12 99.72 1 DNAJC19 99.76 1 DNAJC5 99.99 1 DNM1 92.28 1 DNM1L 99.40 1 DNMT3A 100.00 1 DNMT3B 99.98 1 DOCK3 99.96 1 DOCK6 100.00 1 DOCK7 94.41 1 DOCK8 99.86 1 DOLK 100.00 1 DONSON 99.99 1 DPAGT1 100.00 1 DPF2 99.99 1 DPH1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPP6 99.99 1 DPYD 94.53 1 DPYS 99.99 1 DPYSL5 99.93 1 DSCAM 99.99 1 DYM 99.96 1 DYNC1H1 99.99 1 DYNC1I2 98.97 1 DYRK1A 99.98 1 EARS2 99.96 1 EBF3 99.99 1 GLB1 100.00 1 ECHS1 100.00 1 EDC3 99.97 1 EDEM3 98.38 1 EED 93.81 1 EEF1A2 100.00 1 EFNB2 99.92 1 EFTUD2 99.93 1 EHMT1 98.38 1 EIF2AK2 99.70 1 EIF2AK3 97.43 1 EIF2B1 99.98 1 EIF2B2 99.90 1 EIF2B3 97.26 1 EIF2B4 99.96 1 EIF2B5 99.98 1 EIF2S3 99.34 1 EIF3F 99.96 1 EIF4A3 99.99 1 EIF5A 100.00 1 ELAC2 99.90 1 ELOVL4 99.91 1 ELP2 99.82 1 EMC1 99.85 1 EMC10 99.96 1 EML1 99.99 1 EMX2 100.00 1 ENTPD1 99.98 1 EP300 99.97 1 EPB41L1 100.00 1 EPG5 99.95 1 EPHA7 99.97 1 EPM2A 99.99 1 EPRS1 99.53 1 ERBB4 99.92 1 ERCC1 99.96 1 ERCC2 99.99 1 ERCC3 99.90 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC6L2 99.94 1 ERCC8 99.79 1 ERLIN2 99.94 1 ESCO2 99.92 1 ETFA 99.95 1 ETFB 100.00 1 ETFDH 99.82 1 ETHE1 84.97 1 EXOC2 99.97 1 EXOC7 100.00 1 EXOSC2 100.00 1 EXOSC3 100.00 1 EXOSC8 99.91 1 EXOSC9 94.91 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FA2H 99.98 1 FAM111A 100.00 1 HYCC1 99.81 1 FAM149B1 99.69 1 FAM20C 100.00 1 FAM50A 99.99 1 FANCD2 99.86 1 FAR1 99.82 1 FARS2 100.00 1 FARSA 100.00 1 FARSB 99.64 1 FAT4 99.98 1 FBRSL1 95.66 1 FBXL3 99.48 1 FBXL4 100.00 1 FBXO11 99.53 1 FBXO28 99.67 1 FBXO31 99.99 1 FBXW11 99.96 1 FBXW7 99.90 1 FDFT1 99.99 1 FGD1 99.96 1 FGF12 99.94 1 FGF13 99.76 1 FGF14 99.99 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FH 99.95 1 FIBP 99.83 1 FIG4 99.83 1 FKRP 100.00 1 FKTN 99.94 1 FLNA 99.99 1 FLVCR1 99.91 1 FLVCR2 100.00 1 FMN2 99.99 1 FMR1 99.56 1 FOLR1 100.00 1 FOXG1 99.91 1 FOXP1 99.98 1 FOXP2 99.98 1 FOXRED1 100.00 1 FRAS1 99.97 1 FREM2 99.97 1 FRMD4A 100.00 1 FRMPD4 99.92 1 FRRS1L 99.91 1 FTCD 99.99 1 FTO 99.66 1 FTSJ1 99.95 1 FUCA1 98.72 1 FUT8 99.98 1 FXYD2 100.00 1 FZR1 99.99 1 GABBR2 99.96 1 GABRA1 100.00 1 GABRA2 99.90 1 GABRA3 99.96 1 GABRA5 99.96 1 GABRB1 99.97 1 GABRB2 99.92 1 GABRB3 99.66 1 GABRD 99.99 1 GABRG2 91.88 1 GAD1 99.92 1 GAL 99.90 1 GALC 99.92 1 GALE 99.90 1 GALNT2 99.44 1 GALT 100.00 1 GAMT 100.00 1 GATAD2B 99.44 1 GATM 99.92 1 GBA1 96.92 1 GCDH 100.00 1 GCH1 99.94 1 GCK 99.99 1 GCSH 98.75 1 GDI1 99.99 1 GEMIN4 100.00 1 GEMIN5 99.96 1 GFAP 99.99 1 GFER 100.00 1 GFM1 99.95 1 GFM2 99.87 1 GJA1 100.00 1 GJB1 100.00 1 GJC2 100.00 1 GK 99.27 1 GLDC 99.99 1 GLI2 99.93 1 GLI3 100.00 1 GLIS3 99.99 1 GLRA1 100.00 1 GLRB 99.79 1 GLS 99.78 1 GLUD1 99.80 1 GLUL 99.88 1 GLYCTK 100.00 1 GM2A 100.00 1 GMNN 99.73 1 GMPPA 99.97 1 GMPPB 100.00 1 GNAI1 99.70 1 GNAO1 99.86 1 GNAQ 99.94 1 GNAS 100.00 1 GNB1 100.00 1 GNB2 99.99 1 GNB5 99.98 1 GNPAT 99.78 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GOSR2 98.92 1 GOT2 99.78 1 GPAA1 100.00 1 GPC3 99.60 1 GPC4 99.89 1 GPHN 99.94 1 GPT2 99.97 1 GRIA2 99.99 1 GRIA3 99.93 1 GRIA4 99.93 1 GRID2 99.97 1 GRIK2 99.90 1 GRIN1 100.00 1 GRIN2A 100.00 1 GRIN2B 99.99 1 GRIN2D 99.97 1 GRIP1 99.83 1 GRM1 100.00 1 GRM7 99.99 1 GRN 100.00 1 GSS 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 GTPBP2 99.98 1 GTPBP3 99.99 1 GUSB 95.07 1 H1-4 100.00 1 H3-3A 35.67 1 H3-3B 100.00 1 H4C11 99.08 1 H4C3 99.99 1 H4C5 100.00 1 H4C9 100.00 1 HACE1 99.76 1 HADH 99.86 1 HADHA 99.98 1 HAX1 100.00 1 HCCS 99.90 1 HCFC1 99.99 1 HCN1 99.99 1 HCN2 97.35 1 HDAC4 99.98 1 HDAC6 99.96 1 HDAC8 99.74 1 HECW2 99.91 1 HEPACAM 100.00 1 HERC1 99.92 1 HERC2 95.66 1 HESX1 99.77 1 HEXA 99.99 1 HEXB 99.91 1 HGSNAT 99.93 1 HIBCH 99.70 1 HID1 99.99 1 HIVEP2 99.99 1 HK1 99.97 1 HLCS 99.97 1 HMGB1 54.18 1 HMGCL 99.31 1 HNMT 99.53 1 HNRNPH1 99.98 1 HNRNPH2 99.96 1 HNRNPK 99.93 1 HNRNPR 98.05 1 HNRNPU 99.95 1 HOXA1 100.00 1 HPD 99.99 1 HPDL 99.99 1 HPRT1 97.80 1 HRAS 100.00 1 HS2ST1 95.79 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPA9 99.96 1 HSPD1 83.42 1 HTRA2 99.99 1 HUWE1 99.88 1 IARS1 99.89 1 IARS2 99.77 1 IBA57 100.00 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IER3IP1 99.92 1 IFIH1 99.84 1 IFT172 99.98 1 IFT27 100.00 1 IGF1 100.00 1 IGF1R 100.00 1 IKBKG 57.34 1 IL1RAPL1 99.77 1 IMPA1 99.95 1 IMPDH2 100.00 1 INPP5E 99.85 1 INPP5K 99.94 1 INTS1 100.00 1 INTS8 99.89 1 IQSEC1 99.99 1 IQSEC2 99.97 1 IREB2 99.90 1 IRF2BPL 99.21 1 IRX5 100.00 1 ISCA2 100.00 1 ITGA7 99.87 1 ITPA 99.99 1 ITPR1 99.98 1 IVD 100.00 1 JAG1 100.00 1 JAM2 91.82 1 JAM3 100.00 1 JARID2 99.97 1 KANK1 99.99 1 KANSL1 99.85 1 KARS1 99.98 1 KAT5 100.00 1 KAT6A 99.93 1 KAT6B 99.79 1 KAT8 99.98 1 KATNAL2 99.98 1 KATNB1 99.99 1 KATNIP 99.13 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNB1 100.00 1 KCNC1 100.00 1 KCNC2 99.88 1 KCNC3 99.98 1 KCND2 99.90 1 KCND3 99.98 1 KCNH1 99.92 1 KCNJ10 99.98 1 KCNJ11 100.00 1 KCNJ6 100.00 1 KCNK4 99.99 1 KCNK9 100.00 1 KCNMA1 99.89 1 KCNN2 91.25 1 KCNN3 99.97 1 KCNQ2 100.00 1 KCNQ3 99.98 1 KCNQ5 99.89 1 KCNT1 99.98 1 KCNT2 98.77 1 KCTD3 99.75 1 KCTD7 99.98 1 KDM1A 89.42 1 KDM3B 99.98 1 KDM4B 99.99 1 KDM5B 97.15 1 KDM5C 99.98 1 KDM6A 99.74 1 KDM6B 99.99 1 KIAA0586 95.75 1 BLTP1 99.79 1 KIDINS220 99.94 1 KIF11 99.84 1 KIF14 97.80 1 KIF1A 99.96 1 KIF21B 99.83 1 KIF2A 99.79 1 KIF4A 99.76 1 KIF5A 99.91 1 KIF5C 99.93 1 KIF7 100.00 1 KIFBP 99.91 1 KLF7 99.99 1 KLHL15 100.00 1 KLHL7 99.95 1 KMT2A 99.97 1 KMT2B 99.99 1 KMT2C 98.98 1 KMT2D 99.98 1 KMT2E 99.92 1 KMT5B 99.91 1 KNL1 98.43 1 KPTN 99.98 1 KRAS 99.13 1 KRIT1 99.33 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMA2 99.95 1 LAMB1 99.87 1 LAMC3 99.97 1 LAMP2 98.95 1 LARGE1 100.00 1 LARP7 99.63 1 LARS1 99.87 1 LAS1L 99.97 1 LGI1 99.99 1 LGI4 99.98 1 LIAS 99.98 1 LIG4 100.00 1 LINGO1 100.00 1 LINS1 99.96 1 LIPT1 99.89 1 LMAN2L 99.91 1 LMBRD2 99.66 1 LMNB1 99.73 1 LMNB2 99.99 1 LONP1 99.99 1 LRP2 99.86 1 LRPPRC 99.80 1 LSS 99.98 1 LYRM7 99.98 1 LYST 99.87 1 LZTFL1 100.00 1 LZTR1 99.46 1 MAB21L1 100.00 1 MAB21L2 100.00 1 MACF1 99.33 1 MAF 99.73 1 MAGEL2 99.99 1 MAGT1 99.54 1 MAN1B1 99.94 1 MAN2B1 99.99 1 MANBA 99.81 1 MAOA 99.83 1 MAP1B 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.84 1 MAPK8IP3 100.00 1 MAPKAPK5 99.95 1 MAPRE2 99.96 1 MASP1 99.99 1 MAST1 100.00 1 MAT1A 99.70 1 MBD5 99.79 1 MBOAT7 100.00 1 MBTPS2 99.81 1 MCCC1 99.86 1 MCCC2 99.97 1 MCM3AP 99.98 1 MCOLN1 100.00 1 MCPH1 100.00 1 MDH2 99.54 1 MECP2 99.95 1 MECR 99.63 1 MED12 99.94 1 MED12L 99.95 1 MED13 99.55 1 MED13L 99.99 1 MED17 99.82 1 MED23 99.82 1 MED25 99.95 1 MED27 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MEIS2 99.97 1 METTL23 100.00 1 METTL5 99.75 1 MFF 99.97 1 MFSD2A 99.78 1 MFSD8 99.70 1 MGAT2 100.00 1 MGP 99.95 1 MICAL1 99.99 1 MICU1 99.56 1 MID1 99.90 1 MINPP1 99.73 1 MKKS 100.00 1 MKS1 99.92 1 MLC1 99.99 1 MLYCD 99.95 1 MMAA 99.95 1 MMAB 99.99 1 MMACHC 99.98 1 MMADHC 99.76 1 MMUT 99.68 1 MN1 99.98 1 MOCS1 99.95 1 MOCS2 99.96 1 MOGS 100.00 1 MORC2 100.00 1 MPDU1 99.97 1 MPDZ 99.86 1 MPLKIP 99.99 1 MRAS 99.97 1 MRPL3 99.94 1 MRPS22 99.87 1 MRPS34 100.00 1 MSL3 99.83 1 MSMO1 99.88 1 MTFMT 99.98 1 MTHFR 99.97 1 MTHFS 100.00 1 MTO1 90.25 1 MTOR 99.98 1 MTR 99.95 1 MTRFR 99.87 1 MTRR 99.98 1 MVK 99.97 1 MYCN 100.00 1 MYO5A 99.94 1 MYT1L 99.99 1 NAA10 99.99 1 NAA15 99.71 1 NAA20 99.93 1 NACC1 99.99 1 NAGA 100.00 1 NAGLU 100.00 1 NAGS 99.99 1 NALCN 99.97 1 NANS 100.00 1 NAPB 100.00 1 NARS1 99.94 1 NARS2 99.59 1 NAXD 99.99 1 NAXE 99.99 1 NBEA 99.98 1 NBN 99.93 1 NCAPG2 99.97 1 NCDN 99.99 1 NCKAP1 99.62 1 NCOR1 99.88 1 NDE1 100.00 1 NDP 99.98 1 NDST1 100.00 1 NDUFA1 99.93 1 NDUFA10 99.98 1 NDUFA11 98.22 1 NDUFA12 99.21 1 NDUFA2 99.95 1 NDUFA6 99.96 1 NDUFA8 100.00 1 NDUFAF1 100.00 1 NDUFAF2 99.88 1 NDUFAF3 100.00 1 NDUFAF4 99.95 1 NDUFAF5 99.89 1 NDUFAF8 99.98 1 NDUFB3 99.60 1 NDUFB9 100.00 1 NDUFS1 99.79 1 NDUFS2 99.66 1 NDUFS3 100.00 1 NDUFS4 99.99 1 NDUFS6 100.00 1 NDUFS7 99.99 1 NDUFS8 100.00 1 NDUFV1 99.99 1 NDUFV2 99.98 1 NECAP1 100.00 1 NECTIN1 99.99 1 NEDD4L 99.97 1 NEMF 99.94 1 NEU1 99.98 1 NEUROD2 100.00 1 NEXMIF 99.99 1 NF1 99.88 1 NFASC 99.94 1 NFE2L2 99.97 1 NFIA 97.55 1 NFIB 99.90 1 NFIX 99.99 1 NFU1 99.48 1 NGLY1 99.93 1 NHLRC1 100.00 1 NHS 99.96 1 NIPBL 99.34 1 NKAP 99.10 1 NKX2-1 100.00 1 NLGN3 99.98 1 NLGN4X 99.98 1 NLRP3 100.00 1 NONO 99.94 1 NOVA2 99.95 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.05 1 NPRL2 100.00 1 NPRL3 99.99 1 NR2F1 99.99 1 NR4A2 99.97 1 NRAS 99.66 1 NRROS 100.00 1 NRXN1 99.98 1 NSD1 99.98 1 NSD2 99.87 1 NSDHL 99.87 1 NSUN2 99.96 1 NT5C2 99.96 1 NTNG2 99.98 1 NTRK1 99.86 1 NTRK2 99.90 1 NUBPL 99.62 1 NUDT2 100.00 1 NUP107 97.46 1 NUP188 99.88 1 NUP214 99.98 1 NUP62 100.00 1 NUS1 99.90 1 OAT 90.17 1 OCLN 82.91 1 OCRL 99.89 1 ODC1 99.99 1 OFD1 99.68 1 OGT 99.79 1 OPHN1 99.92 1 SLC25A15 100.00 1 OSGEP 100.00 1 OTC 99.42 1 OTUD5 99.93 1 OTUD6B 99.92 1 OTX2 100.00 1 OXR1 99.96 1 P4HTM 100.00 1 PABPC1 99.84 1 PACS1 99.96 1 PACS2 99.99 1 PAFAH1B1 99.96 1 PAH 99.96 1 PAK1 99.99 1 PAK3 92.53 1 PANK2 99.99 1 PARN 99.75 1 PARP6 99.97 1 PARS2 99.99 1 PAX1 100.00 1 PAX6 99.95 1 PAX8 99.99 1 PBX1 99.88 1 PODXL 99.99 1 PCCA 99.90 1 PCCB 99.97 1 PCDH12 100.00 1 PCDH19 99.98 1 PCDHGC4 100.00 1 PCGF2 99.78 1 PCLO 99.41 1 PCNT 99.97 1 PCYT2 100.00 1 PDCD10 99.94 1 PDE2A 99.95 1 PDE4D 99.89 1 PDE6D 99.94 1 PDGFRB 99.99 1 PDHA1 99.04 1 PDHB 99.94 1 PDHX 100.00 1 PDP1 100.00 1 PDSS1 95.70 1 PDSS2 99.87 1 PEPD 99.98 1 PET100 99.98 1 PEX1 98.80 1 PEX10 100.00 1 PEX11B 99.62 1 PEX12 100.00 1 PEX13 99.36 1 PEX14 100.00 1 PEX16 99.94 1 PEX19 99.25 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.85 1 PEX5 99.89 1 PEX6 99.99 1 PEX7 99.72 1 PGAP1 99.56 1 PGAP2 99.99 1 PGAP3 99.97 1 PGK1 99.93 1 PGM2L1 99.82 1 PGM3 99.94 1 PHACTR1 100.00 1 PHF21A 99.91 1 PHF6 99.16 1 PHF8 99.87 1 PHGDH 99.79 1 PHIP 99.63 1 PI4KA 99.76 1 PIBF1 99.90 1 PIDD1 100.00 1 PIGA 99.81 1 PIGB 99.92 1 PIGC 100.00 1 PIGF 98.59 1 PIGG 99.99 1 PIGH 100.00 1 PIGK 92.56 1 PIGL 99.98 1 PIGN 99.91 1 PIGO 99.99 1 PIGP 99.87 1 PIGQ 99.99 1 PIGS 100.00 1 PIGT 99.95 1 PIGU 99.98 1 PIGV 100.00 1 PIGW 99.87 1 PIGY 99.99 1 PIK3C2B 99.79 1 PIK3CA 99.74 1 PIK3R2 99.95 1 PISD 100.00 1 PITRM1 99.89 1 PLA2G6 99.98 1 PLAA 99.79 1 PLCB1 99.98 1 PLCH1 99.99 1 PLK4 99.89 1 PLP1 99.98 1 PLPBP 99.99 1 PLXNA1 100.00 1 PLXND1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNP 100.00 1 PNPLA6 99.99 1 PNPO 99.90 1 PNPT1 99.56 1 POC1A 99.98 1 POC1B 100.00 1 POGZ 99.49 1 POLA1 99.57 1 POLG 100.00 1 POLR1C 100.00 1 POLR2A 99.95 1 POLR3A 99.97 1 POLR3B 99.94 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 PORCN 99.93 1 POU1F1 99.98 1 POU3F3 99.96 1 PPFIBP1 99.11 1 PPIL1 100.00 1 PPM1D 99.81 1 PPP1CB 99.89 1 PPP1R12A 99.08 1 PPP1R15B 99.92 1 PPP1R21 99.92 1 PPP2CA 99.99 1 PPP2R1A 100.00 1 PPP2R5D 99.99 1 PPP3CA 99.84 1 PPT1 97.48 1 PQBP1 99.99 1 PRDM13 99.99 1 PRDM15 99.99 1 PRF1 100.00 1 PRICKLE1 99.87 1 PRICKLE2 99.98 1 PRIMA1 99.98 1 PRKACB 87.33 1 PRKAR1A 100.00 1 PRKAR1B 100.00 1 PRMT7 99.95 1 PRODH 4.29 1 PRPS1 99.95 1 PRR12 100.00 1 PRRT2 99.97 1 PRSS12 99.98 1 PRUNE1 99.85 1 PSAP 99.94 1 PSAT1 99.98 1 PSMD12 99.95 1 PSPH 99.09 1 PTCH1 99.99 1 PTCHD1 99.97 1 PTDSS1 99.95 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN23 100.00 1 PTPN4 98.20 1 PTRH2 99.99 1 PTRHD1 100.00 1 PTS 99.93 1 PUF60 100.00 1 PUM1 98.14 1 PURA 100.00 1 PUS1 100.00 1 PUS3 100.00 1 PUS7 99.89 1 PYCR1 99.99 1 PYCR2 99.95 1 QARS1 100.00 1 QDPR 99.92 1 QRICH1 100.00 1 RAB11B 100.00 1 RAB18 99.76 1 RAB23 99.97 1 RAB27A 99.94 1 RAB39B 99.99 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 RABGAP1 99.99 1 RAC1 99.75 1 NCOA3 100.00 1 RAD21 99.91 1 RAF1 99.97 1 RAI1 98.56 1 RALA 99.69 1 RALGAPA1 99.73 1 RARB 99.99 1 RARS2 99.88 1 RBBP8 99.91 1 RBFOX1 99.95 1 RBM10 99.98 1 RBM28 99.99 1 RBPJ 99.96 1 RCBTB1 99.99 1 RELN 99.98 1 RERE 99.94 1 RFT1 99.79 1 RFX3 99.95 1 RFX4 99.95 1 RFX7 99.99 1 RHEB 99.97 1 RHOBTB2 100.00 1 RIMS2 99.97 1 RIT1 99.78 1 RLIM 99.93 1 RMND1 99.92 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNASET2 99.99 1 RNF113A 99.99 1 RNF125 99.98 1 RNF13 99.81 1 RNF220 99.68 1 RNPC3 88.90 1 RNU4ATAC 99.95 1 RNU7-1 33.90 1 ROGDI 99.98 1 RORA 99.97 1 RORB 99.86 1 RPGRIP1L 96.35 1 RPIA 99.84 1 RPL15 84.91 1 RPS19 100.00 1 RPS6KA3 98.93 1 RRAS2 99.94 1 RRM2B 99.97 1 RSPRY1 99.73 1 RSRC1 99.95 1 RTEL1 100.00 1 RTN4IP1 99.98 1 RTTN 99.93 1 RUBCN 100.00 1 RUSC2 99.99 1 RXYLT1 99.48 1 SALL1 100.00 1 SAMD9 99.93 1 SAMHD1 99.98 1 SARS1 98.53 1 SATB1 100.00 1 SATB2 99.96 1 SBDS 99.93 1 SBF1 99.99 1 SC5D 99.97 1 SCAF4 99.91 1 SCAMP5 99.99 1 SCAPER 99.75 1 SCARB2 99.99 1 SCN1A 99.94 1 SCN1B 99.98 1 SCN2A 99.86 1 SCN3A 99.76 1 SCN8A 99.77 1 SCO1 99.98 1 SCO2 100.00 1 SCYL1 100.00 1 SDCCAG8 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SEMA3E 99.13 1 SEMA6B 99.98 1 SEPSECS 99.78 1 SERAC1 99.90 1 SERPINI1 99.98 1 SET 78.28 1 SETBP1 100.00 1 SETD1A 99.99 1 SETD1B 99.99 1 SETD2 99.91 1 SETD5 99.99 1 SFXN4 99.97 1 SGPL1 99.95 1 SGSH 100.00 1 SHANK1 99.99 1 SHANK2 99.97 1 SHANK3 98.45 1 SHH 100.00 1 SHMT2 99.92 1 SHOC2 99.96 1 SHROOM4 99.78 1 SIAH1 100.00 1 SIK1 3.83 1 SIL1 99.95 1 SIN3A 99.97 1 SIN3B 99.98 1 SIX3 100.00 1 HHAT 99.98 1 SLC12A2 99.55 1 SLC12A5 99.99 1 SLC12A6 99.98 1 SLC13A5 99.99 1 SLC16A1 99.26 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A1 99.98 1 SLC1A2 99.95 1 SLC1A4 99.97 1 SLC25A1 99.93 1 SLC25A12 99.72 1 SLC25A19 99.99 1 SLC25A20 100.00 1 SLC25A22 100.00 1 SLC25A42 99.99 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC35A1 99.81 1 SLC35A2 99.97 1 SLC35A3 94.67 1 SLC35C1 100.00 1 SLC39A14 92.87 1 SLC39A8 99.95 1 SLC46A1 100.00 1 SLC4A4 99.97 1 SLC5A6 100.00 1 SLC6A1 99.96 1 SLC6A17 99.79 1 SLC6A19 99.99 1 SLC6A3 99.96 1 SLC6A8 99.99 1 SLC6A9 99.93 1 SLC7A7 99.99 1 SLC9A6 99.42 1 SLC9A7 99.91 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCA2 99.95 1 SMARCA4 99.99 1 SMARCA5 99.81 1 SMARCB1 99.99 1 SMARCC2 99.73 1 SMARCD1 99.81 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG8 99.92 1 SMG9 99.99 1 SMOC1 100.00 1 SMPD1 100.00 1 SMPD4 99.90 1 SNAP25 99.89 1 SNAP29 99.85 1 SNIP1 99.96 1 SNORD118 100.00 1 SNRPN 99.97 1 SNX14 99.73 1 SNX27 99.59 1 SOBP 99.99 1 SON 99.95 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX11 100.00 1 SOX2 100.00 1 SOX3 100.00 1 SOX4 99.36 1 SOX5 99.96 1 SOX6 99.89 1 SPART 99.98 1 SPAST 99.77 1 AFG2A 99.82 1 SPATA5L1 99.91 1 SPECC1L 99.98 1 SPEN 99.98 1 SPG11 99.89 1 SPOP 99.85 1 SPR 99.99 1 SPRED1 99.99 1 SPTAN1 99.96 1 SPTBN1 99.98 1 SPTBN2 99.98 1 SPTBN4 99.91 1 SRCAP 99.99 1 SRD5A3 99.94 1 SRPX2 99.95 1 SRRM2 99.98 1 SSR4 99.99 1 ST3GAL3 99.98 1 ST3GAL5 99.96 1 STAG1 99.88 1 STAG2 99.08 1 STAMBP 99.95 1 STEEP1 99.89 1 STIL 99.11 1 STRA6 99.95 1 STRADA 99.98 1 STT3A 99.99 1 STT3B 99.96 1 STX1B 99.97 1 STXBP1 99.99 1 SUCLA2 99.96 1 SUCLG1 99.64 1 SUFU 100.00 1 SUMF1 99.95 1 SUOX 100.00 1 SUPT16H 99.97 1 SURF1 100.00 1 SUZ12 98.58 1 SVBP 99.04 1 SYN1 99.98 1 SYNCRIP 99.93 1 SYNE1 99.95 1 SYNGAP1 99.96 1 SYNJ1 99.91 1 SYP 99.99 1 SYT1 99.70 1 SYT14 99.94 1 SZT2 99.88 1 TAF1 99.84 1 TAF13 95.71 1 TAF1C 100.00 1 TAF2 99.72 1 TAF6 99.96 1 TAFAZZIN 99.98 1 TANC2 99.85 1 TANGO2 99.85 1 TAOK1 99.77 1 TASP1 99.86 1 TAT 99.99 1 TBC1D20 100.00 1 TBC1D23 98.70 1 TBC1D24 100.00 1 TBC1D2B 99.94 1 TBC1D7 99.90 1 TBCD 100.00 1 TBCE 99.91 1 TBCK 99.75 1 TBL1XR1 99.92 1 TBP 99.98 1 TBR1 99.99 1 TBX1 99.95 1 TCF20 100.00 1 TCF4 98.56 1 TCF7L2 99.69 1 TCN2 100.00 1 TCTN1 99.92 1 TCTN2 99.99 1 TCTN3 99.92 1 TDP2 99.97 1 TECPR2 99.96 1 TECR 99.99 1 TELO2 99.99 1 TENM3 99.99 1 TET3 99.95 1 TFAP2A 100.00 1 TFE3 99.87 1 TGDS 99.86 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 TH 99.99 1 THOC2 99.11 1 THOC6 99.94 1 THRA 100.00 1 THRB 99.82 1 TIAM1 99.99 1 TIMM50 99.99 1 TIMM8A 100.00 1 TINF2 100.00 1 DDR2 97.39 1 TLK2 98.83 1 TMCO1 99.48 1 TMEM106B 99.92 1 TMEM107 100.00 1 TMEM138 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM222 99.93 1 TMEM231 88.88 1 TMEM237 99.30 1 TMEM240 99.99 1 TMEM63A 99.91 1 TMEM67 99.69 1 TMEM70 99.99 1 TMEM94 99.96 1 TMLHE 77.23 1 TMTC3 97.80 1 TMX2 99.99 1 TNIK 99.93 1 TNK2 99.98 1 TNPO2 99.99 1 TNR 99.80 1 TNRC6B 99.99 1 TOE1 99.96 1 TOGARAM1 99.93 1 TOR1A 100.00 1 TP53RK 81.09 1 TP73 100.00 1 TPI1 99.95 1 TPK1 99.96 1 THPO 100.00 1 ACD 99.99 1 TRAF7 99.97 1 TRAIP 99.97 1 TRAK1 99.98 1 TRAPPC10 84.42 1 TRAPPC11 99.93 1 TRAPPC12 99.96 1 TRAPPC2L 100.00 1 TRAPPC4 100.00 1 TRAPPC6B 99.74 1 TRAPPC9 99.98 1 TREX1 100.00 1 TRIM32 100.00 1 TRIM8 99.82 1 TRIO 99.98 1 TRIP12 99.62 1 TRIP4 99.97 1 TRIT1 99.25 1 TRMT1 100.00 1 TRMT10A 99.90 1 TRMT10C 99.55 1 TRNT1 99.97 1 TRPM3 99.89 1 TRPM6 99.93 1 TRRAP 99.79 1 TSC1 99.99 1 TSC2 99.98 1 TSEN15 99.57 1 TSEN2 99.98 1 TSEN34 100.00 1 TSEN54 100.00 1 TSFM 100.00 1 TSHB 99.95 1 TSPAN7 99.97 1 TTC19 99.99 1 TTC21B 99.50 1 SKIC3 99.82 1 TTC5 100.00 1 TTC8 99.67 1 TTI1 100.00 1 TTI2 99.94 1 TUBA1A 99.97 1 TUBB 100.00 1 TUBB2A 87.26 1 TUBB2B 87.69 1 TUBB3 100.00 1 TUBB4A 100.00 1 TUBG1 99.95 1 TUBGCP2 96.54 1 TUBGCP4 99.80 1 TUBGCP6 100.00 1 TUFM 100.00 1 TUSC3 99.96 1 TWIST1 100.00 1 TWNK 100.00 1 U2AF2 99.98 1 UBA5 99.95 1 UBE2A 99.77 1 UBE3A 99.23 1 UBE3B 99.99 1 UBE4A 99.99 1 UBR1 99.93 1 UBR7 99.96 1 UBTF 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UFSP2 99.74 1 UGDH 99.77 1 UGP2 99.85 1 UMPS 99.90 1 UNC80 98.04 1 UPB1 100.00 1 UPF3B 99.26 1 UQCRQ 99.96 1 UROC1 99.99 1 USP18 93.05 1 USP27X 99.99 1 USP7 99.90 1 USP9X 99.84 1 VAMP1 100.00 1 VAMP2 100.00 1 VARS1 99.99 1 VLDLR 99.99 1 VPS11 99.99 1 VPS13B 99.90 1 VPS16 100.00 1 VPS37A 99.96 1 VPS41 99.92 1 VPS4A 99.98 1 VPS53 100.00 1 VRK1 99.98 1 WAC 99.76 1 WARS2 97.72 1 WASF1 99.86 1 WASHC4 99.84 1 WASHC5 99.98 1 WDFY3 99.93 1 WDR19 99.80 1 WDR26 96.29 1 WDR37 99.94 1 WDR4 99.95 1 WDR45 99.99 1 WDR45B 100.00 1 WDR5 100.00 1 WDR62 99.96 1 WDR73 99.92 1 WDR81 100.00 1 WFS1 99.99 1 WNT1 99.97 1 WWOX 100.00 1 XK 99.98 1 XPA 99.68 1 XPNPEP3 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 YAP1 99.87 1 YIF1B 99.80 1 YIPF5 99.99 1 YME1L1 99.87 1 YWHAG 99.99 1 YY1 100.00 1 ZBTB11 99.97 1 ZBTB16 100.00 1 ZBTB18 99.41 1 ZBTB20 100.00 1 ZBTB24 99.99 1 ZC3H14 99.96 1 ZC4H2 99.98 1 ZDHHC9 99.61 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFHX4 99.99 1 ZFYVE26 100.00 1 ZIC1 99.99 1 ZIC2 100.00 1 ZMIZ1 99.92 1 ZMYM2 99.88 1 ZMYND11 99.99 1 ZNF142 100.00 1 ZNF148 99.85 1 ZNF292 99.91 1 ZNF335 100.00 1 ZNF407 99.98 1 ZNF423 98.94 1 ZNF462 99.99 1 ZNF526 100.00 1 ZNF699 100.00 1 ZNF711 99.43 1 ZSWIM6 98.94 1 -
Leukodystrophy - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 99.98 1 ABAT 99.98 1 ABCD1 99.98 1 ACBD5 99.97 1 ACER3 99.76 1 ACOX1 99.98 1 ACP5 100.00 1 ACTL6B 99.90 1 ADAR 99.84 1 ADGRG1 99.90 1 ADSL 99.93 1 AGA 99.92 1 AIFM1 99.92 1 AIMP1 99.97 1 AIMP2 99.99 1 ALDH3A2 99.95 1 ALDH5A1 96.19 1 APP 99.92 1 ARSA 99.99 1 ASAH1 99.90 1 ASPA 99.98 1 ATAD3A 99.62 1 ATP7A 99.87 1 ATP7B 100.00 1 AUH 99.95 1 B3GALNT2 92.79 1 BCAP31 99.95 1 BCS1L 99.99 1 BOLA3 99.22 1 BTD 100.00 1 CBS 17.79 1 CIC 98.32 1 CLCN2 100.00 1 CLN3 99.92 1 CLN5 100.00 1 CLN6 100.00 1 CLN8 100.00 1 CNP 99.98 1 CNTNAP1 99.98 1 COA8 99.94 1 COL4A1 99.99 1 COL4A2 99.98 1 COX10 99.99 1 COX15 100.00 1 CYP21A2 99.91 1 CSF1R 99.92 1 CTC1 100.00 1 CTSA 99.98 1 CTSD 100.00 1 CTSF 99.96 1 CYP27A1 100.00 1 DAG1 100.00 1 DARS1 98.85 1 DARS2 98.31 1 DCAF17 99.84 1 DDHD2 99.97 1 DEGS1 99.99 1 DGUOK 99.93 1 DLAT 99.65 1 DLD 99.89 1 DMXL2 99.86 1 DNAJC5 99.99 1 EARS2 99.96 1 ECHS1 100.00 1 EIF2AK1 99.90 1 EIF2AK2 99.70 1 EIF2B1 99.98 1 EIF2B2 99.90 1 EIF2B3 97.26 1 EIF2B4 99.96 1 EIF2B5 99.98 1 EPRS1 99.53 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC6 99.60 1 ERCC8 99.79 1 FA2H 99.98 1 HYCC1 99.81 1 FAR1 99.82 1 FARS2 100.00 1 FASTKD2 99.93 1 FBXL4 100.00 1 FDX2 99.99 1 CFH 99.97 1 FIG4 99.83 1 FKTN 99.94 1 FLVCR2 100.00 1 FOLR1 100.00 1 FUCA1 98.72 1 GALC 99.92 1 GALT 100.00 1 GAN 99.98 1 GBE1 99.73 1 GFAP 99.99 1 GFM1 99.95 1 GFM2 99.87 1 GJA1 100.00 1 GJB1 100.00 1 GJC2 100.00 1 GLA 99.90 1 GLB1 100.00 1 GM2A 100.00 1 GNAS 100.00 1 GPHN 99.94 1 GRN 100.00 1 GTF2H5 100.00 1 HEPACAM 100.00 1 HEXA 99.99 1 HEXB 99.91 1 HIKESHI 99.78 1 HLCS 99.97 1 HMGCL 99.31 1 HSD17B4 99.71 1 HSPD1 83.42 1 HTRA1 100.00 1 IBA57 100.00 1 IFIH1 99.84 1 IKBKG 57.34 1 ISCA2 100.00 1 IVD 100.00 1 JAM3 100.00 1 KARS1 99.98 1 L2HGDH 99.92 1 LAMA2 99.95 1 LARGE1 100.00 1 LARS2 99.96 1 LIPT1 99.89 1 LIPT2 99.99 1 LMNB1 99.73 1 LYRM7 99.98 1 MAN2B1 99.99 1 MANBA 99.81 1 MARS2 100.00 1 MCOLN1 100.00 1 MFSD8 99.70 1 MLC1 99.99 1 MMUT 99.68 1 MOCS1 99.95 1 MOCS2 99.96 1 MPLKIP 99.99 1 MPV17 99.98 1 MRPS34 100.00 1 MTFMT 99.98 1 MTHFR 99.97 1 MTO1 90.25 1 NAXD 99.99 1 NAXE 99.99 1 NDUFA2 99.95 1 NDUFA9 100.00 1 NDUFAF1 100.00 1 NDUFAF3 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS2 99.66 1 NDUFS4 99.99 1 NDUFS7 99.99 1 NDUFS8 100.00 1 NDUFV1 99.99 1 NEU1 99.98 1 NKX6-2 100.00 1 NOTCH3 99.99 1 NPC1 99.99 1 NPC2 100.00 1 NTNG2 99.98 1 NUBPL 99.62 1 OCLN 82.91 1 OCRL 99.89 1 PAH 99.96 1 PARS2 99.99 1 PCCA 99.90 1 PCCB 99.97 1 PDGFB 99.99 1 PDGFRB 99.99 1 PDHA1 99.04 1 PDHB 99.94 1 PDHX 99.64 1 PDP1 100.00 1 PEX1 98.80 1 PEX10 100.00 1 PEX11B 99.62 1 PEX12 100.00 1 PEX13 99.36 1 PEX14 100.00 1 PEX16 99.94 1 PEX19 99.25 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.85 1 PEX5 99.89 1 PEX6 99.99 1 PEX7 99.72 1 PLEKHG2 99.99 1 PLP1 99.98 1 PLPBP 99.99 1 PMPCB 99.94 1 PNPT1 99.56 1 POLG 100.00 1 POLR1C 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 POLR3K 100.00 1 POMGNT1 99.69 1 POMT1 99.96 1 POMT2 99.98 1 PPT1 97.48 1 PRF1 100.00 1 PSAP 99.94 1 PSAT1 99.98 1 PSPH 99.09 1 PYCR2 99.95 1 QDPR 99.92 1 RARS1 99.76 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNASET2 99.99 1 SAMHD1 99.98 1 SCP2 94.94 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHAF2 99.96 1 SDHB 97.32 1 SDHD 82.93 1 SEPSECS 99.78 1 SGO1 99.90 1 SHANK3 98.45 1 SLC13A3 99.98 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC20A2 99.95 1 SLC25A12 99.72 1 SLC44A1 99.90 1 SLC7A2 99.97 1 SNAP29 99.85 1 SNORD118 100.00 1 SOX10 100.00 1 SPG11 99.89 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 SUCLA2 99.96 1 SUMF1 99.95 1 SUOX 100.00 1 SURF1 100.00 1 TACO1 100.00 1 TMEM106B 99.92 1 TMEM63A 99.91 1 ACD 99.99 1 TREM2 100.00 1 TREX1 100.00 1 TSEN54 100.00 1 TTR 100.00 1 TUBB4A 100.00 1 TWNK 100.00 1 TYMP 99.87 1 TYROBP 99.95 1 UBTF 99.99 1 UFM1 99.25 1 UNC13D 100.00 1 VPS11 99.99 1 WARS2 97.72 1 WT1 99.99 1 XPR1 99.13 1 ZFYVE26 100.00 1