Belgian Genetic Tests database- Analytes
- IFIH1
IFIH1
| Name: |
interferon induced with helicase C domain 1
|
| Symbol: |
IFIH1
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
Hlcd
IDDM19
MDA-5
MDA5
helicard
melanoma differentiation-associated gene 5
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
- Ataxia Spasticity (gene panel)
- Cerebral palsy (gene panel)
- Congenital malformation (gene panel - 1721 genes)
- Congenital malformation gene panel
- Epilepsy (gene panel)
- Glaucoma (gene panel)
- Hereditary spastic paraplegia (gene panel - 249 genes)
- Intellectual disability & Epilepsy (gene panel)
- Intellectual disability (gene panel)
- Intellectual disability (virtual gene panel)
- Leukodystrophy (gene panel)
- Movement Disorders (gene panel)
- Movement Disorders (gene panel)
- Neuromuscular disorders (548 genes)
- Periodic Fever (88 genes)
- Primary immune deficiencies (gene panel)
- Primary immune deficiencies (gene panel)
- Skeletal dysplasia (gene panel)
- Skeletal dysplasia (gene panel)
-
Ataxia Spasticity - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 ABCA2 100.00 1 ABCB7 99.58 1 ABCD1 99.98 1 ABHD12 99.98 1 ACO2 99.99 1 ADAR 99.84 1 ADGRG1 99.90 1 ADPRS 99.94 1 AFG3L2 99.97 1 AGTPBP1 99.68 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 ALDH18A1 99.96 1 ALDH5A1 96.19 1 ALG6 93.37 1 ALS2 99.87 1 AMPD2 99.91 1 ANO10 99.93 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APOB 99.99 1 APTX 99.92 1 ARG1 99.95 1 ARL13B 99.53 1 ARL6IP1 99.51 1 ARSA 99.99 1 ARSI 100.00 1 ARX 95.36 1 ASPA 99.98 1 ATCAY 100.00 1 ATG5 99.81 1 ATL1 99.95 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP2B3 99.98 1 ATP7B 100.00 1 ATP8A2 100.00 1 AUH 99.95 1 B4GALNT1 99.97 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCL11B 100.00 1 BCS1L 99.99 1 BICD2 99.99 1 BSCL2 99.99 1 BTD 100.00 1 C19ORF12 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNB4 99.20 1 CAMTA1 99.97 1 CAPN1 99.99 1 CC2D2A 99.95 1 CCDC88C 100.00 1 CCT5 99.99 1 CDK16 99.99 1 CEP290 98.10 1 CHP1 99.90 1 CLCN2 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COQ2 99.90 1 COQ4 100.00 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX20 99.67 1 CP 99.95 1 CPT1C 99.99 1 CSTB 100.00 1 CTBP1 99.98 1 CWF19L1 99.91 1 CYP27A1 100.00 1 CYP2U1 99.99 1 CYP7B1 99.82 1 DAB1 97.87 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DDHD1 99.93 1 DDHD2 99.97 1 DDX3X 99.01 1 DEGS1 99.99 1 DLAT 99.65 1 DLD 99.89 1 DNAJC19 99.76 1 DNAJC3 99.92 1 DNAJC5 99.99 1 DNMT1 99.13 1 DOCK3 99.96 1 EARS2 99.96 1 EBF3 99.99 1 ECHS1 100.00 1 EEF2 99.95 1 EIF2AK1 99.90 1 ELOVL1 100.00 1 ELOVL4 99.91 1 ELOVL5 99.87 1 EMC1 99.85 1 ENTPD1 99.98 1 EPM2A 99.99 1 ERCC1 99.96 1 ERCC4 99.92 1 ERCC8 99.79 1 ERLIN1 99.98 1 ERLIN2 99.94 1 EXOSC3 100.00 1 FA2H 99.98 1 FARS2 100.00 1 FASTKD2 99.93 1 FAT2 99.99 1 FGF14 99.99 1 FITM2 99.99 1 FLRT1 100.00 1 FLVCR1 99.91 1 FOLR1 100.00 1 FRMD4A 100.00 1 FRMD7 99.97 1 GALC 99.92 1 GAN 99.98 1 GBA2 99.99 1 GBE1 99.73 1 GDAP2 95.02 1 GFAP 99.99 1 GFM2 99.87 1 GJC2 100.00 1 GLB1 100.00 1 GLRX5 100.00 1 GLS 99.78 1 GM2A 100.00 1 GOSR2 98.92 1 GPR143 99.60 1 GRID2 99.97 1 GRIN1 100.00 1 GRM1 100.00 1 GRN 100.00 1 GSX2 100.00 1 HACE1 99.76 1 HEXA 99.99 1 HEXB 99.91 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPD1 83.42 1 IBA57 100.00 1 IFIH1 99.84 1 IFRD1 99.67 1 IFT140 100.00 1 INTS8 99.89 1 IRF2BPL 99.21 1 ISCA1 99.79 1 ITM2B 99.85 1 ITPR1 99.98 1 JAM2 91.82 1 KANK1 99.99 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNC3 99.98 1 KCND3 99.98 1 KCNJ10 99.98 1 KCNJ6 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD7 99.98 1 KIDINS220 99.94 1 KIF1A 99.96 1 KIF1C 99.99 1 KIF5A 99.91 1 KLC2 100.00 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMB1 99.87 1 LIPT2 99.99 1 LYRM7 99.98 1 LYST 99.87 1 ERCC2 99.99 1 MAN2B1 99.99 1 MARS1 99.97 1 MARS2 100.00 1 MCOLN1 100.00 1 MECP2 99.95 1 MLC1 99.99 1 MMADHC 99.76 1 MME 97.17 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MSTO1 76.34 1 MTCL1 100.00 1 MTPAP 99.97 1 MTRFR 99.87 1 MTTP 99.92 1 MYORG 99.99 1 NANS 100.00 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NEFL 100.00 1 NEU1 99.98 1 NEXMIF 99.99 1 NF2 100.00 1 NHLRC1 100.00 1 NIPA1 99.91 1 NKX6-2 100.00 1 NOL3 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NT5C2 99.96 1 NTNG2 99.98 1 NUP93 99.87 1 NUS1 99.90 1 OCLN 82.91 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPHN1 99.92 1 OTC 99.42 1 PARS2 99.99 1 PODXL 99.99 1 PCDH12 100.00 1 PCYT2 100.00 1 PDHA1 99.04 1 PDHX 99.64 1 PDYN 100.00 1 PEX10 100.00 1 PEX16 99.94 1 PEX7 99.72 1 PGAP1 99.56 1 PHYH 100.00 1 PIK3R5 99.99 1 PLA2G6 99.98 1 PLAA 99.79 1 PLD3 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 PRF1 100.00 1 PRKCG 99.99 1 PRNP 100.00 1 PRPS1 99.95 1 PRRT2 99.97 1 PSAP 99.94 1 PSEN1 100.00 1 PTPN23 100.00 1 PTRH2 99.99 1 PUM1 98.14 1 RAB11B 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 REEP1 99.97 1 REEP2 99.99 1 RETREG1 99.99 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF170 99.90 1 RNF216 99.99 1 RORA 99.97 1 RPGRIP1L 96.35 1 RTN2 99.98 1 RTN4IP1 99.98 1 RUBCN 100.00 1 SACS 99.97 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SARS1 98.53 1 SCN8A 99.77 1 SCYL1 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SETX 99.97 1 SIL1 99.95 1 SLC13A5 99.99 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A3 99.98 1 SLC1A4 99.97 1 SLC25A15 100.00 1 SLC25A46 99.88 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC44A1 99.90 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC6A8 99.99 1 SLC9A1 99.96 1 SLC9A6 99.42 1 SMPD1 100.00 1 SNAP25 99.89 1 SNX14 99.73 1 SOX10 100.00 1 SPART 99.98 1 SPAST 99.77 1 SPG11 99.89 1 SPG21 99.97 1 SPG7 99.99 1 SPR 99.99 1 SPTAN1 99.96 1 SPTBN2 99.98 1 SQSTM1 100.00 1 SRD5A3 99.94 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SVBP 99.04 1 SYNE1 99.95 1 SYT14 99.94 1 TANGO2 99.85 1 TBC1D20 100.00 1 TDP1 99.97 1 TDP2 99.97 1 TECPR2 99.96 1 TENM3 99.99 1 TFG 98.68 1 TGM6 99.99 1 THG1L 99.99 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM240 99.99 1 TMEM67 99.69 1 TMX2 99.99 1 ACD 99.99 1 TRAK1 99.98 1 TRAPPC12 99.96 1 TRAPPC4 100.00 1 TRIT1 99.25 1 TRPC3 99.97 1 TSEN2 99.98 1 TSEN54 100.00 1 TTBK2 99.93 1 TTC19 99.99 1 TTPA 99.88 1 TUBA1A 99.97 1 TUBB4A 100.00 1 TUBG1 99.95 1 TWNK 100.00 1 UBA5 99.95 1 UBAP1 99.51 1 UBTF 99.99 1 UCHL1 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UGP2 99.85 1 USP8 99.67 1 VAMP1 100.00 1 VCP 99.99 1 VLDLR 99.99 1 VPS13B 99.90 1 VPS13D 99.96 1 VPS37A 99.96 1 VRK1 99.98 1 VWA3B 98.82 1 WARS2 97.72 1 WASHC5 99.98 1 WDR45B 100.00 1 WDR48 99.42 1 WDR73 99.92 1 WDR81 100.00 1 WWOX 100.00 1 XRCC1 99.96 1 ZC4H2 99.98 1 ZFR 99.94 1 ZFYVE26 100.00 1 ZFYVE27 99.99 1 -
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 -
Congenital malformation (1721 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 0.00 0 , AARS1 0.00 0 , AASS 0.00 0 , ABAT 0.00 0 , ABCA12 0.00 0 , ABCC6 0.00 0 , ABCC9 0.00 0 , ABCD1 0.00 0 , ABCD3 0.00 0 , ABCD4 0.00 0 , ABHD5 0.00 0 , ABL1 0.00 0 , ACAD9 0.00 0 , ACADVL 0.00 0 , ACAN 0.00 0 , ACE 0.00 0 , ACO2 0.00 0 , ACOX1 0.00 0 , ACP5 0.00 0 , ACSL4 0.00 0 , ACTA1 0.00 0 , ACTA2 0.00 0 , ACTB 0.00 0 , ACTC1 0.00 0 , ACTG1 0.00 0 , ACTG2 0.00 0 , ACVR1 0.00 0 , ACVR2B 0.00 0 , ACY1 0.00 0 , ADAMTS10 0.00 0 , ADAMTS17 0.00 0 , ADAMTS3 0.00 0 , ADAMTSL2 0.00 0 , ADAR 0.00 0 , ADGRG1 0.00 0 , ADGRG6 0.00 0 , ADNP 0.00 0 , ADSL 0.00 0 , AFF3 0.00 0 , AFF4 0.00 0 , AGK 0.00 0 , AGL 0.00 0 , AGPS 0.00 0 , AHCY 0.00 0 , AHDC1 0.00 0 , AHI1 0.00 0 , AIFM1 0.00 0 , AIMP1 0.00 0 , AIPL1 0.00 0 , AIRE 0.00 0 , AKR1C2 0.00 0 , AKT1 0.00 0 , AKT2 0.00 0 , AKT3 0.00 0 , ALDH18A1 0.00 0 , ALDH1A3 0.00 0 , ALDH3A2 0.00 0 , ALDH7A1 0.00 0 , ALDOA 0.00 0 , ALG1 0.00 0 , ALG11 0.00 0 , ALG12 0.00 0 , ALG13 0.00 0 , ALG2 0.00 0 , ALG3 0.00 0 , ALG6 0.00 0 , ALG8 0.00 0 , ALG9 0.00 0 , ALMS1 0.00 0 , ALOX12B 0.00 0 , ALOXE3 0.00 0 , ALPL 0.00 0 , ALX1 0.00 0 , ALX3 0.00 0 , ALX4 0.00 0 , AMACR 0.00 0 , AMBRA1 0.00 0 , AMER1 0.00 0 , AMMECR1 0.00 0 , AMPD2 0.00 0 , AMT 0.00 0 , ANAPC1 0.00 0 , ANKH 0.00 0 , ANKRD11 0.00 0 , ANKRD26 0.00 0 , ANKS6 0.00 0 , ANOS1 0.00 0 , ANTXR1 0.00 0 , ANTXR2 0.00 0 , AP1S2 0.00 0 , AP3B2 0.00 0 , AP4B1 0.00 0 , AP4E1 0.00 0 , AP4M1 0.00 0 , AP4S1 0.00 0 , AR 0.00 0 , ARCN1 0.00 0 , ARFGEF2 0.00 0 , ARHGAP29 0.00 0 , ARHGAP31 0.00 0 , ARID1A 0.00 0 , ARID1B 0.00 0 , ARID2 0.00 0 , ARL13B 0.00 0 , ARL3 0.00 0 , ARL6 0.00 0 , ODAD2 0.00 0 , ARMC9 0.00 0 , ARSA 0.00 0 , SLURP1 0.00 0 , ARSL 0.00 0 , ARVCF 0.00 0 , ARX 0.00 0 , ASAH1 0.00 0 , ASCC1 0.00 0 , ASNS 0.00 0 , ASPA 0.00 0 , ASPH 0.00 0 , ASPM 0.00 0 , ASS1 0.00 0 , ASXL1 0.00 0 , ASXL2 0.00 0 , ASXL3 0.00 0 , ATAD3A 0.00 0 , ATIC 0.00 0 , ATL1 0.00 0 , ATM 0.00 0 , ATP1A2 0.00 0 , ATP6V0A2 0.00 0 , ATP6V1B2 0.00 0 , ATP7A 0.00 0 , ATP8A2 0.00 0 , ATRX 0.00 0 , ATXN10 0.00 0 , AVIL 0.00 0 , B3GALNT2 0.00 0 , B3GALT6 0.00 0 , B3GAT3 0.00 0 , B3GLCT 0.00 0 , B4GALT1 0.00 0 , B4GALT7 0.00 0 , B4GAT1 0.00 0 , B9D1 0.00 0 , B9D2 0.00 0 , BANF1 0.00 0 , BBIP1 0.00 0 , BBS1 0.00 0 , BBS10 0.00 0 , BBS12 0.00 0 , BBS2 0.00 0 , BBS4 0.00 0 , BBS5 0.00 0 , BBS7 0.00 0 , BBS9 0.00 0 , BCAP31 0.00 0 , BCL11A 0.00 0 , BCL9L 0.00 0 , BCOR 0.00 0 , BCS1L 0.00 0 , BDNF 0.00 0 , BFSP2 0.00 0 , BGN 0.00 0 , BHLHA9 0.00 0 , BICC1 0.00 0 , BICD2 0.00 0 , BIN1 0.00 0 , BLM 0.00 0 , BLOC1S6 0.00 0 , BMP1 0.00 0 , BMP2 0.00 0 , BMP4 0.00 0 , BMPER 0.00 0 , BMPR1B 0.00 0 , BNC2 0.00 0 , BOLA3 0.00 0 , BPTF 0.00 0 , BRAF 0.00 0 , BRAT1 0.00 0 , BRCA2 0.00 0 , BRIP1 0.00 0 , BRPF1 0.00 0 , BSND 0.00 0 , BTD 0.00 0 , BUB1 0.00 0 , BUB1B 0.00 0 , BUB3 0.00 0 , C12ORF57 0.00 0 , MTRFR 0.00 0 , C1QBP 0.00 0 , MFRP 0.00 0 , C2CD3 0.00 0 , C4BPA 0.00 0 , C4BPB 0.00 0 , CFAP418 0.00 0 , CA2 0.00 0 , CA5A 0.00 0 , CA8 0.00 0 , CACNA1A 0.00 0 , CACNA1C 0.00 0 , CACNA1D 0.00 0 , CACNA1E 0.00 0 , CACNA1G 0.00 0 , CAMK2A 0.00 0 , CAMK2B 0.00 0 , CAMTA1 0.00 0 , CANT1 0.00 0 , CARS2 0.00 0 , CASK 0.00 0 , CASR 0.00 0 , CBL 0.00 0 , CC2D2A 0.00 0 , CCBE1 0.00 0 , CCDC103 0.00 0 , ODAD1 0.00 0 , ODAD3 0.00 0 , CCDC22 0.00 0 , CCDC28B 0.00 0 , CCDC39 0.00 0 , CCDC40 0.00 0 , CCDC78 0.00 0 , CCDC8 0.00 0 , CCDC88C 0.00 0 , CCM2 0.00 0 , CCND2 0.00 0 , CCNQ 0.00 0 , CD151 0.00 0 , CD55 0.00 0 , CD96 0.00 0 , CDAN1 0.00 0 , CDC45 0.00 0 , CDC6 0.00 0 , CDC73 0.00 0 , CDH1 0.00 0 , CDH11 0.00 0 , CDH3 0.00 0 , CDK13 0.00 0 , CDK5RAP2 0.00 0 , CDK8 0.00 0 , CDKL5 0.00 0 , CDKN1C 0.00 0 , CDON 0.00 0 , CDT1 0.00 0 , CELSR1 0.00 0 , CENPF 0.00 0 , CENPJ 0.00 0 , CEP104 0.00 0 , CEP120 0.00 0 , CEP135 0.00 0 , CEP152 0.00 0 , CEP164 0.00 0 , CEP290 0.00 0 , CEP41 0.00 0 , CEP55 0.00 0 , CEP57 0.00 0 , CEP63 0.00 0 , CEP83 0.00 0 , CERS3 0.00 0 , CERT1 0.00 0 , CFAP298 0.00 0 , CFAP300 0.00 0 , CFAP410 0.00 0 , CFAP53 0.00 0 , CFC1 0.00 0 , CFHR2 0.00 0 , CFL2 0.00 0 , CFTR 0.00 0 , CHAMP1 0.00 0 , CHAT 0.00 0 , CHD3 0.00 0 , CHD4 0.00 0 , CHD7 0.00 0 , CHD8 0.00 0 , CHKB 0.00 0 , CHMP1A 0.00 0 , CHN1 0.00 0 , CHRNA1 0.00 0 , CHRNA3 0.00 0 , CHRNB1 0.00 0 , CHRNB2 0.00 0 , CHRND 0.00 0 , CHRNE 0.00 0 , CHRNG 0.00 0 , CHST11 0.00 0 , CHST14 0.00 0 , CHST3 0.00 0 , CHSY1 0.00 0 , CHUK 0.00 0 , CILK1 0.00 0 , CIT 0.00 0 , CKAP2L 0.00 0 , CLCN7 0.00 0 , CLCNKB 0.00 0 , CLDN10 0.00 0 , CLMP 0.00 0 , CLP1 0.00 0 , CLPB 0.00 0 , CLPP 0.00 0 , CLTC 0.00 0 , CNKSR2 0.00 0 , CNOT1 0.00 0 , CNOT3 0.00 0 , CNTN1 0.00 0 , CNTNAP1 0.00 0 , CNTNAP2 0.00 0 , COASY 0.00 0 , COG1 0.00 0 , COG4 0.00 0 , COG5 0.00 0 , COG6 0.00 0 , COG7 0.00 0 , COG8 0.00 0 , COL10A1 0.00 0 , COL11A1 0.00 0 , COL11A2 0.00 0 , COL12A1 0.00 0 , COL13A1 0.00 0 , COL18A1 0.00 0 , COL1A1 0.00 0 , COL1A2 0.00 0 , COL25A1 0.00 0 , COL2A1 0.00 0 , COL3A1 0.00 0 , COL4A1 0.00 0 , COL4A2 0.00 0 , COL5A1 0.00 0 , COL5A2 0.00 0 , COL6A1 0.00 0 , COL6A2 0.00 0 , COL6A3 0.00 0 , COL7A1 0.00 0 , COL9A1 0.00 0 , COL9A2 0.00 0 , COLEC10 0.00 0 , COLEC11 0.00 0 , COLQ 0.00 0 , COMT 0.00 0 , COQ4 0.00 0 , COQ7 0.00 0 , COQ9 0.00 0 , COX7B 0.00 0 , CPAMD8 0.00 0 , CPLANE1 0.00 0 , CPT2 0.00 0 , CRADD 0.00 0 , CRB1 0.00 0 , CRB2 0.00 0 , CREB3L1 0.00 0 , CREBBP 0.00 0 , CRELD1 0.00 0 , CRH 0.00 0 , CRIPT 0.00 0 , CRLF1 0.00 0 , CRPPA 0.00 0 , CRTAP 0.00 0 , CRX 0.00 0 , CRYAA 0.00 0 , CRYBA1 0.00 0 , CRYBA4 0.00 0 , CRYBB1 0.00 0 , CRYBB2 0.00 0 , CRYBB3 0.00 0 , CRYGC 0.00 0 , CRYGD 0.00 0 , CSF1R 0.00 0 , CSNK2A1 0.00 0 , CSPP1 0.00 0 , CSTA 0.00 0 , CTC1 0.00 0 , CTCF 0.00 0 , CTDP1 0.00 0 , CTNNB1 0.00 0 , CTNND1 0.00 0 , CTNS 0.00 0 , CTSA 0.00 0 , CTSD 0.00 0 , CTSK 0.00 0 , CTU2 0.00 0 , CUL4B 0.00 0 , CUL7 0.00 0 , CUX2 0.00 0 , CWC27 0.00 0 , CXCR4 0.00 0 , CYB5R3 0.00 0 , CYP11A1 0.00 0 , CYP11B1 0.00 0 , CYP17A1 0.00 0 , CYP19A1 0.00 0 , CYP1B1 0.00 0 , CYP21A2 0.00 0 , CYP26B1 0.00 0 , CYP2U1 0.00 0 , CYP4F22 0.00 0 , DACH1 0.00 0 , DAG1 0.00 0 , DARS1 0.00 0 , DCC 0.00 0 , DCDC2 0.00 0 , DCHS1 0.00 0 , DCX 0.00 0 , DDHD2 0.00 0 , DDR2 0.00 0 , DDX11 0.00 0 , DDX3X 0.00 0 , DDX59 0.00 0 , DDX6 0.00 0 , DENND5A 0.00 0 , DHCR24 0.00 0 , DHCR7 0.00 0 , DHDDS 0.00 0 , DHFR 0.00 0 , DHH 0.00 0 , DHODH 0.00 0 , DHTKD1 0.00 0 , DHX30 0.00 0 , DIAPH1 0.00 0 , DIS3L2 0.00 0 , DISP1 0.00 0 , DKC1 0.00 0 , DLG4 0.00 0 , DLL3 0.00 0 , DLL4 0.00 0 , DLX5 0.00 0 , DMD 0.00 0 , DMPK 0.00 0 , DNAAF1 0.00 0 , DNAAF2 0.00 0 , DNAAF3 0.00 0 , DNAAF4 0.00 0 , DNAAF5 0.00 0 , DNAH11 0.00 0 , DNAH5 0.00 0 , DNAH9 0.00 0 , DNAI1 0.00 0 , DNAI2 0.00 0 , DNAJB11 0.00 0 , DNAJC12 0.00 0 , DNAJC19 0.00 0 , DNM1 0.00 0 , DNM1L 0.00 0 , DNM2 0.00 0 , DNMT3A 0.00 0 , DNMT3B 0.00 0 , DOCK6 0.00 0 , DOCK7 0.00 0 , DOK7 0.00 0 , DOLK 0.00 0 , DONSON 0.00 0 , DPAGT1 0.00 0 , DPF2 0.00 0 , DPH1 0.00 0 , DPM1 0.00 0 , DPM2 0.00 0 , DPM3 0.00 0 , DPYD 0.00 0 , DRC1 0.00 0 , DSG1 0.00 0 , DSP 0.00 0 , DSTYK 0.00 0 , DUSP6 0.00 0 , DVL1 0.00 0 , DVL3 0.00 0 , DYM 0.00 0 , DYNC1H1 0.00 0 , DYNC2H1 0.00 0 , DYNC2LI1 0.00 0 , DYRK1A 0.00 0 , DZIP1L 0.00 0 , EARS2 0.00 0 , EBF3 0.00 0 , GLB1 0.00 0 , ECEL1 0.00 0 , EDA 0.00 0 , EDN1 0.00 0 , EDNRA 0.00 0 , EDNRB 0.00 0 , EED 0.00 0 , EEF1A2 0.00 0 , EFL1 0.00 0 , EFNB1 0.00 0 , EFTUD2 0.00 0 , EGR2 0.00 0 , EHBP1L1 0.00 0 , EHHADH 0.00 0 , EHMT1 0.00 0 , EIF2AK3 0.00 0 , EIF2B2 0.00 0 , EIF2B3 0.00 0 , EIF2S3 0.00 0 , EIF4A3 0.00 0 , EIF5A 0.00 0 , ELAC2 0.00 0 , ELMO2 0.00 0 , ELN 0.00 0 , ELOVL4 0.00 0 , EMC1 0.00 0 , EMD 0.00 0 , EMG1 0.00 0 , EML1 0.00 0 , EMX2 0.00 0 , ENPP1 0.00 0 , EOGT 0.00 0 , EP300 0.00 0 , EPG5 0.00 0 , EPHB4 0.00 0 , EPHX1 0.00 0 , ERBB3 0.00 0 , ERCC1 0.00 0 , ERCC2 0.00 0 , ERCC3 0.00 0 , ERCC4 0.00 0 , ERCC5 0.00 0 , ERCC6 0.00 0 , ERCC8 0.00 0 , ERF 0.00 0 , ERGIC1 0.00 0 , ERLIN2 0.00 0 , ESCO2 0.00 0 , ESRRG 0.00 0 , ETFA 0.00 0 , ETFB 0.00 0 , ETFDH 0.00 0 , EVC 0.00 0 , EVC2 0.00 0 , EXOC3L2 0.00 0 , EXOSC3 0.00 0 , EXPH5 0.00 0 , EXT1 0.00 0 , EXT2 0.00 0 , EXTL3 0.00 0 , EYA1 0.00 0 , EZH2 0.00 0 , FA2H 0.00 0 , FANCA 0.00 0 , FAM111A 0.00 0 , HYCC1 0.00 0 , FAM20A 0.00 0 , FAM20C 0.00 0 , FANCB 0.00 0 , FANCC 0.00 0 , FANCD2 0.00 0 , FANCE 0.00 0 , FANCF 0.00 0 , FANCG 0.00 0 , FANCI 0.00 0 , FANCL 0.00 0 , FANCM 0.00 0 , FAR1 0.00 0 , FAT4 0.00 0 , FBLN5 0.00 0 , FBN1 0.00 0 , FBN2 0.00 0 , FBXL4 0.00 0 , FEZF1 0.00 0 , FGD1 0.00 0 , FGF10 0.00 0 , FGF17 0.00 0 , FGF3 0.00 0 , FGF8 0.00 0 , FGF9 0.00 0 , FGFR1 0.00 0 , FGFR2 0.00 0 , FGFR3 0.00 0 , FGG 0.00 0 , FH 0.00 0 , FIG4 0.00 0 , FKBP10 0.00 0 , FKBP14 0.00 0 , FKBP8 0.00 0 , FKRP 0.00 0 , FKTN 0.00 0 , FLNA 0.00 0 , FLNB 0.00 0 , FLNC 0.00 0 , FLRT3 0.00 0 , FLT4 0.00 0 , FLVCR2 0.00 0 , FMN2 0.00 0 , FN1 0.00 0 , FOLR1 0.00 0 , FOXC1 0.00 0 , FOXC2 0.00 0 , FOXE1 0.00 0 , FOXE3 0.00 0 , FOXF1 0.00 0 , FOXG1 0.00 0 , FOXL2 0.00 0 , FOXP2 0.00 0 , FOXP3 0.00 0 , FOXP4 0.00 0 , FOXRED1 0.00 0 , FRAS1 0.00 0 , FREM1 0.00 0 , FREM2 0.00 0 , FRMD4A 0.00 0 , FRMPD4 0.00 0 , FRRS1L 0.00 0 , FTL 0.00 0 , FTO 0.00 0 , FUCA1 0.00 0 , FUT8 0.00 0 , FUZ 0.00 0 , FYCO1 0.00 0 , FZD2 0.00 0 , FZD5 0.00 0 , G6PC3 0.00 0 , GAA 0.00 0 , GABRA1 0.00 0 , GABRB2 0.00 0 , GABRG2 0.00 0 , GALC 0.00 0 , GALE 0.00 0 , GALK1 0.00 0 , GALNS 0.00 0 , GALNT2 0.00 0 , GANAB 0.00 0 , GATA1 0.00 0 , GATA2 0.00 0 , GATA3 0.00 0 , GATA4 0.00 0 , GATA6 0.00 0 , GBA1 0.00 0 , GBA2 0.00 0 , GBE1 0.00 0 , GCDH 0.00 0 , GCSH 0.00 0 , GDF1 0.00 0 , GDF3 0.00 0 , GDF5 0.00 0 , GDF6 0.00 0 , GFAP 0.00 0 , GFM1 0.00 0 , GFPT1 0.00 0 , GFRA1 0.00 0 , GJA1 0.00 0 , GJA3 0.00 0 , GJA8 0.00 0 , GJB2 0.00 0 , GJC2 0.00 0 , GLA 0.00 0 , GLDC 0.00 0 , GLDN 0.00 0 , GLE1 0.00 0 , GLI1 0.00 0 , GLI2 0.00 0 , GLI3 0.00 0 , GLIS2 0.00 0 , GLIS3 0.00 0 , GLUL 0.00 0 , GM2A 0.00 0 , GMNN 0.00 0 , GMPPB 0.00 0 , GNA11 0.00 0 , GNA14 0.00 0 , GNAI1 0.00 0 , GNAI3 0.00 0 , GNAO1 0.00 0 , GNAQ 0.00 0 , GNAS 0.00 0 , GNB1 0.00 0 , GNB5 0.00 0 , GNPAT 0.00 0 , GNPTAB 0.00 0 , GNPTG 0.00 0 , GNS 0.00 0 , GORAB 0.00 0 , GP1BB 0.00 0 , GPAA1 0.00 0 , GPC3 0.00 0 , GPC6 0.00 0 , GPI 0.00 0 , GPKOW 0.00 0 , GPSM2 0.00 0 , GPX4 0.00 0 , GREB1L 0.00 0 , GRHL2 0.00 0 , GRHL3 0.00 0 , GRIN1 0.00 0 , GRIN2B 0.00 0 , GRIN2D 0.00 0 , GRIP1 0.00 0 , GRM1 0.00 0 , GSC 0.00 0 , GSPT2 0.00 0 , GTF2E2 0.00 0 , GTF2H5 0.00 0 , GTPBP3 0.00 0 , GUCY2C 0.00 0 , GUCY2D 0.00 0 , GUSB 0.00 0 , GZF1 0.00 0 , H1-4 0.00 0 , H4C3 0.00 0 , HAAO 0.00 0 , HADHA 0.00 0 , HADHB 0.00 0 , HBA1 0.00 0 , HBA2 0.00 0 , HCCS 0.00 0 , HCFC1 0.00 0 , HDAC8 0.00 0 , HES7 0.00 0 , HESX1 0.00 0 , HGSNAT 0.00 0 , HIBCH 0.00 0 , HIRA 0.00 0 , HIVEP2 0.00 0 , HLX 0.00 0 , HMGA2 0.00 0 , HMX1 0.00 0 , HNF1B 0.00 0 , HNF4A 0.00 0 , HNRNPH2 0.00 0 , HNRNPK 0.00 0 , HOXA1 0.00 0 , HOXA11 0.00 0 , HOXA13 0.00 0 , HOXA2 0.00 0 , HOXB1 0.00 0 , HOXD13 0.00 0 , HPD 0.00 0 , HPGD 0.00 0 , HPSE2 0.00 0 , HR 0.00 0 , HRAS 0.00 0 , HS6ST1 0.00 0 , HSD17B3 0.00 0 , HSD17B4 0.00 0 , HSF4 0.00 0 , HSPD1 0.00 0 , HSPG2 0.00 0 , HUWE1 0.00 0 , HYAL1 0.00 0 , HYLS1 0.00 0 , IARS1 0.00 0 , IBA57 0.00 0 , IDH1 0.00 0 , IDS 0.00 0 , IDUA 0.00 0 , IER3IP1 0.00 0 , IFIH1 0.00 0 , IFITM5 0.00 0 , IFT122 0.00 0 , IFT140 0.00 0 , IFT172 0.00 0 , IFT27 0.00 0 , IFT43 0.00 0 , IFT52 0.00 0 , IFT80 0.00 0 , IFT81 0.00 0 , IFT88 0.00 0 , IGBP1 0.00 0 , IGF1 0.00 0 , IGF1R 0.00 0 , IGF2 0.00 0 , IGFBP7 0.00 0 , IGHMBP2 0.00 0 , IHH 0.00 0 , IKBKG 0.00 0 , IL11RA 0.00 0 , IL17RD 0.00 0 , IL1RAPL1 0.00 0 , BPNT2 0.00 0 , IMPDH1 0.00 0 , INCENP 0.00 0 , INPP5B 0.00 0 , INPP5E 0.00 0 , INPP5K 0.00 0 , INPPL1 0.00 0 , INSR 0.00 0 , INTU 0.00 0 , INVS 0.00 0 , IQCB1 0.00 0 , IRF6 0.00 0 , IRX1 0.00 0 , IRX5 0.00 0 , ITCH 0.00 0 , ITGA3 0.00 0 , ITGA6 0.00 0 , ITGA8 0.00 0 , ITGB4 0.00 0 , ITPR1 0.00 0 , JAG1 0.00 0 , JAM3 0.00 0 , JUP 0.00 0 , KANSL1 0.00 0 , KAT6A 0.00 0 , KAT6B 0.00 0 , KATNB1 0.00 0 , KCNA1 0.00 0 , KCNC3 0.00 0 , KCNH1 0.00 0 , KCNJ1 0.00 0 , KCNJ13 0.00 0 , KCNJ2 0.00 0 , KCNJ6 0.00 0 , KCNJ8 0.00 0 , KCNK9 0.00 0 , KCNQ2 0.00 0 , KCNQ5 0.00 0 , KCNT1 0.00 0 , KCTD1 0.00 0 , KCTD7 0.00 0 , KDM1A 0.00 0 , KDM5C 0.00 0 , KDM6A 0.00 0 , KATNIP 0.00 0 , KIAA0586 0.00 0 , KIAA0753 0.00 0 , BLTP1 0.00 0 , KIDINS220 0.00 0 , KIF11 0.00 0 , KIF14 0.00 0 , KIF1A 0.00 0 , KIF22 0.00 0 , KIF26B 0.00 0 , KIF2A 0.00 0 , KIF5C 0.00 0 , KIF7 0.00 0 , KIFBP 0.00 0 , KISS1R 0.00 0 , KLF1 0.00 0 , KLHL40 0.00 0 , KLHL41 0.00 0 , KLHL7 0.00 0 , KMT2A 0.00 0 , KMT2B 0.00 0 , KMT2C 0.00 0 , KMT2D 0.00 0 , KNL1 0.00 0 , KPTN 0.00 0 , KRAS 0.00 0 , KRIT1 0.00 0 , KRT74 0.00 0 , KYNU 0.00 0 , L1CAM 0.00 0 , L2HGDH 0.00 0 , LAGE3 0.00 0 , LAMA1 0.00 0 , LAMA2 0.00 0 , LAMA5 0.00 0 , LAMB1 0.00 0 , LAMC3 0.00 0 , LARGE1 0.00 0 , LARP7 0.00 0 , LARS2 0.00 0 , LBR 0.00 0 , LCA5 0.00 0 , LEMD3 0.00 0 , LFNG 0.00 0 , LGI4 0.00 0 , LHB 0.00 0 , LHX3 0.00 0 , LHX4 0.00 0 , LIAS 0.00 0 , LIFR 0.00 0 , LIG4 0.00 0 , LINS1 0.00 0 , LIPA 0.00 0 , LIPN 0.00 0 , LIPT1 0.00 0 , LIPT2 0.00 0 , LMBR1 0.00 0 , LMBRD1 0.00 0 , LMNA 0.00 0 , LMNB1 0.00 0 , LMNB2 0.00 0 , LMOD3 0.00 0 , LMX1B 0.00 0 , LONP1 0.00 0 , LRAT 0.00 0 , LRBA 0.00 0 , LRIG2 0.00 0 , LRIT3 0.00 0 , LRP2 0.00 0 , CORIN 0.00 0 , LRP5 0.00 0 , LRRC56 0.00 0 , DNAAF11 0.00 0 , LTBP3 0.00 0 , LTBP4 0.00 0 , LYST 0.00 0 , LZTFL1 0.00 0 , LZTR1 0.00 0 , MAB21L2 0.00 0 , MACF1 0.00 0 , MAF 0.00 0 , MAFB 0.00 0 , MAGEL2 0.00 0 , MAMLD1 0.00 0 , MAN1B1 0.00 0 , MANBA 0.00 0 , MAP2K1 0.00 0 , MAP2K2 0.00 0 , MAP3K1 0.00 0 , MAP3K20 0.00 0 , MAP3K7 0.00 0 , MAPKBP1 0.00 0 , MAPRE2 0.00 0 , MASP1 0.00 0 , MAT1A 0.00 0 , MATN3 0.00 0 , MBOAT7 0.00 0 , MBTPS2 0.00 0 , MCOLN1 0.00 0 , MCPH1 0.00 0 , MDH2 0.00 0 , MECOM 0.00 0 , MECP2 0.00 0 , MECR 0.00 0 , MED12 0.00 0 , MED13L 0.00 0 , MED17 0.00 0 , MED28 0.00 0 , MEF2C 0.00 0 , MEGF10 0.00 0 , MEGF8 0.00 0 , MEIS2 0.00 0 , MEOX1 0.00 0 , MESD 0.00 0 , MESP2 0.00 0 , MFSD2A 0.00 0 , MGP 0.00 0 , MID1 0.00 0 , MIPOL1 0.00 0 , MITF 0.00 0 , MKKS 0.00 0 , MKS1 0.00 0 , MLC1 0.00 0 , MLH1 0.00 0 , MLYCD 0.00 0 , MMACHC 0.00 0 , MMADHC 0.00 0 , MMP13 0.00 0 , MMP15 0.00 0 , MMP21 0.00 0 , MN1 0.00 0 , MNX1 0.00 0 , MOCOS 0.00 0 , MOCS1 0.00 0 , MOCS2 0.00 0 , MOGS 0.00 0 , MPDU1 0.00 0 , MPDZ 0.00 0 , MPL 0.00 0 , MPLKIP 0.00 0 , MPZ 0.00 0 , MRAS 0.00 0 , MRPS16 0.00 0 , MRPS22 0.00 0 , MRPS34 0.00 0 , MSH2 0.00 0 , MSH6 0.00 0 , MSL3 0.00 0 , MSMO1 0.00 0 , MSTO1 0.00 0 , MSX1 0.00 0 , MSX2 0.00 0 , MTM1 0.00 0 , MTO1 0.00 0 , MTOR 0.00 0 , MUSK 0.00 0 , MVK 0.00 0 , MYBPC1 0.00 0 , MYCN 0.00 0 , MYH10 0.00 0 , MYH11 0.00 0 , MYH2 0.00 0 , MYH3 0.00 0 , MYH6 0.00 0 , MYH7 0.00 0 , MYH8 0.00 0 , MYH9 0.00 0 , MYL1 0.00 0 , MYL9 0.00 0 , MYLK 0.00 0 , MYMK 0.00 0 , MYO18B 0.00 0 , MYO9A 0.00 0 , MYOCD 0.00 0 , MYOD1 0.00 0 , MYPN 0.00 0 , MYRF 0.00 0 , MYT1 0.00 0 , NAA10 0.00 0 , NAA15 0.00 0 , NACC1 0.00 0 , NADSYN1 0.00 0 , NAGA 0.00 0 , NAGLU 0.00 0 , NALCN 0.00 0 , NANS 0.00 0 , NAXE 0.00 0 , NBAS 0.00 0 , NBN 0.00 0 , NDE1 0.00 0 , NDP 0.00 0 , NDUFA10 0.00 0 , NDUFAF2 0.00 0 , NDUFAF5 0.00 0 , NDUFB11 0.00 0 , NEB 0.00 0 , NECTIN1 0.00 0 , NECTIN4 0.00 0 , NEDD4L 0.00 0 , NEK1 0.00 0 , NEK9 0.00 0 , NEU1 0.00 0 , NEXMIF 0.00 0 , NF1 0.00 0 , NFIX 0.00 0 , NHEJ1 0.00 0 , NHP2 0.00 0 , NHS 0.00 0 , NIN 0.00 0 , NIPAL4 0.00 0 , NIPBL 0.00 0 , NKX2-5 0.00 0 , NKX3-2 0.00 0 , NKX6-2 0.00 0 , NLRC4 0.00 0 , RMRP 0.00 0 , NMNAT1 0.00 0 , NMNAT2 0.00 0 , NODAL 0.00 0 , NOG 0.00 0 , NONO 0.00 0 , NOTCH1 0.00 0 , NOTCH2 0.00 0 , NOVA2 0.00 0 , NPC1 0.00 0 , NPC2 0.00 0 , NPHP1 0.00 0 , NPHP3 0.00 0 , NPHP4 0.00 0 , NPHS1 0.00 0 , NPRL2 0.00 0 , NR0B1 0.00 0 , NR2F2 0.00 0 , NR5A1 0.00 0 , NRAS 0.00 0 , NRXN2 0.00 0 , NSD1 0.00 0 , NSDHL 0.00 0 , NSMF 0.00 0 , NSUN2 0.00 0 , NT5C2 0.00 0 , NTRK2 0.00 0 , NUAK2 0.00 0 , NUBPL 0.00 0 , NUP107 0.00 0 , NUP62 0.00 0 , NUP88 0.00 0 , NUS1 0.00 0 , NXN 0.00 0 , OBSL1 0.00 0 , OCLN 0.00 0 , OCRL 0.00 0 , ODC1 0.00 0 , OFD1 0.00 0 , OPHN1 0.00 0 , SLC25A15 0.00 0 , ORC4 0.00 0 , ORC6 0.00 0 , OSGEP 0.00 0 , OSTM1 0.00 0 , OTUD5 0.00 0 , OTUD6B 0.00 0 , OTX2 0.00 0 , P3H1 0.00 0 , P4HB 0.00 0 , PACS1 0.00 0 , PAFAH1B1 0.00 0 , PAICS 0.00 0 , PAK3 0.00 0 , PALB2 0.00 0 , PAPSS2 0.00 0 , PARN 0.00 0 , PAX2 0.00 0 , PAX3 0.00 0 , PAX6 0.00 0 , PAX7 0.00 0 , PAX8 0.00 0 , PBX1 0.00 0 , PCGF2 0.00 0 , PCNT 0.00 0 , PCYT1A 0.00 0 , PDCD10 0.00 0 , PDE10A 0.00 0 , PDE4D 0.00 0 , PDE6D 0.00 0 , PDE6H 0.00 0 , PDGFB 0.00 0 , PDGFRB 0.00 0 , PDHA1 0.00 0 , PDHB 0.00 0 , PDHX 0.00 0 , PDSS1 0.00 0 , PDYN 0.00 0 , PEPD 0.00 0 , PET100 0.00 0 , PEX1 0.00 0 , PEX10 0.00 0 , PEX11B 0.00 0 , PEX12 0.00 0 , PEX13 0.00 0 , PEX14 0.00 0 , PEX16 0.00 0 , PEX19 0.00 0 , PEX2 0.00 0 , PEX26 0.00 0 , PEX3 0.00 0 , PEX5 0.00 0 , PEX6 0.00 0 , PEX7 0.00 0 , PFKM 0.00 0 , PGAP1 0.00 0 , PGAP2 0.00 0 , PGAP3 0.00 0 , PGM1 0.00 0 , PGM3 0.00 0 , PHF21A 0.00 0 , PHF6 0.00 0 , PHF8 0.00 0 , PHGDH 0.00 0 , PHIP 0.00 0 , PHOX2B 0.00 0 , PIBF1 0.00 0 , PIEZO1 0.00 0 , PIEZO2 0.00 0 , PIGA 0.00 0 , PIGG 0.00 0 , PIGL 0.00 0 , PIGN 0.00 0 , PIGO 0.00 0 , PIGS 0.00 0 , PIGT 0.00 0 , PIGV 0.00 0 , PIGY 0.00 0 , DNAAF6 0.00 0 , PIK3C2A 0.00 0 , PIK3CA 0.00 0 , PIK3R1 0.00 0 , PIK3R2 0.00 0 , PIP5K1C 0.00 0 , PITX1 0.00 0 , PITX2 0.00 0 , PITX3 0.00 0 , PKD1 0.00 0 , PKD1L1 0.00 0 , PKD2 0.00 0 , PKHD1 0.00 0 , PKLR 0.00 0 , PLAA 0.00 0 , PLAG1 0.00 0 , PLCB1 0.00 0 , PLCB4 0.00 0 , PRKCSH 0.00 0 , PLEC 0.00 0 , PLG 0.00 0 , PLK4 0.00 0 , PLOD1 0.00 0 , PLOD2 0.00 0 , PLOD3 0.00 0 , PLP1 0.00 0 , PLPBP 0.00 0 , PMM2 0.00 0 , PMP22 0.00 0 , PMS2 0.00 0 , PNKP 0.00 0 , PNPLA1 0.00 0 , POC1A 0.00 0 , POGZ 0.00 0 , POLE 0.00 0 , POLG2 0.00 0 , POLR1A 0.00 0 , POLR1B 0.00 0 , POLR1C 0.00 0 , POLR1D 0.00 0 , POLR3A 0.00 0 , POLR3B 0.00 0 , POMGNT1 0.00 0 , POMGNT2 0.00 0 , POMK 0.00 0 , POMT1 0.00 0 , POMT2 0.00 0 , BVES 0.00 0 , PORCN 0.00 0 , POU1F1 0.00 0 , PPIB 0.00 0 , PPP1CB 0.00 0 , PPP2R1A 0.00 0 , PPP2R5D 0.00 0 , PPP3CA 0.00 0 , PQBP1 0.00 0 , PRDM5 0.00 0 , PREPL 0.00 0 , PRG4 0.00 0 , PRIM1 0.00 0 , PRKAG2 0.00 0 , PRKAR1A 0.00 0 , PRKD1 0.00 0 , PRMT7 0.00 0 , PROK2 0.00 0 , PROKR2 0.00 0 , PROP1 0.00 0 , PRR12 0.00 0 , PRRX1 0.00 0 , PRSS56 0.00 0 , PRUNE1 0.00 0 , PRX 0.00 0 , PSAP 0.00 0 , PSAT1 0.00 0 , PSPH 0.00 0 , PTCH1 0.00 0 , PTCH2 0.00 0 , PTDSS1 0.00 0 , PTEN 0.00 0 , PTF1A 0.00 0 , PTH 0.00 0 , PTH1R 0.00 0 , PTHLH 0.00 0 , PTPN11 0.00 0 , PTPN14 0.00 0 , PTS 0.00 0 , PUF60 0.00 0 , PXDN 0.00 0 , PYCR1 0.00 0 , PYCR2 0.00 0 , PYGM 0.00 0 , PYROXD1 0.00 0 , QARS1 0.00 0 , QRICH1 0.00 0 , RAB11A 0.00 0 , RAB11B 0.00 0 , RAB18 0.00 0 , RAB23 0.00 0 , RAB33B 0.00 0 , RAB3GAP1 0.00 0 , RAB3GAP2 0.00 0 , RAB40AL 0.00 0 , RAC1 0.00 0 , NCOA3 0.00 0 , RAD21 0.00 0 , RAD51 0.00 0 , RAD51C 0.00 0 , RAF1 0.00 0 , RAI1 0.00 0 , RAPSN 0.00 0 , RARB 0.00 0 , RARS2 0.00 0 , RASA1 0.00 0 , PRKRA 0.00 0 , RB1 0.00 0 , RBBP8 0.00 0 , RBM10 0.00 0 , RBM8A 0.00 0 , RBPJ 0.00 0 , RCOR1 0.00 0 , RD3 0.00 0 , RDH12 0.00 0 , RECQL4 0.00 0 , RELN 0.00 0 , REN 0.00 0 , RERE 0.00 0 , RET 0.00 0 , RFT1 0.00 0 , RFX6 0.00 0 , RIN2 0.00 0 , RIPK4 0.00 0 , RIT1 0.00 0 , RLIM 0.00 0 , RMND1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNASET2 0.00 0 , ROBO1 0.00 0 , ROBO3 0.00 0 , ROGDI 0.00 0 , ROR2 0.00 0 , RORA 0.00 0 , RPE65 0.00 0 , RPGRIP1 0.00 0 , RPGRIP1L 0.00 0 , RPL15 0.00 0 , RPL11 0.00 0 , RPL26 0.00 0 , RPL35A 0.00 0 , RPL5 0.00 0 , RPS10 0.00 0 , RPS17 0.00 0 , RPS19 0.00 0 , RPS23 0.00 0 , RPS24 0.00 0 , RPS26 0.00 0 , RPS6KA3 0.00 0 , RPS7 0.00 0 , RRAS 0.00 0 , RRAS2 0.00 0 , RRM2B 0.00 0 , RSPH4A 0.00 0 , RSPH9 0.00 0 , RSPRY1 0.00 0 , RTEL1 0.00 0 , RTTN 0.00 0 , RUNX2 0.00 0 , RXYLT1 0.00 0 , RYR1 0.00 0 , SACS 0.00 0 , SALL1 0.00 0 , SALL4 0.00 0 , SAMD9 0.00 0 , SAMHD1 0.00 0 , SASS6 0.00 0 , SATB2 0.00 0 , SBDS 0.00 0 , SC5D 0.00 0 , SCARF2 0.00 0 , SCLT1 0.00 0 , SCN1A 0.00 0 , SCN2A 0.00 0 , SCN3A 0.00 0 , SCN4A 0.00 0 , SCO2 0.00 0 , SCUBE3 0.00 0 , SCYL1 0.00 0 , SDCCAG8 0.00 0 , SDR9C7 0.00 0 , SEC23A 0.00 0 , SEC23B 0.00 0 , SEC24D 0.00 0 , SEC61B 0.00 0 , SECISBP2 0.00 0 , SELENON 0.00 0 , SEMA3A 0.00 0 , SEMA3E 0.00 0 , SEPSECS 0.00 0 , SEPTIN9 0.00 0 , SERPINF1 0.00 0 , SERPINH1 0.00 0 , SET 0.00 0 , SETBP1 0.00 0 , SETD1A 0.00 0 , SETD1B 0.00 0 , SETD2 0.00 0 , SETD5 0.00 0 , SF3B4 0.00 0 , SGCG 0.00 0 , SGPL1 0.00 0 , SGSH 0.00 0 , SH3PXD2B 0.00 0 , SHANK1 0.00 0 , SHANK2 0.00 0 , SHANK3 0.00 0 , SHH 0.00 0 , SHOC2 0.00 0 , SHOX 0.00 0 , SHROOM3 0.00 0 , SIK3 0.00 0 , SIL1 0.00 0 , SIN3A 0.00 0 , SIX1 0.00 0 , SIX3 0.00 0 , SIX5 0.00 0 , SIX6 0.00 0 , HHAT 0.00 0 , SLC10A7 0.00 0 , SLC12A1 0.00 0 , SLC12A6 0.00 0 , SLC13A5 0.00 0 , SLC16A2 0.00 0 , SLC17A5 0.00 0 , SLC18A3 0.00 0 , SLC1A2 0.00 0 , SLC20A1 0.00 0 , SLC20A2 0.00 0 , SLC24A4 0.00 0 , SLC25A19 0.00 0 , SLC25A20 0.00 0 , SLC25A22 0.00 0 , SLC25A24 0.00 0 , SLC25A38 0.00 0 , SLC25A4 0.00 0 , SLC26A2 0.00 0 , SLC26A3 0.00 0 , SLC27A4 0.00 0 , SLC29A3 0.00 0 , SLC2A10 0.00 0 , SLC33A1 0.00 0 , SLC35A1 0.00 0 , SLC35A2 0.00 0 , SLC35A3 0.00 0 , SLC35C1 0.00 0 , SLC35D1 0.00 0 , SLC39A8 0.00 0 , SLC45A1 0.00 0 , SLC5A7 0.00 0 , SLC6A17 0.00 0 , SLC6A8 0.00 0 , SLC6A9 0.00 0 , SLC7A9 0.00 0 , SLC9A6 0.00 0 , SLIT2 0.00 0 , SLX4 0.00 0 , SMAD3 0.00 0 , SMAD4 0.00 0 , SMARCA2 0.00 0 , SMARCA4 0.00 0 , SMARCB1 0.00 0 , SMARCC1 0.00 0 , SMARCE1 0.00 0 , SMC1A 0.00 0 , SMC3 0.00 0 , SMCHD1 0.00 0 , SMG9 0.00 0 , SMN1 0.00 0 , SMO 0.00 0 , SMOC1 0.00 0 , SMOC2 0.00 0 , SMPD1 0.00 0 , SMPD4 0.00 0 , SNAP25 0.00 0 , SNAP29 0.00 0 , SNIP1 0.00 0 , SNRPB 0.00 0 , SNRPE 0.00 0 , SNX10 0.00 0 , SNX14 0.00 0 , SON 0.00 0 , SOS1 0.00 0 , SOS2 0.00 0 , SOST 0.00 0 , SOX10 0.00 0 , SOX11 0.00 0 , SOX17 0.00 0 , SOX18 0.00 0 , SOX2 0.00 0 , SOX3 0.00 0 , SOX5 0.00 0 , SOX6 0.00 0 , SOX9 0.00 0 , SP7 0.00 0 , SPAG1 0.00 0 , SPARC 0.00 0 , AFG2A 0.00 0 , SPATA7 0.00 0 , SPECC1L 0.00 0 , SPEG 0.00 0 , SPG11 0.00 0 , SPRED1 0.00 0 , SPRY4 0.00 0 , SPTAN1 0.00 0 , SRCAP 0.00 0 , SRD5A2 0.00 0 , SRD5A3 0.00 0 , SRGAP1 0.00 0 , SRP54 0.00 0 , SRY 0.00 0 , ST14 0.00 0 , ST3GAL3 0.00 0 , ST3GAL5 0.00 0 , STAC3 0.00 0 , STAG2 0.00 0 , STAMBP 0.00 0 , STAT3 0.00 0 , STAT5B 0.00 0 , STIL 0.00 0 , STRA6 0.00 0 , STRADA 0.00 0 , STS 0.00 0 , STX1B 0.00 0 , STXBP1 0.00 0 , SUCLG1 0.00 0 , SUFU 0.00 0 , SULT2B1 0.00 0 , SUMF1 0.00 0 , SUMO1 0.00 0 , SUZ12 0.00 0 , SYN1 0.00 0 , SYNE1 0.00 0 , SYNM 0.00 0 , SZT2 0.00 0 , TAB2 0.00 0 , TAC3 0.00 0 , TACO1 0.00 0 , TACR3 0.00 0 , TAF1 0.00 0 , TAF13 0.00 0 , TAF2 0.00 0 , TALDO1 0.00 0 , TAPT1 0.00 0 , WWTR1 0.00 0 , TBC1D1 0.00 0 , TBC1D20 0.00 0 , TBC1D23 0.00 0 , TBC1D24 0.00 0 , TBC1D32 0.00 0 , TBCD 0.00 0 , TBCE 0.00 0 , TBCK 0.00 0 , TBL1XR1 0.00 0 , TBR1 0.00 0 , TBX1 0.00 0 , TBX15 0.00 0 , TBX18 0.00 0 , TBX20 0.00 0 , TBX22 0.00 0 , TBX3 0.00 0 , TBX4 0.00 0 , TBX5 0.00 0 , TBX6 0.00 0 , TBXT 0.00 0 , TCF12 0.00 0 , TCF20 0.00 0 , TCF4 0.00 0 , TCIRG1 0.00 0 , TCOF1 0.00 0 , DYNLT2B 0.00 0 , TCTN1 0.00 0 , TCTN2 0.00 0 , TCTN3 0.00 0 , TECPR2 0.00 0 , TELO2 0.00 0 , TENM3 0.00 0 , TENT5A 0.00 0 , TFAP2A 0.00 0 , TFAP2B 0.00 0 , TGDS 0.00 0 , TGFB2 0.00 0 , TGFB3 0.00 0 , TGFBR1 0.00 0 , TGFBR2 0.00 0 , TGIF1 0.00 0 , TGM1 0.00 0 , THOC2 0.00 0 , THOC6 0.00 0 , THRA 0.00 0 , THSD1 0.00 0 , TINF2 0.00 0 , TLL1 0.00 0 , TMCO1 0.00 0 , TMEM107 0.00 0 , TMEM138 0.00 0 , TMEM165 0.00 0 , TMEM216 0.00 0 , TMEM231 0.00 0 , TMEM237 0.00 0 , TMEM260 0.00 0 , TMEM38B 0.00 0 , TMEM67 0.00 0 , TMEM70 0.00 0 , TMEM94 0.00 0 , TMEM98 0.00 0 , TMTC3 0.00 0 , TMX2 0.00 0 , TNC 0.00 0 , TNFRSF13B 0.00 0 , TNNI2 0.00 0 , TNNT1 0.00 0 , TNNT3 0.00 0 , TNXB 0.00 0 , TOE1 0.00 0 , TOP3A 0.00 0 , TOR1A 0.00 0 , TP53RK 0.00 0 , TP63 0.00 0 , TPM2 0.00 0 , TPM3 0.00 0 , TRAF3IP1 0.00 0 , TRAF7 0.00 0 , TRAIP 0.00 0 , TRAP1 0.00 0 , TRAPPC11 0.00 0 , TRAPPC12 0.00 0 , TRAPPC9 0.00 0 , TREM2 0.00 0 , TREX1 0.00 0 , TRIM32 0.00 0 , TRIM37 0.00 0 , TRIO 0.00 0 , TRIP11 0.00 0 , TRIP12 0.00 0 , TRIP13 0.00 0 , TRIP4 0.00 0 , TRMT10A 0.00 0 , TRMT10C 0.00 0 , TRPM7 0.00 0 , TRPS1 0.00 0 , TRPV3 0.00 0 , TRPV4 0.00 0 , TRPV6 0.00 0 , TSC1 0.00 0 , TSC2 0.00 0 , TSEN15 0.00 0 , TSEN2 0.00 0 , TSEN34 0.00 0 , TSEN54 0.00 0 , TSFM 0.00 0 , TSPYL1 0.00 0 , TTC21B 0.00 0 , ODAD4 0.00 0 , SKIC3 0.00 0 , TTC7A 0.00 0 , TTC8 0.00 0 , TTC9 0.00 0 , TTI2 0.00 0 , TTN 0.00 0 , TUBA1A 0.00 0 , TUBA8 0.00 0 , TUBB 0.00 0 , TUBB2A 0.00 0 , TUBB2B 0.00 0 , TUBB3 0.00 0 , TUBB4A 0.00 0 , TUBG1 0.00 0 , TUBGCP4 0.00 0 , TUBGCP6 0.00 0 , TUFM 0.00 0 , TULP1 0.00 0 , TWIST1 0.00 0 , TWIST2 0.00 0 , TXNDC15 0.00 0 , TXNL4A 0.00 0 , TYR 0.00 0 , TYROBP 0.00 0 , UBA1 0.00 0 , UBB 0.00 0 , UBE2T 0.00 0 , UBE3A 0.00 0 , UBE3B 0.00 0 , UBR1 0.00 0 , UBTF 0.00 0 , UFD1 0.00 0 , UMOD 0.00 0 , UMPS 0.00 0 , UNC50 0.00 0 , UPF3B 0.00 0 , UPK3A 0.00 0 , UQCRB 0.00 0 , UQCRQ 0.00 0 , UROS 0.00 0 , USP18 0.00 0 , USP27X 0.00 0 , USP9X 0.00 0 , UTRN 0.00 0 , VAMP1 0.00 0 , VANGL1 0.00 0 , VANGL2 0.00 0 , VAX1 0.00 0 , VDR 0.00 0 , VEGFC 0.00 0 , VIPAS39 0.00 0 , VLDLR 0.00 0 , VMA21 0.00 0 , VPS13B 0.00 0 , VPS33B 0.00 0 , VPS53 0.00 0 , VRK1 0.00 0 , VSX2 0.00 0 , VTI1A 0.00 0 , VWA2 0.00 0 , WASHC5 0.00 0 , WBP11 0.00 0 , WDPCP 0.00 0 , WDR11 0.00 0 , WDR19 0.00 0 , WDR26 0.00 0 , DYNC2I2 0.00 0 , WDR35 0.00 0 , WDR4 0.00 0 , DYNC2I1 0.00 0 , WDR62 0.00 0 , WDR73 0.00 0 , WDR81 0.00 0 , WNT1 0.00 0 , WNT10B 0.00 0 , WNT3 0.00 0 , WNT4 0.00 0 , WNT5A 0.00 0 , WNT7A 0.00 0 , WRAP53 0.00 0 , WT1 0.00 0 , WWOX 0.00 0 , XRCC4 0.00 0 , XYLT1 0.00 0 , XYLT2 0.00 0 , YAP1 0.00 0 , YWHAG 0.00 0 , YY1 0.00 0 , ZBTB18 0.00 0 , ZBTB20 0.00 0 , ZC4H2 0.00 0 , ZDHHC9 0.00 0 , ZEB2 0.00 0 , ZFP57 0.00 0 , ZFPM2 0.00 0 , ZFYVE26 0.00 0 , ZIC1 0.00 0 , ZIC2 0.00 0 , ZIC3 0.00 0 , ZMPSTE24 0.00 0 , ZMYND10 0.00 0 , ZMYND11 0.00 0 , ZNF423 0.00 0 , ZNF462 0.00 0 , ZNF469 0.00 0 , ZNF750 0.00 0 , ZNRF3 0.00 0 , ZPR1 0.00 0 , ZSWIM6 0.00 0 , -
Congenital malformation gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABAT 100.00 0 No comment ABCC6 100.00 0 No comment ABCD1 99.93 0 No comment ABCD3 99.97 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACO2 100.00 0 No comment ACTA1 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment ADAR 100.00 0 No comment ADGRG1 100.00 0 No comment ADGRG6 100.00 0 No comment ADSL 100.00 0 No comment AHI1 100.00 0 No comment AIMP1 100.00 0 No comment AIPL1 100.00 0 No comment AIRE 99.88 0 No comment AKR1C2 99.98 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment ALDH1A3 99.83 0 No comment ALMS1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKRD11 100.00 0 No comment ANOS1 95.04 0 No comment ANTXR2 100.00 0 No comment AP4B1 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARVCF 100.00 0 No comment ARX 78.98 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 ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment B3GALNT2 85.88 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment B9D1 100.00 0 No comment B9D2 100.00 0 No comment BBIP1 100.00 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCOR 100.00 0 No comment BDNF 100.00 0 No comment BIN1 100.00 0 No comment BMP2 100.00 0 No comment BMP4 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRAF 96.97 0 No comment BRIP1 100.00 0 No comment BSND 100.00 0 No comment BUB1 100.00 0 No comment BUB1B 100.00 0 No comment BUB3 100.00 0 No comment C12ORF57 100.00 0 No comment CACNA1A 98.78 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC28B 100.00 0 No comment CCM2 99.98 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC6 100.00 0 No comment CDH1 98.08 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CDT1 87.95 0 No comment CENPF 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP57 100.00 0 No comment CFTR 99.91 0 No comment CHAT 100.00 0 No comment CHD7 100.00 0 No comment CHMP1A 100.00 0 No comment CHN1 99.56 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CHUK 99.76 0 No comment CKAP2L 100.00 0 No comment CNTN1 100.00 0 No comment COG4 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL18A1 97.80 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL5A1 98.16 0 No comment COL5A2 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COL7A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COLEC11 100.00 0 No comment COMT 100.00 0 No comment COX7B 99.88 0 No comment CPLANE1 100.00 0 No comment CPT2 98.71 0 No comment CRB1 100.00 0 No comment CREBBP 100.00 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CRX 100.00 0 No comment CSPP1 100.00 0 No comment CTCF 100.00 0 No comment CTNS 100.00 0 No comment CTSA 100.00 0 No comment CUL7 99.99 0 No comment CXCR4 100.00 0 No comment CYP11B1 100.00 0 No comment CYP17A1 100.00 0 No comment CYP19A1 100.00 0 No comment CYP21A2 100.00 0 No comment CYP2U1 93.04 0 No comment DARS1 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHH 99.75 0 No comment DHODH 100.00 0 No comment DIS3L2 100.00 0 No comment DKC1 100.00 0 No comment DLL3 78.42 0 No comment DLX5 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNM2 99.95 0 No comment DOCK6 99.12 0 No comment DOK7 98.77 0 No comment DPYD 100.00 0 No comment DSP 100.00 0 No comment DUSP6 100.00 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYNC2H1 100.00 0 No comment EARS2 100.00 0 No comment GLB1 100.00 0 No comment ECEL1 95.92 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EGR2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment EMD 99.84 0 No comment EMG1 100.00 0 No comment EMX2 100.00 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment EPG5 100.00 0 No comment EPHX1 100.00 0 No comment ERBB3 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC4 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EYA1 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FANCM 100.00 0 No comment FAT4 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF10 100.00 0 No comment FGF17 100.00 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKBP14 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FLRT3 100.00 0 No comment FLT4 98.20 0 No comment FLVCR2 100.00 0 No comment FOXC1 62.57 0 No comment FOXC2 72.63 0 No comment FOXE1 60.48 0 No comment FOXG1 85.88 0 No comment FRAS1 100.00 0 No comment FREM1 100.00 0 No comment FREM2 100.00 0 No comment FTO 100.00 0 No comment FUZ 100.00 0 No comment G6PC3 100.00 0 No comment GAA 100.00 0 No comment GATA1 100.00 0 No comment GATA4 80.69 0 No comment GATA6 81.11 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCSH 76.04 0 No comment GDF1 58.25 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJA1 100.00 0 No comment GJB2 98.23 0 No comment GJC2 81.91 0 No comment GLDC 96.53 0 No comment GLE1 100.00 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLUL 100.00 0 No comment GMPPB 100.00 0 No comment GNAI3 100.00 0 No comment GNAO1 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPI 100.00 0 No comment GPSM2 100.00 0 No comment GRHL3 100.00 0 No comment GRIP1 100.00 0 No comment GRM1 100.00 0 No comment GUCY2D 99.13 0 No comment GUSB 100.00 0 No comment H19 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HCCS 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HESX1 100.00 0 No comment HIBCH 100.00 0 No comment HIRA 99.90 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXA2 99.99 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HRAS 100.00 0 No comment HS6ST1 98.52 0 No comment HSD17B3 100.00 0 No comment HSD17B4 100.00 0 No comment HSPG2 99.43 0 No comment HYAL1 100.00 0 No comment HYLS1 100.00 0 No comment IBA57 87.89 0 No comment CILK1 100.00 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFIH1 100.00 0 No comment IFT172 100.00 0 No comment IFT27 100.00 0 No comment IFT80 100.00 0 No comment IFT88 99.71 0 No comment IGBP1 100.00 0 No comment IGHMBP2 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL10 100.00 0 No comment IL17RD 98.31 0 No comment IMPDH1 97.72 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQCB1 100.00 0 No comment IRF6 100.00 0 No comment ITGA6 100.00 0 No comment ITGA8 99.96 0 No comment ITGB4 98.41 0 No comment ITPR1 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNJ13 100.00 0 No comment KCNJ2 100.00 0 No comment KCNK9 100.00 0 No comment KCNQ1OT1 0.55 0 No comment KCNQ2 99.98 0 No comment KCNT1 99.74 0 No comment KCTD1 92.53 0 No comment KCTD7 97.35 0 No comment KDM6A 100.00 0 No comment KIF14 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KISS1R 94.58 0 No comment KMT2D 100.00 0 No comment KRAS 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 LCA5 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LHB 97.18 0 No comment LHX3 94.36 0 No comment LHX4 100.00 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMNB1 97.46 0 No comment LMX1B 99.99 0 No comment LRAT 100.00 0 No comment LRP2 99.96 0 No comment CORIN 98.90 0 No comment LZTFL1 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAP3K1 92.79 0 No comment MASP1 100.00 0 No comment MBTPS2 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MED12 99.96 0 No comment MEF2C 100.00 0 No comment MEGF10 100.00 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MFRP 100.00 0 No comment MGP 100.00 0 No comment MID1 100.00 0 No comment MIPOL1 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLH1 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MPL 100.00 0 No comment MPZ 100.00 0 No comment MRPS16 100.00 0 No comment MRPS22 100.00 0 No comment MSH2 100.00 0 No comment MSH6 100.00 0 No comment MSX1 97.41 0 No comment MSX2 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MVK 100.00 0 No comment MYBPC1 100.00 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH8 100.00 0 No comment MYOD1 98.47 0 No comment NAA10 96.03 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEB 99.99 0 No comment NECTIN1 100.00 0 No comment NEK1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIN 100.00 0 No comment NIPBL 99.98 0 No comment NKX2-5 100.00 0 No comment NMNAT1 100.00 0 No comment NODAL 99.99 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NPRL2 100.00 0 No comment NR0B1 100.00 0 No comment NR5A1 100.00 0 No comment NRAS 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NSMF 95.23 0 No comment NT5C2 100.00 0 No comment OBSL1 98.31 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OTX2 100.00 0 No comment PAFAH1B1 100.00 0 No comment PALB2 100.00 0 No comment PAX2 99.80 0 No comment PAX3 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PDE4D 98.77 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 PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDYN 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 PFKM 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PIP5K1C 95.60 0 No comment PITX1 98.27 0 No comment PKHD1 100.00 0 No comment PLCB4 100.00 0 No comment PLEC 99.82 0 No comment PLK4 100.00 0 No comment PLOD1 99.91 0 No comment PLOD3 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMP22 100.00 0 No comment PMS2 99.97 0 No comment PNKP 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment POLR3A 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 PORCN 100.00 0 No comment POU1F1 100.00 0 No comment PQBP1 100.00 0 No comment PRDM5 100.00 0 No comment PRG4 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PROKR2 100.00 0 No comment PROP1 100.00 0 No comment PRRX1 100.00 0 No comment PRSS56 98.00 0 No comment PRX 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTCH2 100.00 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTH1R 99.01 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB18 100.00 0 No comment RAB23 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RAPSN 100.00 0 No comment PRKRA 90.07 0 No comment RB1 99.04 0 No comment RBM10 100.00 0 No comment RBM8A 100.00 0 No comment RD3 100.00 0 No comment RDH12 100.00 0 No comment RECQL4 96.37 0 No comment RELN 99.96 0 No comment RET 98.13 0 No comment RIPK4 100.00 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPE65 100.00 0 No comment RPGRIP1 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL11 100.00 0 No comment RPL15 86.16 0 No comment RPL26 100.00 0 No comment RPL35A 100.00 0 No comment RPL5 99.37 0 No comment RPS10 100.00 0 No comment RPS17 98.70 0 No comment RPS19 100.00 0 No comment RPS24 100.00 0 No comment RPS26 100.00 0 No comment RPS6KA3 98.71 0 No comment RPS7 92.83 0 No comment RTTN 100.00 0 No comment RUNX2 98.51 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SC5D 100.00 0 No comment SCARF2 86.46 0 No comment SDCCAG8 100.00 0 No comment SEC23A 100.00 0 No comment SELENON 84.04 0 No comment SEMA3A 100.00 0 No comment SEMA3E 100.00 0 No comment SEPSECS 99.97 0 No comment SEPTIN9 100.00 0 No comment SETBP1 99.99 0 No comment SF3B4 100.00 0 No comment SH3PXD2B 99.68 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SIX1 100.00 0 No comment SIX3 99.59 0 No comment SIX5 88.67 0 No comment SIX6 100.00 0 No comment HHAT 90.28 0 No comment SLC12A1 100.00 0 No comment SLC12A6 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A19 100.00 0 No comment SLC26A2 99.96 0 No comment SLC2A10 98.97 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 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 SMOC1 99.36 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 SOX3 85.62 0 No comment SOX9 97.88 0 No comment SPATA7 100.00 0 No comment SPECC1L 100.00 0 No comment SPG11 100.00 0 No comment SPRED1 100.00 0 No comment SPRY4 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A2 100.00 0 No comment SRD5A3 99.42 0 No comment SRY 39.13 0 No comment STAC3 100.00 0 No comment STAMBP 100.00 0 No comment STAT3 100.00 0 No comment STS 100.00 0 No comment STXBP1 100.00 0 No comment SUFU 100.00 0 No comment SUMO1 99.91 0 No comment SYNE1 100.00 0 No comment TACR3 100.00 0 No comment TAF2 100.00 0 No comment WWTR1 99.81 0 No comment TBC1D20 93.59 0 No comment TBX1 77.39 0 No comment TBX15 100.00 0 No comment TBX22 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXT 100.00 0 No comment TCF4 100.00 0 No comment TCOF1 99.99 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TECPR2 100.00 0 No comment TFAP2A 100.00 0 No comment TGFB3 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TMCO1 100.00 0 No comment TMEM138 100.00 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 TNNI2 100.00 0 No comment TNNT3 100.00 0 No comment TNXB 100.00 0 No comment TP63 100.00 0 No comment TPM2 100.00 0 No comment TRAPPC9 99.98 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRIM32 100.00 0 No comment TRIP11 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TSPYL1 100.00 0 No comment TTC8 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TULP1 100.00 0 No comment TWIST1 70.93 0 No comment TYR 100.00 0 No comment TYROBP 100.00 0 No comment UBA1 100.00 0 No comment UBB 100.00 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UFD1 100.00 0 No comment UPF3B 100.00 0 No comment UPK3A 99.39 0 No comment UTRN 100.00 0 No comment VANGL1 100.00 0 No comment VANGL2 100.00 0 No comment VAX1 89.49 0 No comment VIPAS39 100.00 0 No comment VPS13B 99.25 0 No comment VPS33B 100.00 0 No comment VSX2 100.00 0 No comment VTI1A 100.00 0 No comment WASHC5 100.00 0 No comment WDPCP 100.00 0 No comment WDR11 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment DYNC2I1 99.86 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT4 92.22 0 No comment WNT5A 99.97 0 No comment WNT7A 100.00 0 No comment WT1 96.46 0 No comment WWOX 100.00 0 No comment ZBTB18 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFPM2 99.96 0 No comment ZFYVE26 100.00 0 No comment ZIC1 100.00 0 No comment ZIC2 80.54 0 No comment ZMPSTE24 100.00 0 No comment ZNF423 100.00 0 No comment ZNF469 99.70 0 No comment -
Glaucoma - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADAMTS10 99.99 1 ADAMTS17 99.99 1 B3GLCT 99.90 1 BEST1 99.86 1 COL18A1 99.99 1 COL4A1 99.99 1 CPAMD8 99.97 1 CREBBP 99.97 1 CYP1B1 100.00 1 RIGI 99.84 1 FBN1 99.85 1 FOXC1 100.00 1 FOXD3 99.85 1 FOXE3 99.29 1 GJA1 100.00 1 IFIH1 99.84 1 LMX1B 100.00 1 LTBP2 99.97 1 MYOC 99.98 1 NTF4 100.00 1 OCRL 99.89 1 OPTN 99.98 1 PAX6 99.95 1 PITX2 99.98 1 PITX3 100.00 1 SBF2 99.77 1 SH3PXD2B 100.00 1 TBK1 99.07 1 TEK 99.98 1 WDR36 99.46 1 ASB1 99.98 1 -
Hereditary spastic paraplegia (188 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 97.56 1 ABHD12 88.30 1 ADAR 100.00 1 AFG3L2 94.80 1 AIMP1 99.97 1 ALDH18A1 100.00 1 ALDH3A2 99.94 1 ALS2 100.00 1 AMPD2 99.90 1 ANG 100.00 1 AP4B1 100.00 1 AP4E1 99.99 1 AP4M1 100.00 1 AP4S1 100.00 1 AP5Z1 99.25 1 ARG1 100.00 1 ARL6IP1 100.00 1 ARSI 99.82 1 ASPA 100.00 1 ATAD3A 97.50 1 ATL1 99.89 1 ATP13A2 98.30 1 AUH 99.24 1 B4GALNT1 99.99 1 BICD2 100.00 1 BSCL2 100.00 1 BTD 100.00 1 MTRFR 100.00 1 C19ORF12 100.00 1 CAPN1 99.97 1 CCT5 99.92 1 CDK16 99.96 1 CLN8 100.00 1 COASY 100.00 1 CPT1C 100.00 1 CSF1R 99.99 1 CTNNB1 100.00 1 CYP27A1 99.38 1 CYP2U1 93.20 1 CYP7B1 100.00 1 DARS1 100.00 1 DARS2 100.00 1 DDHD1 99.58 1 DDHD2 100.00 1 DSTYK 100.00 1 ELOVL4 100.00 1 ENTPD1 100.00 1 ERCC2 98.91 1 ERLIN1 100.00 1 ERLIN2 100.00 1 EXOSC3 100.00 1 FA2H 95.71 1 HYCC1 100.00 1 RETREG1 100.00 1 FARS2 100.00 1 FBXO7 99.78 1 FIG4 100.00 1 FLRT1 100.00 1 FRMD7 99.98 1 FUS 100.00 1 FXN 100.00 1 GAD1 100.00 1 GALC 98.98 1 GAN 98.52 1 GARS1 97.89 1 GART 99.99 1 GBA1 100.00 1 GBA2 100.00 1 GBE1 100.00 1 GCH1 99.71 1 GFAP 100.00 1 GJA1 100.00 1 GJC2 96.72 1 GLB1 100.00 1 GLRX5 100.00 1 GLTP 100.00 1 GPR143 89.09 1 GSN 97.80 1 HACE1 98.41 1 HEPACAM 99.85 1 HEXA 100.00 1 HSD17B4 100.00 1 HSPD1 100.00 1 IBA57 92.01 1 IFIH1 100.00 1 IRF2BPL 97.56 1 KCNJ6 100.00 1 KCNMA1 99.93 1 KDM5C 99.97 1 WASHC5 100.00 1 NEXMIF 100.00 1 KIDINS220 100.00 1 KIF1A 98.74 1 KIF1C 100.00 1 KIF5A 100.00 1 KLC2 100.00 1 KLC4 99.99 1 L1CAM 99.98 1 L2HGDH 99.75 1 LAMB1 100.00 1 LYST 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MFN2 100.00 1 MLC1 98.57 1 MTPAP 99.98 1 NANS 100.00 1 NEFL 100.00 1 NIPA1 92.99 1 NKX6-2 100.00 1 NT5C2 100.00 1 OCLN 100.00 1 MED12 99.98 1 OPA3 100.00 1 OPTN 100.00 1 PANK2 100.00 1 PDYN 100.00 1 PGAP1 100.00 1 PLA2G6 100.00 1 PLP1 100.00 1 PNPLA6 99.95 1 POLR3A 100.00 1 POLR3B 100.00 1 PPP2R2B 100.00 1 PRUNE1 100.00 1 PSEN1 100.00 1 PUM1 100.00 1 RAB18 99.99 1 RAB3GAP1 100.00 1 RAB3GAP2 100.00 1 RARS1 99.99 1 REEP1 100.00 1 REEP2 97.04 1 RNASEH2A 100.00 1 RNASEH2B 94.58 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RTN2 99.44 1 SACS 99.95 1 SAMD9L 100.00 1 SAMHD1 100.00 1 SERAC1 100.00 1 SETX 100.00 1 SIL1 99.95 1 SLC16A2 99.97 1 SLC25A15 100.00 1 SLC25A46 100.00 1 SLC2A1 100.00 1 SLC33A1 100.00 1 SLC39A14 99.94 1 SMPD1 100.00 1 SOD1 100.00 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 100.00 1 SPART 100.00 1 SPG21 100.00 1 SPG7 95.78 1 SPR 99.98 1 SUN1 100.00 1 SYNE1 100.00 1 TANGO2 99.94 1 TARDBP 99.43 1 TBC1D20 95.06 1 TECPR2 99.92 1 TFG 99.98 1 TGM6 100.00 1 TH 98.79 1 TRPV4 100.00 1 TTBK2 100.00 1 TUBB4A 100.00 1 TUBG1 100.00 1 UBQLN2 99.30 1 UCHL1 99.66 1 USP8 100.00 1 VAMP1 100.00 1 VAPB 99.77 1 VCP 97.10 1 VPS13B 100.00 1 VPS37A 99.28 1 WDR45 100.00 1 WDR45B 99.94 1 WDR48 100.00 1 ZC4H2 100.00 1 ZFR 100.00 1 ZFYVE26 100.00 1 ZFYVE27 100.00 1 -
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 -
Intellectual disability (gene panel)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 97.92 0 No comment AAAS 98.73 0 No comment AARS1 98.82 0 No comment AASS 98.51 0 No comment ABAT 99.40 0 No comment ABCB11 98.30 0 No comment ABCB7 94.65 0 No comment ABCC6 99.58 0 No comment ABCC8 99.33 0 No comment ABCC9 99.05 0 No comment ABCD1 97.12 0 No comment ABCD4 98.90 0 No comment ABCG5 99.05 0 No comment ABHD12 89.63 0 No comment ABHD5 97.97 0 No comment ACAD9 99.34 0 No comment ACADM 97.15 0 No comment ACADS 99.06 0 No comment ACADSB 96.29 0 No comment ACADVL 98.55 0 No comment ACAN 98.12 0 No comment ACAT1 97.08 0 No comment ACBD6 99.00 0 No comment ACE2 97.24 0 No comment ACIN1 99.19 0 No comment ACO2 98.76 0 No comment ACOT9 97.29 0 No comment ACOX1 98.24 0 No comment ACP5 98.80 0 No comment ACSF3 99.18 0 No comment ACSL4 91.66 0 No comment ACTA2 99.56 0 No comment ACTB 99.87 0 No comment ACTG1 99.91 0 No comment ACTL6A 99.12 0 No comment ACTL6B 98.82 0 No comment ACVR1 99.30 0 No comment ACY1 99.53 0 No comment ADA 98.79 0 No comment ADAM22 97.86 0 No comment ADAMTS10 99.11 0 No comment ADAR 99.42 0 No comment ADARB1 93.73 0 No comment ADAT3 98.92 0 No comment COQ8A 99.33 0 No comment ADCY5 95.67 0 No comment ADD3 99.21 0 No comment ADK 98.15 0 No comment ADNP 99.77 0 No comment ADPRS 96.99 0 No comment ADRA2B 99.24 0 No comment ADSL 99.02 0 No comment AFF2 96.88 0 No comment AFF3 99.12 0 No comment AFF4 99.25 0 No comment AFG3L2 96.83 0 No comment AFP 98.35 0 No comment AGA 99.31 0 No comment AGK 99.23 0 No comment AGL 98.86 0 No comment AGMO 98.98 0 No comment AGO1 99.33 0 No comment AGPAT2 95.70 0 No comment AGPS 96.48 0 No comment AGT 99.43 0 No comment AGTR2 99.44 0 No comment AGXT 99.20 0 No comment AHCY 99.37 0 No comment AHDC1 99.43 0 No comment AHI1 98.72 0 No comment AIFM1 96.67 0 No comment AIMP1 96.59 0 No comment AIMP2 99.14 0 No comment AIPL1 99.50 0 No comment AIRE 97.18 0 No comment AK1 99.47 0 No comment AK2 98.26 0 No comment AKAP17A 96.52 0 No comment AKAP4 99.11 0 No comment AKAP6 99.28 0 No comment AKR1C2 99.87 0 No comment AKR1D1 99.35 0 No comment AKT1 99.32 0 No comment AKT3 97.83 0 No comment ALAD 99.59 0 No comment ALDH18A1 99.49 0 No comment ALDH1A3 96.21 0 No comment ALDH3A2 98.54 0 No comment ALDH4A1 98.01 0 No comment ALDH5A1 96.17 0 No comment ALDH7A1 98.33 0 No comment ALDOA 99.58 0 No comment ALDOB 99.46 0 No comment ALG1 99.07 0 No comment ALG11 99.81 0 No comment ALG12 99.70 0 No comment ALG13 91.46 0 No comment ALG14 98.86 0 No comment ALG2 99.56 0 No comment ALG3 98.85 0 No comment ALG6 98.37 0 No comment ALG8 99.11 0 No comment ALG9 98.84 0 No comment ALKBH8 98.86 0 No comment ALMS1 99.15 0 No comment ALPL 99.07 0 No comment ALS2 98.98 0 No comment ALX1 99.69 0 No comment ALX3 96.22 0 No comment ALX4 99.35 0 No comment AMER1 99.70 0 No comment AMPD2 99.08 0 No comment AMT 99.79 0 No comment ANK3 99.57 0 No comment ANKH 99.15 0 No comment ANKRD11 97.84 0 No comment ANO10 98.75 0 No comment ANO3 99.47 0 No comment ANO5 99.01 0 No comment ANTXR1 94.84 0 No comment AP1B1 99.25 0 No comment AP1S1 95.66 0 No comment AP1S2 85.55 0 No comment AP2M1 98.28 0 No comment AP3B1 98.71 0 No comment AP3B2 98.28 0 No comment AP4B1 99.39 0 No comment AP4E1 98.53 0 No comment AP4M1 99.53 0 No comment AP4S1 99.30 0 No comment AP5Z1 98.97 0 No comment APC2 94.47 0 No comment COA8 95.39 0 No comment APTX 98.38 0 No comment AQP7 99.87 0 No comment AR 95.56 0 No comment ARCN1 96.22 0 No comment ARFGEF2 98.65 0 No comment ARG1 99.07 0 No comment ARHGAP31 99.50 0 No comment ARHGAP36 98.64 0 No comment ARHGAP6 95.05 0 No comment ARHGEF2 98.52 0 No comment ARHGEF4 99.40 0 No comment ARHGEF6 94.23 0 No comment ARHGEF9 96.24 0 No comment ARID1A 97.52 0 No comment ARID1B 95.00 0 No comment ARID2 99.53 0 No comment ARIH1 98.86 0 No comment ARL13B 97.87 0 No comment ARL14EP 97.37 0 No comment ARL6 98.82 0 No comment ODAD2 98.89 0 No comment ARMC9 98.71 0 No comment ARSA 99.35 0 No comment ARSB 96.85 0 No comment ARSL 94.37 0 No comment ARSF 93.30 0 No comment ARV1 99.17 0 No comment ARX 75.98 0 No comment ASAH1 98.03 0 No comment ASB12 96.10 0 No comment ASCC3 98.81 0 No comment ASCL1 98.32 0 No comment ASH1L 99.56 0 No comment ASL 98.41 0 No comment ASMT 92.35 0 No comment ASMTL 99.94 0 No comment ASNS 99.40 0 No comment ASPA 98.77 0 No comment ASPH 98.90 0 No comment ASPM 99.12 0 No comment ASS1 99.61 0 No comment ASTN1 99.12 0 No comment ASXL1 99.32 0 No comment ASXL2 94.54 0 No comment ASXL3 98.97 0 No comment ATAD1 95.52 0 No comment ATAD3A 98.34 0 No comment ATCAY 99.48 0 No comment ATIC 98.97 0 No comment ATL1 96.64 0 No comment ATM 98.13 0 No comment ATN1 98.73 0 No comment ATP13A2 99.25 0 No comment ATP1A1 98.42 0 No comment ATP1A2 98.77 0 No comment ATP1A3 99.51 0 No comment ATP2A2 98.83 0 No comment ATP2B3 97.71 0 No comment ATP6AP1 96.58 0 No comment ATP6AP2 93.72 0 No comment ATP6V0A2 99.30 0 No comment ATP6V1A 97.97 0 No comment ATP6V1B1 98.05 0 No comment ATP6V1B2 98.55 0 No comment ATP7A 96.22 0 No comment ATP7B 99.52 0 No comment ATP8A2 99.53 0 No comment ATP8B1 98.96 0 No comment ATR 98.89 0 No comment ATRX 95.60 0 No comment ATXN1 99.33 0 No comment ATXN10 98.33 0 No comment ATXN2 91.35 0 No comment ATXN3 98.93 0 No comment ATXN3L 99.08 0 No comment ATXN7 95.21 0 No comment AUH 99.00 0 No comment AUTS2 98.29 0 No comment AVP 86.48 0 No comment AVPR2 99.55 0 No comment AWAT2 98.86 0 No comment B3GALNT2 96.88 0 No comment B3GALT6 74.99 0 No comment B3GLCT 95.44 0 No comment B4GALNT1 98.73 0 No comment B4GALT1 97.25 0 No comment B4GALT7 93.89 0 No comment B9D1 98.92 0 No comment BBS1 99.26 0 No comment BBS10 99.67 0 No comment BBS12 99.69 0 No comment BBS2 98.90 0 No comment BBS4 98.91 0 No comment BBS5 98.35 0 No comment BBS7 99.11 0 No comment BBS9 98.84 0 No comment BCAP31 92.90 0 No comment BCKDHA 99.19 0 No comment BCKDHB 99.14 0 No comment BCKDK 98.03 0 No comment BCL11A 99.29 0 No comment BCL11B 95.65 0 No comment BCOR 98.20 0 No comment BCORL1 98.79 0 No comment BCS1L 99.07 0 No comment BDP1 99.48 0 No comment BEAN1 99.42 0 No comment BFSP2 99.16 0 No comment BGN 97.15 0 No comment BHLHA9 83.99 0 No comment BICD2 99.34 0 No comment BIN1 99.27 0 No comment BLM 97.69 0 No comment BMP15 94.45 0 No comment BMP4 99.03 0 No comment BMPER 99.17 0 No comment BMPR1B 99.45 0 No comment BOLA3 98.55 0 No comment BPIFB6 98.75 0 No comment BPTF 96.21 0 No comment BRAF 97.62 0 No comment BRAT1 98.61 0 No comment BRCA1 99.65 0 No comment BRCA2 98.74 0 No comment BRD4 90.53 0 No comment BRF1 97.49 0 No comment BRIP1 98.87 0 No comment BRPF1 99.09 0 No comment BRSK2 97.89 0 No comment BRWD3 96.19 0 No comment BSCL2 99.32 0 No comment BSND 99.48 0 No comment BTD 99.63 0 No comment BTK 96.82 0 No comment BUB1B 98.89 0 No comment C12ORF4 98.72 0 No comment C12ORF57 99.66 0 No comment MTRFR 98.21 0 No comment CCDC32 98.00 0 No comment VPS35L 98.65 0 No comment C19ORF12 98.79 0 No comment C2CD3 98.92 0 No comment PCARE 98.64 0 No comment DIPK2A 99.10 0 No comment ODAPH 99.74 0 No comment CPLANE1 98.94 0 No comment CFAP418 98.78 0 No comment C9ORF72 98.10 0 No comment CA2 99.35 0 No comment CA5A 99.23 0 No comment CA8 99.30 0 No comment CACNA1A 98.14 0 No comment CACNA1B 96.02 0 No comment CACNA1C 99.14 0 No comment CACNA1D 99.31 0 No comment CACNA1E 99.29 0 No comment CACNA1F 97.17 0 No comment CACNA1G 99.06 0 No comment CACNA1H 98.12 0 No comment CACNA1S 98.76 0 No comment CACNA2D2 95.24 0 No comment CACNA2D3 98.17 0 No comment CACNB4 99.35 0 No comment CACNG2 99.57 0 No comment CAD 99.05 0 No comment CAMK2A 99.63 0 No comment CAMK2B 97.56 0 No comment CAMK2G 96.97 0 No comment CAMTA1 99.08 0 No comment CANT1 98.12 0 No comment CAP1 99.44 0 No comment CAPN10 99.27 0 No comment CAPRIN1 99.09 0 No comment CAPZA2 96.21 0 No comment CARS1 99.79 0 No comment CARS2 96.59 0 No comment KNL1 96.88 0 No comment CASK 95.86 0 No comment CASP2 99.05 0 No comment CASR 99.36 0 No comment CBL 98.79 0 No comment CBS 99.88 0 No comment CC2D1A 98.90 0 No comment CC2D2A 98.66 0 No comment CCBE1 98.76 0 No comment CCDC103 99.47 0 No comment ODAD1 99.10 0 No comment CCDC115 99.59 0 No comment CCDC22 97.58 0 No comment SVBP 99.76 0 No comment CCDC39 98.58 0 No comment CCDC40 98.68 0 No comment CEP83 98.29 0 No comment CCDC47 98.08 0 No comment CCDC65 99.18 0 No comment CCDC78 99.72 0 No comment CCDC8 99.54 0 No comment CCDC88A 98.66 0 No comment CCDC88C 99.06 0 No comment CCNA2 99.24 0 No comment CCNB3 99.08 0 No comment CCND2 98.80 0 No comment CCNO 99.50 0 No comment CCT5 98.48 0 No comment CD96 98.95 0 No comment CD99 99.96 0 No comment CDC42 98.38 0 No comment CDC42BPB 99.25 0 No comment CDC45 99.38 0 No comment CDC6 98.74 0 No comment CDH11 99.46 0 No comment CDH15 99.37 0 No comment CDH2 99.12 0 No comment CDH23 98.80 0 No comment CDH3 99.16 0 No comment CDK10 99.78 0 No comment CDK13 95.98 0 No comment CDK16 98.07 0 No comment CDK19 99.08 0 No comment CDK5R1 99.67 0 No comment CDK5RAP2 99.35 0 No comment CDK8 96.11 0 No comment CDKL5 93.83 0 No comment CDKN1C 86.67 0 No comment CDON 98.33 0 No comment CDT1 91.10 0 No comment CENPF 98.91 0 No comment CENPJ 99.50 0 No comment CEP104 99.17 0 No comment CEP135 96.95 0 No comment CEP152 98.51 0 No comment CEP290 98.38 0 No comment CEP41 98.54 0 No comment CEP55 99.06 0 No comment CEP57 98.39 0 No comment CEP63 98.63 0 No comment CFP 97.99 0 No comment CHAMP1 99.90 0 No comment CHD2 98.65 0 No comment CHD3 98.02 0 No comment CHD4 99.40 0 No comment CHD7 99.13 0 No comment CHD8 99.13 0 No comment CHKB 97.91 0 No comment DDX11 98.90 0 No comment CHM 89.56 0 No comment CHMP1A 98.78 0 No comment CHRDL1 97.84 0 No comment CHRNA2 99.41 0 No comment CHRNA4 98.72 0 No comment CHRNB2 99.57 0 No comment CHRNG 99.02 0 No comment CHST14 98.06 0 No comment CHST3 99.63 0 No comment CHSY1 93.60 0 No comment CHUK 98.09 0 No comment CIB2 98.54 0 No comment CIC 98.17 0 No comment CISD2 97.44 0 No comment CIT 99.14 0 No comment CKAP2L 99.24 0 No comment CLCN2 99.53 0 No comment CLCN4 98.32 0 No comment CLCN5 98.19 0 No comment CLCN7 97.43 0 No comment CLCNKA 99.53 0 No comment CLCNKB 99.55 0 No comment CLDN19 98.68 0 No comment CLIC2 95.82 0 No comment CLN3 99.63 0 No comment CLN5 98.95 0 No comment CLN6 94.08 0 No comment CLN8 99.98 0 No comment CLP1 99.53 0 No comment CLPB 98.72 0 No comment CLPP 98.67 0 No comment CLTC 98.69 0 No comment CMC4 96.87 0 No comment CNKSR1 99.49 0 No comment CNKSR2 95.65 0 No comment CNNM2 99.22 0 No comment CNOT1 98.98 0 No comment CNOT2 99.08 0 No comment CNOT3 98.24 0 No comment CNTN3 99.26 0 No comment CNTN4 99.15 0 No comment CNTNAP2 99.12 0 No comment COA3 99.34 0 No comment COA5 99.73 0 No comment COASY 98.90 0 No comment COG1 99.22 0 No comment COG4 99.26 0 No comment COG5 98.95 0 No comment COG6 98.53 0 No comment COG7 99.10 0 No comment COG8 99.58 0 No comment COL10A1 98.73 0 No comment COL11A1 99.16 0 No comment COL11A2 99.40 0 No comment COL18A1 98.80 0 No comment COL1A1 98.56 0 No comment COL1A2 99.53 0 No comment COL25A1 99.68 0 No comment COL2A1 99.63 0 No comment COL4A1 98.90 0 No comment COL4A2 98.81 0 No comment COL4A3 98.60 0 No comment CERT1 98.80 0 No comment COL4A4 99.18 0 No comment COL4A6 96.60 0 No comment COL6A1 99.30 0 No comment COL6A3 99.58 0 No comment COL9A1 99.37 0 No comment COL9A2 99.12 0 No comment COL9A3 95.16 0 No comment COLEC10 98.66 0 No comment COLEC11 99.77 0 No comment COMP 99.30 0 No comment COQ2 97.65 0 No comment COQ4 98.65 0 No comment COQ5 98.41 0 No comment COQ9 98.96 0 No comment COX10 99.59 0 No comment COX14 97.55 0 No comment COX15 99.27 0 No comment COX6B1 99.22 0 No comment COX7B 98.33 0 No comment CP 98.56 0 No comment CPA6 99.18 0 No comment HOMER2 98.16 0 No comment CPS1 99.26 0 No comment CPXCR1 98.61 0 No comment CRADD 98.71 0 No comment CRB1 99.41 0 No comment CRB2 98.33 0 No comment CRBN 99.00 0 No comment CREBBP 99.20 0 No comment CRLF2 96.34 0 No comment CRX 99.30 0 No comment CRYAA 99.93 0 No comment CRYBA1 99.47 0 No comment CRYBA4 99.30 0 No comment CRYBB1 99.71 0 No comment CRYBB2 99.21 0 No comment CRYBB3 97.71 0 No comment CRYGC 99.70 0 No comment CRYGD 99.70 0 No comment CSDE1 99.37 0 No comment CSF1R 98.97 0 No comment CSF2RA 88.66 0 No comment CSNK1G1 98.84 0 No comment CSNK2A1 99.27 0 No comment CSNK2B 99.56 0 No comment CSPP1 98.55 0 No comment CSTB 99.72 0 No comment CSTF2 95.94 0 No comment CTBP1 96.89 0 No comment CTC1 99.15 0 No comment CTCF 98.88 0 No comment CTDP1 96.55 0 No comment CCN2 97.14 0 No comment CTNNA2 98.80 0 No comment CTNNB1 99.57 0 No comment CTNND2 94.20 0 No comment CTNS 99.36 0 No comment CTPS2 96.99 0 No comment CTSA 99.45 0 No comment CTSD 99.18 0 No comment CTSF 96.71 0 No comment CTSK 99.73 0 No comment CTTNBP2 99.25 0 No comment CTU2 98.59 0 No comment CUL3 98.83 0 No comment CUL4B 92.06 0 No comment CUL7 99.50 0 No comment CUX1 96.61 0 No comment CUX2 98.80 0 No comment CWC27 97.65 0 No comment CWF19L1 98.83 0 No comment CFAP47 93.78 0 No comment STEEP1 92.87 0 No comment CXorf58 94.93 0 No comment CYB5R3 97.94 0 No comment CYC1 91.11 0 No comment CYFIP2 98.67 0 No comment CYP1B1 99.46 0 No comment CYP27A1 99.02 0 No comment CYP2U1 96.42 0 No comment CYP7B1 97.88 0 No comment D2HGDH 99.43 0 No comment DAB1 98.49 0 No comment DACT1 97.23 0 No comment DAG1 99.84 0 No comment DARS1 97.83 0 No comment DARS2 98.51 0 No comment DBT 98.43 0 No comment DCAF17 98.20 0 No comment DCC 99.25 0 No comment DCHS1 99.42 0 No comment DCHS2 96.72 0 No comment DCPS 99.51 0 No comment DCTN1 99.19 0 No comment DCX 97.69 0 No comment DDB2 99.44 0 No comment DDC 98.92 0 No comment DDHD1 98.96 0 No comment DDHD2 97.51 0 No comment DDOST 99.21 0 No comment DDR2 98.02 0 No comment INTS6L 94.69 0 No comment DDX3X 94.86 0 No comment DDX53 99.21 0 No comment RIGI 98.54 0 No comment DDX59 98.74 0 No comment DDX6 99.28 0 No comment DEAF1 94.52 0 No comment DECR1 98.30 0 No comment DEGS1 98.48 0 No comment DENND5A 98.76 0 No comment DEPDC5 98.88 0 No comment DGKH 97.01 0 No comment DHCR24 99.02 0 No comment DHCR7 99.47 0 No comment DHDDS 97.02 0 No comment DHFR 96.94 0 No comment DHODH 99.05 0 No comment DHPS 98.61 0 No comment DHRSX 91.20 0 No comment DHTKD1 98.94 0 No comment DHX30 98.83 0 No comment DIAPH1 91.23 0 No comment DIAPH2 87.29 0 No comment DIP2B 98.90 0 No comment DIS3L2 98.91 0 No comment DKC1 93.86 0 No comment DLAT 98.39 0 No comment DLD 98.88 0 No comment DLG1 98.14 0 No comment DLG2 99.29 0 No comment DLG3 97.25 0 No comment DLG4 99.13 0 No comment DLGAP2 99.74 0 No comment DLL3 86.64 0 No comment DLL4 99.36 0 No comment DMD 96.45 0 No comment DMP1 99.65 0 No comment DMPK 99.32 0 No comment DMXL2 98.36 0 No comment DNA2 98.22 0 No comment DNAAF3 98.65 0 No comment DNAJC12 99.66 0 No comment DNAJC19 96.91 0 No comment DNAJC3 96.14 0 No comment DNM1 97.82 0 No comment DNM1L 98.63 0 No comment DNM2 98.34 0 No comment DNMT1 98.21 0 No comment DNMT3A 99.20 0 No comment DNMT3B 99.29 0 No comment DOCK11 92.03 0 No comment DOCK3 98.52 0 No comment DOCK6 99.05 0 No comment DOCK7 98.51 0 No comment DOCK8 99.20 0 No comment DOLK 99.80 0 No comment DONSON 96.21 0 No comment DPAGT1 99.38 0 No comment DPF1 98.48 0 No comment DPF2 99.34 0 No comment DPF3 99.50 0 No comment DPH1 99.38 0 No comment DPM1 99.42 0 No comment DPM2 99.20 0 No comment DPM3 99.69 0 No comment DPP6 92.06 0 No comment DPYD 99.12 0 No comment DRD2 99.36 0 No comment DSCAM 98.89 0 No comment VPS26C 99.43 0 No comment DSPP 98.82 0 No comment DST 98.99 0 No comment DSTYK 99.35 0 No comment DVL1 99.68 0 No comment DVL3 98.80 0 No comment DYM 97.55 0 No comment DYNC1H1 99.37 0 No comment DYNC1I2 98.87 0 No comment DYNC2H1 97.67 0 No comment DYRK1A 99.47 0 No comment DNAAF4 98.09 0 No comment EBF3 99.40 0 No comment EBP 98.55 0 No comment ECEL1 97.04 0 No comment EDA 97.49 0 No comment EDNRA 99.24 0 No comment EDNRB 98.60 0 No comment EED 97.73 0 No comment EEF1A2 92.77 0 No comment EEF1B2 97.60 0 No comment EFHC1 98.17 0 No comment EFNB1 98.53 0 No comment EFTUD2 98.05 0 No comment EGR2 99.61 0 No comment EHMT1 98.17 0 No comment EIF2A 97.83 0 No comment EIF2AK1 98.91 0 No comment EIF2AK3 97.90 0 No comment EIF2S3 97.86 0 No comment EIF3F 99.59 0 No comment EIF4A3 99.56 0 No comment EIF4G1 99.24 0 No comment ELAC2 99.51 0 No comment ELK1 98.30 0 No comment ELN 99.54 0 No comment ELOVL4 99.51 0 No comment ELOVL5 98.85 0 No comment ELP2 99.00 0 No comment EMC1 99.43 0 No comment EMG1 99.17 0 No comment EML1 98.84 0 No comment EMX2 99.75 0 No comment EN2 95.92 0 No comment ENOX2 95.88 0 No comment ENPP1 95.08 0 No comment TEPSIN 99.67 0 No comment ENTPD1 97.83 0 No comment EOGT 90.07 0 No comment EOMES 99.11 0 No comment EP300 99.21 0 No comment EPB41L1 99.19 0 No comment EPG5 98.98 0 No comment EPM2A 91.75 0 No comment EPPK1 99.37 0 No comment SELENOI 98.64 0 No comment ERCC1 97.35 0 No comment ERCC2 98.26 0 No comment ERCC3 99.57 0 No comment ERCC4 99.08 0 No comment ERCC5 99.17 0 No comment ERCC6 99.25 0 No comment ERCC6L2 98.36 0 No comment ERCC8 99.23 0 No comment ERF 99.27 0 No comment ERLIN2 99.21 0 No comment ERMARD 99.76 0 No comment ESCO2 97.40 0 No comment ESX1 96.03 0 No comment ETFA 97.87 0 No comment ETFB 99.51 0 No comment ETFDH 97.92 0 No comment ETHE1 98.75 0 No comment EVC 94.14 0 No comment EVC2 97.83 0 No comment EXOSC3 98.97 0 No comment EXOSC8 98.32 0 No comment EXT1 99.14 0 No comment EXT2 99.43 0 No comment EXTL3 99.80 0 No comment EYA1 99.11 0 No comment EZH2 96.67 0 No comment F5 99.15 0 No comment FA2H 97.25 0 No comment FAAH2 92.70 0 No comment FAH 96.88 0 No comment OTULIN 89.08 0 No comment FAM111A 99.59 0 No comment FAM111B 99.76 0 No comment FAM120C 96.47 0 No comment HYCC1 99.23 0 No comment RETREG1 97.37 0 No comment FHIP2A 97.70 0 No comment FAM161A 99.42 0 No comment FAM20A 94.00 0 No comment FAM20C 96.33 0 No comment FAM47B 99.81 0 No comment CCNQ 84.67 0 No comment FANCA 98.47 0 No comment FANCB 97.15 0 No comment FANCC 99.30 0 No comment FANCD2 99.02 0 No comment FANCE 95.74 0 No comment FANCF 99.29 0 No comment FANCG 98.43 0 No comment FANCI 98.29 0 No comment FAR1 97.96 0 No comment FARS2 99.13 0 No comment FASN 99.66 0 No comment FAT4 99.73 0 No comment FBLN5 97.72 0 No comment FBN1 99.18 0 No comment FBN2 99.13 0 No comment FBP1 99.54 0 No comment FBXL3 98.89 0 No comment FBXL4 99.22 0 No comment FBXO11 98.18 0 No comment FBXO25 98.32 0 No comment FBXO7 99.44 0 No comment FBXO8 99.00 0 No comment FBXW11 98.85 0 No comment FBXW4 98.88 0 No comment FDFT1 96.29 0 No comment FDXR 99.16 0 No comment FEM1B 98.39 0 No comment FGD1 95.65 0 No comment FGD4 97.87 0 No comment FGF10 98.79 0 No comment FGF12 99.23 0 No comment FGF14 99.47 0 No comment FGF3 95.52 0 No comment FGFR1 99.06 0 No comment FGFR2 99.55 0 No comment FGFR3 98.01 0 No comment FH 98.88 0 No comment FHL1 98.74 0 No comment FIBP 99.40 0 No comment FIG4 98.99 0 No comment FKBP14 98.92 0 No comment FKBP6 99.52 0 No comment FKBPL 99.97 0 No comment FKRP 97.44 0 No comment FKTN 98.78 0 No comment FLAD1 99.48 0 No comment FLNA 98.47 0 No comment FLNB 98.87 0 No comment FLT4 98.94 0 No comment FLVCR1 98.36 0 No comment FLVCR2 99.65 0 No comment FMN2 96.08 0 No comment FMR1 96.13 0 No comment FOLR1 99.56 0 No comment FOXC1 91.49 0 No comment FOXC2 93.24 0 No comment FOXE1 88.43 0 No comment FOXE3 70.11 0 No comment FOXF1 98.60 0 No comment FOXG1 78.93 0 No comment FOXN1 99.64 0 No comment FOXP1 98.65 0 No comment FOXP2 98.84 0 No comment FOXP3 95.40 0 No comment FOXRED1 98.46 0 No comment FRAS1 98.89 0 No comment FREM1 99.07 0 No comment FREM2 99.25 0 No comment FRMD7 97.20 0 No comment FRMPD4 97.55 0 No comment FRRS1L 82.94 0 No comment FRY 99.11 0 No comment FTCD 98.94 0 No comment FTL 97.48 0 No comment FTO 99.41 0 No comment FTSJ1 98.72 0 No comment FUCA1 98.66 0 No comment FCSK 99.13 0 No comment FUT8 98.58 0 No comment FXN 96.73 0 No comment FYCO1 99.38 0 No comment FZD3 99.31 0 No comment FZD6 99.22 0 No comment G6PC3 99.48 0 No comment GAA 99.39 0 No comment GAB3 94.68 0 No comment GABBR2 96.86 0 No comment GABRA1 99.65 0 No comment GABRA2 99.34 0 No comment GABRA5 99.43 0 No comment GABRB2 98.99 0 No comment GABRB3 99.65 0 No comment GABRG2 91.85 0 No comment GABRG3 99.67 0 No comment GABRQ 96.87 0 No comment GAD1 99.31 0 No comment GALC 98.53 0 No comment GALE 98.79 0 No comment GALK1 99.12 0 No comment GALNS 98.20 0 No comment GALNT2 99.25 0 No comment GALT 99.67 0 No comment GAMT 98.08 0 No comment GAN 98.97 0 No comment GAS8 98.96 0 No comment GATA2 99.39 0 No comment GATA4 94.57 0 No comment GATA6 90.43 0 No comment GATAD2B 99.84 0 No comment GATM 99.31 0 No comment GBA1 99.80 0 No comment GBA2 99.40 0 No comment GBE1 98.14 0 No comment GCDH 99.26 0 No comment GCH1 98.31 0 No comment GCK 99.00 0 No comment GCSH 98.69 0 No comment GDAP1 99.61 0 No comment GDF5 98.79 0 No comment GDF6 95.02 0 No comment GDI1 96.43 0 No comment GEMIN4 99.84 0 No comment GFAP 99.47 0 No comment GFER 96.28 0 No comment GFM1 98.59 0 No comment GHR 98.44 0 No comment GIGYF2 98.79 0 No comment GJA1 99.86 0 No comment GJA3 98.78 0 No comment GJA8 99.16 0 No comment GJB1 99.27 0 No comment GJB2 99.76 0 No comment GJB3 99.85 0 No comment GJC2 86.86 0 No comment GK 95.46 0 No comment GLB1 99.09 0 No comment GLDC 98.46 0 No comment GLE1 99.11 0 No comment GLI2 98.54 0 No comment GLI3 99.24 0 No comment GLIS3 99.02 0 No comment GLMN 98.58 0 No comment GLRA1 98.32 0 No comment GLRA2 91.37 0 No comment GLUD1 97.56 0 No comment GLUL 99.52 0 No comment GLYCTK 99.68 0 No comment GM2A 99.64 0 No comment GMNN 96.21 0 No comment GMPPA 99.75 0 No comment GMPPB 98.26 0 No comment GNAI1 98.99 0 No comment GNAI2 98.07 0 No comment GNAI3 97.86 0 No comment GNAL 97.43 0 No comment GNAO1 98.80 0 No comment GNAS 99.61 0 No comment GNB1 98.37 0 No comment GNB5 99.14 0 No comment GNE 99.40 0 No comment GNPAT 96.78 0 No comment GNPTAB 99.40 0 No comment GNPTG 97.82 0 No comment GNS 99.15 0 No comment GON4L 99.53 0 No comment GORAB 98.74 0 No comment GOSR2 99.40 0 No comment GOT2 99.15 0 No comment GPAA1 99.20 0 No comment GPC3 95.93 0 No comment GPC4 97.39 0 No comment GPHN 99.23 0 No comment ADGRG4 98.24 0 No comment ADGRG6 98.33 0 No comment GPR179 99.76 0 No comment ADGRG1 99.61 0 No comment ADGRV1 98.49 0 No comment GPRASP1 99.60 0 No comment GPSM2 98.63 0 No comment GPT2 95.94 0 No comment GRB14 97.87 0 No comment GRHL3 98.78 0 No comment GRIA1 98.02 0 No comment GRIA2 98.58 0 No comment GRIA3 92.43 0 No comment GRIA4 98.61 0 No comment GRID2 99.29 0 No comment GRIK2 99.11 0 No comment GRIN1 99.26 0 No comment GRIN2A 99.71 0 No comment GRIN2B 99.64 0 No comment GRIN2D 78.36 0 No comment GRIP1 99.51 0 No comment GRM1 98.88 0 No comment GRM6 93.42 0 No comment GRN 99.81 0 No comment GSPT2 99.68 0 No comment GSS 99.18 0 No comment GSX2 99.55 0 No comment GTF2E2 98.84 0 No comment GTF2H5 98.97 0 No comment GTF3C3 98.70 0 No comment GTPBP2 98.27 0 No comment GTPBP3 98.65 0 No comment GTPBP8 98.83 0 No comment GUCY2C 99.16 0 No comment GUSB 98.83 0 No comment GYS2 99.38 0 No comment H3-3A 99.28 0 No comment H3-3B 99.69 0 No comment HACE1 98.93 0 No comment HADH 98.21 0 No comment HADHA 99.44 0 No comment HADHB 99.06 0 No comment HARS2 97.76 0 No comment HAUS7 95.60 0 No comment HAX1 99.52 0 No comment HCCS 97.34 0 No comment HCFC1 97.80 0 No comment HCN1 98.04 0 No comment HDAC4 99.39 0 No comment HDAC6 97.59 0 No comment HDAC8 97.78 0 No comment PUDP 97.74 0 No comment HECW2 98.89 0 No comment HEPACAM 98.19 0 No comment HERC1 99.17 0 No comment HERC2 99.81 0 No comment HESX1 99.33 0 No comment HEXA 99.52 0 No comment HEXB 98.68 0 No comment HGSNAT 93.69 0 No comment HIBCH 99.31 0 No comment HINT1 99.52 0 No comment H1-4 98.83 0 No comment H4C2 99.68 0 No comment H4C3 99.67 0 No comment H4C11 99.75 0 No comment H3-4 99.95 0 No comment HIVEP2 99.83 0 No comment HK1 99.43 0 No comment HLCS 95.35 0 No comment HMGB3 95.15 0 No comment HMGCL 99.25 0 No comment HMGCS2 98.52 0 No comment HNF1B 99.68 0 No comment HNF4A 99.42 0 No comment HNMT 99.40 0 No comment HNRNPH2 98.98 0 No comment HNRNPK 99.14 0 No comment HNRNPR 99.29 0 No comment HNRNPU 99.13 0 No comment HOXA1 99.10 0 No comment HOXA13 75.31 0 No comment HOXC13 98.67 0 No comment HOXD10 99.56 0 No comment HOXD13 96.00 0 No comment HPD 99.12 0 No comment HPGD 98.68 0 No comment HPRT1 91.01 0 No comment HPS1 98.99 0 No comment HPSE2 99.23 0 No comment HR 98.73 0 No comment HRAS 99.96 0 No comment HS6ST2 98.48 0 No comment HSD17B10 99.12 0 No comment HSD17B4 98.53 0 No comment HSD3B7 93.20 0 No comment HSF4 98.76 0 No comment HSPD1 99.48 0 No comment HSPG2 99.24 0 No comment HTRA2 98.32 0 No comment HTT 98.29 0 No comment HUWE1 96.58 0 No comment HYAL1 99.27 0 No comment HYDIN 98.89 0 No comment HYLS1 99.56 0 No comment IARS1 98.84 0 No comment IARS2 98.71 0 No comment IBA57 96.07 0 No comment IDH2 94.56 0 No comment IDS 97.02 0 No comment IDUA 94.91 0 No comment IER3IP1 98.58 0 No comment IFIH1 98.73 0 No comment IFITM5 99.18 0 No comment IFNAR2 99.17 0 No comment IFT122 98.98 0 No comment IFT140 99.19 0 No comment IFT172 99.43 0 No comment IFT27 99.45 0 No comment IFT43 99.37 0 No comment IFT80 98.80 0 No comment IGBP1 98.38 0 No comment IGF1 98.50 0 No comment IGF1R 99.32 0 No comment IGF2 98.94 0 No comment IGHMBP2 99.36 0 No comment IGSF1 95.84 0 No comment IHH 98.73 0 No comment IKBKG 96.16 0 No comment IL11RA 99.17 0 No comment IL1RAPL1 97.07 0 No comment IL1RAPL2 97.20 0 No comment IL3RA 99.85 0 No comment ILF2 99.02 0 No comment BPNT2 99.21 0 No comment INF2 94.80 0 No comment INPP4A 99.16 0 No comment INPP5E 98.98 0 No comment INPP5K 99.11 0 No comment INPPL1 98.07 0 No comment INSR 96.93 0 No comment INTS1 99.07 0 No comment INTS6 98.76 0 No comment INTS8 97.79 0 No comment IQSEC1 96.84 0 No comment IQSEC2 88.71 0 No comment IQSEC3 99.28 0 No comment IRAK1 94.66 0 No comment IRF2BPL 97.48 0 No comment IRF6 98.80 0 No comment IRX5 98.01 0 No comment ISCA2 99.85 0 No comment CRPPA 86.74 0 No comment ITCH 94.90 0 No comment ITGA3 99.19 0 No comment ITGA4 96.65 0 No comment ITGA7 99.02 0 No comment ITGB6 99.17 0 No comment ITIH6 96.21 0 No comment ITPA 99.87 0 No comment ITPR1 98.49 0 No comment IVD 99.26 0 No comment JAG1 99.05 0 No comment JAGN1 99.34 0 No comment JAK3 98.80 0 No comment JAM3 98.99 0 No comment KANK1 98.55 0 No comment KANSL1 99.38 0 No comment KARS1 99.19 0 No comment KAT5 99.33 0 No comment KAT6A 99.45 0 No comment KAT6B 99.14 0 No comment KAT8 96.84 0 No comment KATNAL2 99.21 0 No comment KATNB1 99.24 0 No comment KBTBD13 98.92 0 No comment KCNA1 99.84 0 No comment KCNA2 99.87 0 No comment KCNB1 99.55 0 No comment KCNC1 99.57 0 No comment KCNC3 79.69 0 No comment KCND1 97.45 0 No comment KCND3 99.47 0 No comment KCNE1 99.99 0 No comment KCNH1 99.06 0 No comment KCNH5 98.52 0 No comment KCNJ10 99.06 0 No comment KCNJ11 99.50 0 No comment KCNJ6 99.58 0 No comment KCNK12 94.89 0 No comment KCNK4 98.87 0 No comment KCNK9 99.78 0 No comment KCNMA1 98.89 0 No comment KCNN3 99.58 0 No comment KCNQ1 94.82 0 No comment KCNQ2 98.91 0 No comment KCNQ3 97.63 0 No comment KCNQ5 98.24 0 No comment KCNT1 98.83 0 No comment KCNT2 98.81 0 No comment KCTD1 99.70 0 No comment KCTD3 99.34 0 No comment KCTD7 98.45 0 No comment KDM1A 97.93 0 No comment KDM3B 98.22 0 No comment KDM5A 99.06 0 No comment KDM5B 98.98 0 No comment KDM5C 98.12 0 No comment KDM6A 95.37 0 No comment KDM6B 97.67 0 No comment TMEM94 99.37 0 No comment WASHC5 98.20 0 No comment RUBCN 99.10 0 No comment KIAA0586 93.75 0 No comment KIAA1109 98.44 0 No comment KIFBP 99.27 0 No comment RIC1 99.07 0 No comment LNPK 99.07 0 No comment NEXMIF 99.59 0 No comment KIDINS220 99.40 0 No comment KIF11 98.60 0 No comment KIF14 98.97 0 No comment KIF1A 99.09 0 No comment KIF1C 99.18 0 No comment KIF21A 98.56 0 No comment KIF22 98.71 0 No comment KIF26B 99.62 0 No comment KIF2A 98.32 0 No comment KIF4A 96.82 0 No comment KIF5A 97.77 0 No comment KIF5C 96.11 0 No comment KIF7 96.34 0 No comment KIRREL3 98.99 0 No comment KIT 99.30 0 No comment KLF1 99.27 0 No comment KLF7 99.57 0 No comment KLF8 96.17 0 No comment KLHL15 99.48 0 No comment KLHL21 97.63 0 No comment KLHL34 97.50 0 No comment KLHL4 96.56 0 No comment KLHL40 99.52 0 No comment KLHL7 99.04 0 No comment KMT2A 98.08 0 No comment KMT2B 96.01 0 No comment KMT2C 99.21 0 No comment KMT2D 99.70 0 No comment KMT2E 98.57 0 No comment KPTN 98.80 0 No comment KRAS 97.27 0 No comment KRIT1 98.55 0 No comment L1CAM 97.47 0 No comment L2HGDH 98.33 0 No comment LAMA1 99.36 0 No comment LAMA2 99.11 0 No comment LAMB1 99.38 0 No comment LAMB2 99.40 0 No comment LAMC3 97.47 0 No comment LAMP2 95.99 0 No comment LARGE1 99.44 0 No comment LARP7 97.05 0 No comment LARS2 99.25 0 No comment LAS1L 98.38 0 No comment LBR 99.13 0 No comment LDB3 95.69 0 No comment LEMD3 98.30 0 No comment P3H1 99.32 0 No comment LFNG 80.45 0 No comment LGI1 99.81 0 No comment LGI4 99.14 0 No comment LHFPL3 95.05 0 No comment LHX3 99.03 0 No comment LHX4 99.11 0 No comment LIAS 98.84 0 No comment LIG4 99.71 0 No comment LIMK1 99.08 0 No comment LINGO1 99.68 0 No comment LINS1 98.96 0 No comment LIPT1 98.07 0 No comment LIPT2 97.11 0 No comment LITAF 99.34 0 No comment LMAN2L 99.15 0 No comment LMBRD1 96.71 0 No comment LMNA 98.89 0 No comment LMX1B 99.74 0 No comment LONP1 99.06 0 No comment LOXHD1 99.14 0 No comment LRAT 99.56 0 No comment LRP1 98.97 0 No comment LRP2 99.08 0 No comment LRP4 98.69 0 No comment LRP5 97.97 0 No comment LRPPRC 98.65 0 No comment LRRC32 99.45 0 No comment DNAAF11 99.52 0 No comment LRRK1 99.22 0 No comment LRRK2 98.24 0 No comment LSS 99.87 0 No comment LTBP2 98.85 0 No comment LTBP3 98.16 0 No comment LYRM7 95.36 0 No comment LYST 98.97 0 No comment LZTFL1 98.88 0 No comment LZTR1 99.05 0 No comment MAB21L1 99.89 0 No comment MAB21L2 99.46 0 No comment MACC1 99.56 0 No comment MACF1 98.64 0 No comment MADD 98.87 0 No comment MAF 78.51 0 No comment MAFB 99.20 0 No comment MAGEA11 99.42 0 No comment MAGEB1 99.65 0 No comment MAGEB10 99.72 0 No comment MAGEB2 99.51 0 No comment MAGEC1 98.27 0 No comment MAGEC3 96.41 0 No comment MAGED1 97.72 0 No comment MAGEL2 99.77 0 No comment MAGI2 92.15 0 No comment MAGIX 91.35 0 No comment MAGT1 95.72 0 No comment MAN1B1 97.68 0 No comment MAN2B1 98.69 0 No comment MANBA 98.99 0 No comment MAOA 92.59 0 No comment MAOB 96.46 0 No comment MAP1B 99.62 0 No comment MAP2K1 98.93 0 No comment MAP2K2 99.30 0 No comment MAP3K1 93.46 0 No comment MAP3K15 81.00 0 No comment MAP3K7 98.96 0 No comment MAP7D3 93.50 0 No comment MAPK10 99.23 0 No comment MAPK8IP3 99.17 0 No comment MAPRE2 99.34 0 No comment MAPT 99.44 0 No comment MASP1 99.32 0 No comment MAST1 98.94 0 No comment MAT1A 99.31 0 No comment MATN3 94.73 0 No comment MBD5 99.80 0 No comment MBNL3 97.64 0 No comment MBOAT7 99.23 0 No comment MBTPS2 97.35 0 No comment MC2R 99.83 0 No comment MCCC1 99.36 0 No comment MCCC2 99.42 0 No comment MCEE 99.73 0 No comment MCM3AP 99.17 0 No comment MCM9 99.49 0 No comment MCOLN1 98.09 0 No comment MCPH1 97.71 0 No comment MDH2 99.26 0 No comment MECP2 89.64 0 No comment MECR 98.83 0 No comment MED12 97.94 0 No comment MED12L 98.99 0 No comment MED13 98.50 0 No comment MED13L 99.39 0 No comment MED17 98.61 0 No comment MED23 98.85 0 No comment MED25 97.95 0 No comment MEF2C 99.19 0 No comment MEGF10 98.25 0 No comment MEGF8 99.01 0 No comment MEIS2 99.60 0 No comment MESP2 98.01 0 No comment MET 99.32 0 No comment METTL23 99.70 0 No comment METTL5 94.29 0 No comment MFF 98.90 0 No comment MFRP 98.32 0 No comment MFSD2A 98.61 0 No comment MFSD8 99.49 0 No comment MGAT2 99.31 0 No comment MGAT5B 98.30 0 No comment MGP 99.47 0 No comment MIB1 98.13 0 No comment MICU1 99.39 0 No comment MID1 98.26 0 No comment MITF 99.17 0 No comment MKKS 99.47 0 No comment MKS1 98.74 0 No comment MLC1 98.91 0 No comment MLH1 98.70 0 No comment MLYCD 94.43 0 No comment MMAA 98.59 0 No comment MMAB 99.44 0 No comment MMACHC 99.23 0 No comment MMADHC 98.97 0 No comment MMP13 98.47 0 No comment MMP21 97.96 0 No comment MN1 99.12 0 No comment MNX1 68.62 0 No comment MOCS1 99.12 0 No comment MOCS2 99.33 0 No comment MOGS 98.80 0 No comment MORC4 92.98 0 No comment MPDU1 97.72 0 No comment MPDZ 99.06 0 No comment MPI 99.09 0 No comment MPLKIP 99.41 0 No comment MPV17 99.32 0 No comment MPZ 99.26 0 No comment MRAP 99.40 0 No comment MRE11 98.82 0 No comment MRPS22 99.08 0 No comment MRPS34 97.34 0 No comment MSL3 95.17 0 No comment MSMO1 98.59 0 No comment MSX1 98.22 0 No comment MSX2 99.75 0 No comment MTF1 98.69 0 No comment MTFMT 98.17 0 No comment MTHFR 97.78 0 No comment MTM1 96.15 0 No comment MTMR1 88.31 0 No comment MTMR14 99.36 0 No comment MTMR2 98.85 0 No comment MTMR8 95.90 0 No comment MTO1 93.67 0 No comment MTOR 98.53 0 No comment MTPAP 98.83 0 No comment MTR 99.25 0 No comment MTRR 99.33 0 No comment MTTP 99.03 0 No comment MMUT 98.64 0 No comment MVK 99.52 0 No comment MXRA5 98.86 0 No comment MYBPC1 98.08 0 No comment MYCN 90.97 0 No comment MYH10 99.14 0 No comment MYH3 99.61 0 No comment MYH6 99.58 0 No comment MYH8 99.84 0 No comment MYH9 99.50 0 No comment MYO1D 99.24 0 No comment MYO1G 98.28 0 No comment MYO5A 98.89 0 No comment MYO5B 98.83 0 No comment MYO7A 99.30 0 No comment MYT1L 99.61 0 No comment NAA10 97.29 0 No comment NAA15 96.88 0 No comment NACC1 99.36 0 No comment NADK2 90.73 0 No comment NAGA 99.05 0 No comment NAGLU 92.35 0 No comment NAGS 99.13 0 No comment NALCN 99.30 0 No comment NANS 99.57 0 No comment NBAS 99.15 0 No comment NBEA 98.46 0 No comment NBN 98.71 0 No comment NCAPD2 99.26 0 No comment NCAPG2 98.85 0 No comment NCAPH 96.78 0 No comment NCKAP1 98.92 0 No comment NDE1 99.73 0 No comment NDN 97.93 0 No comment NDP 98.16 0 No comment NDRG1 99.86 0 No comment NDST1 99.02 0 No comment NDUFA1 98.51 0 No comment NDUFA10 99.01 0 No comment NDUFA11 90.58 0 No comment NDUFA12 99.80 0 No comment NDUFA9 98.99 0 No comment NDUFAF1 99.39 0 No comment NDUFAF2 98.80 0 No comment NDUFAF3 99.67 0 No comment NDUFAF5 99.09 0 No comment NDUFS1 98.99 0 No comment NDUFS2 97.41 0 No comment NDUFS3 99.78 0 No comment NDUFS4 97.48 0 No comment NDUFS7 99.69 0 No comment NDUFS8 98.57 0 No comment NDUFV1 99.26 0 No comment NEB 99.00 0 No comment NECAB2 87.19 0 No comment NECAP1 99.07 0 No comment NEDD4L 98.42 0 No comment NEK1 98.94 0 No comment NEU1 99.97 0 No comment NF1 98.44 0 No comment NFASC 98.10 0 No comment NFIA 97.99 0 No comment NFIB 98.14 0 No comment NFIX 97.92 0 No comment NFU1 99.67 0 No comment NGF 98.59 0 No comment NGLY1 99.36 0 No comment NHEJ1 99.58 0 No comment NHLRC1 99.86 0 No comment NHP2 99.45 0 No comment NHS 96.49 0 No comment NIPA1 90.55 0 No comment NIPBL 98.60 0 No comment NKAP 96.73 0 No comment NKX2-1 97.75 0 No comment NKX2-5 99.63 0 No comment NKX3-2 98.37 0 No comment NLGN3 98.40 0 No comment NLGN4X 99.13 0 No comment NLRP3 98.99 0 No comment NMNAT1 97.99 0 No comment NODAL 99.40 0 No comment NOG 99.12 0 No comment NONO 96.77 0 No comment NOP56 99.35 0 No comment NOTCH2 99.27 0 No comment NOVA2 89.97 0 No comment NPC1 98.89 0 No comment NPC2 99.66 0 No comment NPHP1 99.51 0 No comment NPHP3 98.74 0 No comment NPHP4 99.19 0 No comment NPHS1 99.44 0 No comment NPHS2 97.80 0 No comment NPR2 99.34 0 No comment NPR3 90.56 0 No comment NR1I3 99.14 0 No comment NR2F1 90.07 0 No comment NR2F2 98.87 0 No comment NR4A2 99.44 0 No comment NR5A1 97.66 0 No comment NRAS 98.92 0 No comment NRK 96.60 0 No comment NRROS 99.89 0 No comment NRXN1 99.17 0 No comment NRXN2 95.11 0 No comment NRXN3 99.23 0 No comment NSD1 98.92 0 No comment NSDHL 98.64 0 No comment NSF 98.09 0 No comment NSUN2 98.86 0 No comment NT5C2 98.94 0 No comment NT5C3A 98.92 0 No comment NTM 98.61 0 No comment NTNG1 99.58 0 No comment NTNG2 93.49 0 No comment NTRK1 98.79 0 No comment NTRK2 99.23 0 No comment NUBPL 99.17 0 No comment NUDT2 99.10 0 No comment NUP107 97.33 0 No comment NUP188 98.99 0 No comment NUP62 99.65 0 No comment NUS1 97.85 0 No comment NXF5 99.08 0 No comment NYX 92.34 0 No comment OBSL1 98.23 0 No comment OCLN 99.53 0 No comment OCRL 95.55 0 No comment ODC1 99.36 0 No comment ODF2L 97.74 0 No comment OFD1 93.09 0 No comment OGT 96.02 0 No comment OPA3 99.11 0 No comment OPHN1 93.40 0 No comment OR5M1 99.56 0 No comment ORC1 98.75 0 No comment ORC4 98.23 0 No comment ORC6 98.12 0 No comment OSGEP 99.20 0 No comment OTC 94.39 0 No comment OTOGL 91.23 0 No comment OTUD6B 97.21 0 No comment OTUD7A 84.64 0 No comment OTX2 99.74 0 No comment OXCT1 98.14 0 No comment P2RY4 99.46 0 No comment P2RY8 99.54 0 No comment P4HB 99.48 0 No comment P4HTM 95.19 0 No comment PABPC5 99.77 0 No comment PACS1 97.81 0 No comment PACS2 97.16 0 No comment PAFAH1B1 99.12 0 No comment PAH 99.36 0 No comment PAK1 89.41 0 No comment PAK3 93.85 0 No comment PALB2 99.35 0 No comment PANK2 98.65 0 No comment PAPSS2 97.09 0 No comment PRKN 99.61 0 No comment PARK7 98.71 0 No comment PARN 99.92 0 No comment PARP1 99.23 0 No comment PASD1 96.99 0 No comment PAX2 98.63 0 No comment PAX3 99.47 0 No comment PAX6 99.12 0 No comment PAX7 98.68 0 No comment PAX8 99.37 0 No comment PAX9 99.60 0 No comment PBRM1 99.04 0 No comment PBX1 98.79 0 No comment PC 99.26 0 No comment PCBD1 98.19 0 No comment PCCA 99.09 0 No comment PCCB 98.35 0 No comment PCDH10 99.56 0 No comment PCDH12 99.87 0 No comment PCDH19 99.27 0 No comment PCGF2 89.24 0 No comment PCLO 99.20 0 No comment PCNT 98.96 0 No comment PCYT1A 99.37 0 No comment PCYT2 93.96 0 No comment PDCD10 97.57 0 No comment PDE10A 99.49 0 No comment PDE4D 97.01 0 No comment PDE6D 99.57 0 No comment PDE6G 99.28 0 No comment PDGFB 99.27 0 No comment PDGFRB 98.98 0 No comment PDHA1 93.13 0 No comment PDHX 97.66 0 No comment PDSS1 88.79 0 No comment PDSS2 98.91 0 No comment PDYN 97.60 0 No comment PECR 98.78 0 No comment PEPD 99.16 0 No comment PET100 99.52 0 No comment PEX1 98.65 0 No comment PEX10 94.24 0 No comment PEX11B 98.16 0 No comment PEX12 98.98 0 No comment PEX13 99.29 0 No comment PEX14 99.37 0 No comment PEX16 99.69 0 No comment PEX19 98.79 0 No comment PEX2 99.69 0 No comment PEX26 98.07 0 No comment PEX3 98.18 0 No comment PEX5 98.49 0 No comment PEX6 98.82 0 No comment PEX7 98.38 0 No comment PGAP1 97.38 0 No comment PGAP2 99.62 0 No comment PGAP3 97.87 0 No comment PGK1 98.42 0 No comment PGM1 98.11 0 No comment PGM3 99.56 0 No comment PGRMC1 98.26 0 No comment PHACTR1 89.43 0 No comment PHC1 99.13 0 No comment PHF10 95.41 0 No comment PHF21A 98.68 0 No comment PHF6 87.29 0 No comment PHF8 98.16 0 No comment PHGDH 99.24 0 No comment PHIP 98.39 0 No comment PHKA1 96.26 0 No comment PHKA2 95.35 0 No comment PHKG2 99.76 0 No comment PHOX2B 94.35 0 No comment PIEZO2 98.61 0 No comment PIGA 96.21 0 No comment PIGB 99.29 0 No comment PIGC 99.49 0 No comment PIGG 99.35 0 No comment PIGH 99.72 0 No comment PIGK 97.34 0 No comment PIGL 99.60 0 No comment PIGN 97.35 0 No comment PIGO 99.30 0 No comment PIGP 97.65 0 No comment PIGQ 99.47 0 No comment PIGS 99.30 0 No comment PIGT 99.18 0 No comment PIGU 96.64 0 No comment PIGV 99.64 0 No comment PIGW 99.86 0 No comment PIGY 98.77 0 No comment PIK3C2A 98.95 0 No comment PIK3C3 98.08 0 No comment PIK3CA 98.58 0 No comment PIK3R1 98.70 0 No comment PIK3R2 92.16 0 No comment PIN4 94.34 0 No comment PINK1 96.58 0 No comment PITRM1 99.18 0 No comment PITX2 98.79 0 No comment PITX3 99.21 0 No comment PJA1 99.79 0 No comment PKD1L1 99.32 0 No comment PKHD1 99.32 0 No comment PLA2G6 99.38 0 No comment PLAA 99.25 0 No comment PLCB1 98.83 0 No comment PLCE1 98.80 0 No comment PLCXD1 96.54 0 No comment PLEC 99.59 0 No comment PLEKHG2 99.01 0 No comment PLK4 98.64 0 No comment PLOD1 98.15 0 No comment PLOD2 98.29 0 No comment PLOD3 98.92 0 No comment PLP1 98.91 0 No comment PLXNB3 98.08 0 No comment PMM2 97.92 0 No comment PMP22 99.70 0 No comment PMPCA 99.22 0 No comment PMPCB 98.76 0 No comment PMS2 98.73 0 No comment PNKD 99.01 0 No comment PNKP 99.38 0 No comment PNP 99.48 0 No comment PNPLA6 99.18 0 No comment PNPO 98.09 0 No comment PNPT1 98.94 0 No comment POC1A 98.69 0 No comment POC1B 98.91 0 No comment POGLUT1 99.01 0 No comment POGZ 99.08 0 No comment POLA1 93.70 0 No comment POLD1 99.32 0 No comment POLG 98.98 0 No comment POLR1C 99.42 0 No comment POLR1D 94.97 0 No comment POLR2A 93.09 0 No comment POLR3A 99.17 0 No comment POLR3B 98.52 0 No comment POMGNT1 98.91 0 No comment POMGNT2 99.93 0 No comment POMT1 99.40 0 No comment POMT2 98.43 0 No comment PORCN 98.49 0 No comment POU1F1 99.20 0 No comment POU3F3 72.47 0 No comment PPA2 98.38 0 No comment PPM1D 98.90 0 No comment PPOX 99.10 0 No comment PPP1CB 99.15 0 No comment PPP1R15B 99.76 0 No comment PPP1R1B 97.58 0 No comment PPP1R21 97.12 0 No comment PPP2CA 99.22 0 No comment PPP2R1A 99.53 0 No comment PPP2R2B 99.49 0 No comment PPP2R5D 99.23 0 No comment PPP3CA 97.94 0 No comment PPT1 99.42 0 No comment PQBP1 98.03 0 No comment PRDM12 87.59 0 No comment PRDX4 76.26 0 No comment PREPL 99.18 0 No comment PRICKLE1 99.56 0 No comment PRICKLE2 99.38 0 No comment PRICKLE3 96.71 0 No comment PRKAR1A 99.58 0 No comment PRKCG 99.43 0 No comment PRKD1 98.77 0 No comment PRKRA 99.26 0 No comment PRMT9 98.98 0 No comment PRMT7 98.06 0 No comment PRODH 98.11 0 No comment PROP1 99.63 0 No comment PLPBP 95.56 0 No comment PROX2 99.44 0 No comment PRPS1 95.38 0 No comment PRR12 98.27 0 No comment PRRG1 94.01 0 No comment PRRG3 97.85 0 No comment PRRT2 99.50 0 No comment PRSS12 99.22 0 No comment PRSS56 98.31 0 No comment PRUNE1 99.16 0 No comment PRX 99.79 0 No comment PSAP 99.57 0 No comment PSAT1 99.42 0 No comment PSEN1 99.47 0 No comment PSMA7 92.67 0 No comment PSMB8 99.96 0 No comment PSMD10 98.66 0 No comment PSMD12 99.46 0 No comment PSPH 99.39 0 No comment PTCH1 98.24 0 No comment PTCHD1 99.55 0 No comment PTDSS1 99.53 0 No comment PTEN 97.06 0 No comment PTF1A 84.73 0 No comment PTH1R 99.36 0 No comment PTHLH 99.63 0 No comment PTPN11 98.87 0 No comment PTPN21 99.21 0 No comment PTPN23 99.40 0 No comment PTRH2 99.69 0 No comment PTRHD1 99.61 0 No comment PTS 97.89 0 No comment PUF60 99.63 0 No comment PUM1 98.63 0 No comment PURA 95.31 0 No comment PUS1 93.61 0 No comment PUS3 99.35 0 No comment PUS7 99.26 0 No comment NECTIN1 99.41 0 No comment PYCR1 99.44 0 No comment PYCR2 98.91 0 No comment PYGL 99.15 0 No comment QARS1 99.24 0 No comment QDPR 99.29 0 No comment QKI 99.00 0 No comment QRICH1 99.47 0 No comment RAB11A 99.26 0 No comment RAB11B 99.79 0 No comment RAB18 98.52 0 No comment RAB23 98.94 0 No comment RAB27A 96.61 0 No comment RAB39B 99.40 0 No comment RAB3GAP1 98.90 0 No comment RAB3GAP2 99.12 0 No comment RAB40AL 99.76 0 No comment RABL6 99.51 0 No comment RAC1 98.23 0 No comment NCOA3 95.06 0 No comment RAD21 98.41 0 No comment RAD50 97.32 0 No comment RAD51 86.56 0 No comment RAD51C 98.85 0 No comment RAF1 99.16 0 No comment RAI1 99.61 0 No comment RALA 96.03 0 No comment RALGAPA1 98.41 0 No comment RALGDS 95.93 0 No comment RANBP17 98.36 0 No comment RANBP2 99.68 0 No comment RAPGEF1 99.41 0 No comment RAPSN 99.04 0 No comment RARB 99.38 0 No comment RARS1 97.45 0 No comment RARS2 99.01 0 No comment RASA1 97.27 0 No comment RAX 93.04 0 No comment RBBP8 97.45 0 No comment RBFOX1 97.68 0 No comment RBL2 98.08 0 No comment RBM10 97.07 0 No comment RBM28 99.52 0 No comment RBM8A 99.76 0 No comment RBPJ 99.63 0 No comment RECQL4 98.44 0 No comment REEP1 98.11 0 No comment REEP2 98.01 0 No comment RELN 99.14 0 No comment RENBP 93.79 0 No comment RERE 97.47 0 No comment RET 98.30 0 No comment RFT1 97.40 0 No comment RFX6 98.63 0 No comment RTL9 99.02 0 No comment RGN 96.72 0 No comment RGS7 99.42 0 No comment RHEB 99.03 0 No comment RHOBTB2 98.98 0 No comment RIMS1 98.15 0 No comment RIPK4 99.54 0 No comment RIT1 99.28 0 No comment RLIM 99.09 0 No comment RMND1 99.20 0 No comment RNASEH2A 99.80 0 No comment RNASEH2B 94.50 0 No comment RNASEH2C 99.62 0 No comment RNASET2 99.20 0 No comment RNF113A 99.44 0 No comment RNF125 98.59 0 No comment RNF13 97.23 0 No comment RNF135 98.54 0 No comment RNF168 99.46 0 No comment RNF216 99.40 0 No comment ROBO3 98.40 0 No comment ROGDI 96.44 0 No comment ROR2 97.79 0 No comment RORA 99.37 0 No comment RORB 99.16 0 No comment RPE65 99.50 0 No comment RPGR 91.56 0 No comment RPGRIP1 98.66 0 No comment RPGRIP1L 95.87 0 No comment RPIA 97.45 0 No comment RPL10 97.70 0 No comment RPS19 98.91 0 No comment RPS23 99.81 0 No comment RPS6KA3 91.96 0 No comment RRAS 94.70 0 No comment RRM2B 98.76 0 No comment RSPH1 99.58 0 No comment RSPH3 99.23 0 No comment RSPO4 99.59 0 No comment RSPRY1 98.70 0 No comment RSRC1 94.18 0 No comment RTEL1 99.53 0 No comment RTN2 99.37 0 No comment RTN4IP1 98.71 0 No comment RTTN 98.24 0 No comment RUNX2 99.01 0 No comment RUSC2 99.39 0 No comment RYR1 97.61 0 No comment RYR3 99.20 0 No comment SACS 99.78 0 No comment SALL1 99.82 0 No comment SALL4 99.82 0 No comment SAMD9 99.90 0 No comment SAMHD1 99.51 0 No comment SARS2 99.19 0 No comment SATB1 99.00 0 No comment SATB2 99.38 0 No comment SBDS 99.45 0 No comment SBF1 99.15 0 No comment SBF2 98.85 0 No comment SC5D 98.71 0 No comment SCAF4 98.85 0 No comment SCAMP5 99.20 0 No comment SCAPER 98.60 0 No comment SCARB2 99.18 0 No comment SCARF2 93.83 0 No comment SCN11A 98.88 0 No comment SCN1A 98.90 0 No comment SCN1B 95.08 0 No comment SCN2A 99.00 0 No comment SCN3A 99.17 0 No comment SCN4A 98.53 0 No comment SCN8A 96.15 0 No comment SCN9A 98.95 0 No comment SCO1 99.42 0 No comment SCO2 95.41 0 No comment SCRIB 99.36 0 No comment SCYL1 98.07 0 No comment SDCCAG8 99.21 0 No comment SDHA 98.78 0 No comment SDHAF1 95.67 0 No comment SEC23B 98.95 0 No comment SEC31A 98.89 0 No comment SEPSECS 98.34 0 No comment SERAC1 98.92 0 No comment SET 99.64 0 No comment SETBP1 96.95 0 No comment SETD1A 98.37 0 No comment SETD1B 95.43 0 No comment SETD2 99.04 0 No comment SETD5 99.01 0 No comment SETDB2 98.15 0 No comment SETX 99.48 0 No comment SF3B4 98.95 0 No comment SGCA 99.28 0 No comment SGCE 93.44 0 No comment SGPL1 98.02 0 No comment SGSH 99.56 0 No comment SH3PXD2B 98.34 0 No comment SH3TC2 99.47 0 No comment SHANK1 95.42 0 No comment SHANK2 95.90 0 No comment SHANK3 84.05 0 No comment SHH 97.41 0 No comment SHOC2 98.50 0 No comment SHOX 99.66 0 No comment SHROOM2 96.54 0 No comment SHROOM4 98.99 0 No comment SIGMAR1 99.83 0 No comment SIK1 99.55 0 No comment SIL1 99.44 0 No comment SIN3A 99.40 0 No comment SIX1 99.50 0 No comment SIX3 98.04 0 No comment SIX5 96.91 0 No comment SKI 94.70 0 No comment SKIC2 99.87 0 No comment SLC12A5 98.41 0 No comment SLC12A6 98.39 0 No comment SLC13A5 98.63 0 No comment SLC16A2 99.13 0 No comment SLC17A5 98.11 0 No comment SLC19A3 98.65 0 No comment SLC1A1 99.06 0 No comment SLC1A2 98.81 0 No comment SLC1A4 99.04 0 No comment SLC20A2 98.04 0 No comment SLC22A5 99.51 0 No comment SLC25A1 93.07 0 No comment SLC25A12 98.89 0 No comment SLC25A13 99.00 0 No comment SLC25A15 99.02 0 No comment SLC25A19 98.60 0 No comment SLC25A20 96.95 0 No comment SLC25A22 98.89 0 No comment SLC25A24 99.54 0 No comment SLC25A26 99.04 0 No comment SLC25A38 99.44 0 No comment SLC25A53 99.18 0 No comment SLC25A6 93.97 0 No comment SLC26A2 99.60 0 No comment SLC26A9 98.51 0 No comment SLC27A4 99.39 0 No comment SLC2A1 99.21 0 No comment SLC2A10 99.62 0 No comment SLC2A2 98.55 0 No comment SLC30A9 98.53 0 No comment SLC31A1 98.80 0 No comment SLC33A1 98.15 0 No comment SLC35A1 98.63 0 No comment SLC35A2 98.33 0 No comment SLC35A3 98.16 0 No comment SLC35C1 99.23 0 No comment SLC35D1 97.31 0 No comment SLC39A13 99.08 0 No comment SLC39A14 99.48 0 No comment SLC39A8 99.08 0 No comment SLC45A1 99.36 0 No comment SLC46A1 99.30 0 No comment SLC4A1 95.32 0 No comment SLC4A11 99.30 0 No comment SLC4A4 98.81 0 No comment SLC52A3 99.86 0 No comment SLC5A2 99.60 0 No comment SLC5A5 98.75 0 No comment SLC5A6 99.13 0 No comment SLC5A7 99.53 0 No comment SLC6A1 98.74 0 No comment SLC6A17 98.68 0 No comment SLC6A19 99.55 0 No comment SLC6A3 99.88 0 No comment SLC6A4 99.05 0 No comment SLC6A5 99.35 0 No comment SLC6A8 91.92 0 No comment SLC6A9 99.08 0 No comment SLC7A7 99.58 0 No comment SLC9A6 89.27 0 No comment SLC9A9 98.10 0 No comment SLX4 99.16 0 No comment SMAD3 98.93 0 No comment SMAD4 99.09 0 No comment SMARCA1 93.45 0 No comment SMARCA2 96.71 0 No comment SMARCA4 98.96 0 No comment SMARCAL1 99.40 0 No comment SMARCB1 99.67 0 No comment SMARCC1 98.91 0 No comment SMARCC2 98.49 0 No comment SMARCD1 98.02 0 No comment SMARCD2 89.27 0 No comment SMARCD3 95.19 0 No comment SMARCE1 99.13 0 No comment SMC1A 97.63 0 No comment SMC3 98.43 0 No comment SMCHD1 96.94 0 No comment SMG9 99.03 0 No comment SMO 97.34 0 No comment SMOC1 99.47 0 No comment SMPD1 99.59 0 No comment SMPD4 99.16 0 No comment SMS 93.00 0 No comment SNAP25 99.07 0 No comment SNAP29 97.81 0 No comment SNCA 99.88 0 No comment SNIP1 99.49 0 No comment SNRPB 99.04 0 No comment SNTG1 99.41 0 No comment SNX14 98.24 0 No comment SNX27 97.42 0 No comment SNX3 97.57 0 No comment SOBP 91.72 0 No comment SON 99.58 0 No comment SOS1 98.49 0 No comment SOS2 98.44 0 No comment SOX10 99.18 0 No comment SOX11 98.67 0 No comment SOX17 99.36 0 No comment SOX2 99.09 0 No comment SOX3 92.70 0 No comment SOX4 92.73 0 No comment SOX5 99.41 0 No comment SOX6 98.79 0 No comment SOX9 98.76 0 No comment SPAG1 92.96 0 No comment SPAST 98.37 0 No comment AFG2A 98.79 0 No comment SPECC1L 99.39 0 No comment SPEG 98.56 0 No comment SPG11 98.94 0 No comment SPART 99.65 0 No comment SPG21 99.56 0 No comment SPG7 97.12 0 No comment SPR 96.31 0 No comment SPRED1 99.02 0 No comment SPRTN 98.90 0 No comment SPRY3 99.98 0 No comment SPTAN1 98.92 0 No comment SPTBN2 99.21 0 No comment SPTLC1 99.27 0 No comment SPTLC2 97.79 0 No comment SRCAP 99.48 0 No comment SRD5A3 99.57 0 No comment SREBF2 98.39 0 No comment SRGAP3 99.31 0 No comment SRP54 98.17 0 No comment SRPX2 97.52 0 No comment SRY 49.45 0 No comment SSR4 96.62 0 No comment ST3GAL3 99.33 0 No comment ST3GAL5 95.14 0 No comment STAB2 99.01 0 No comment STAG1 98.53 0 No comment STAG2 88.40 0 No comment STAMBP 99.15 0 No comment STAR 98.82 0 No comment STARD8 98.62 0 No comment STAT1 99.43 0 No comment STAT5B 99.51 0 No comment STIL 99.10 0 No comment STRA6 98.39 0 No comment STRADA 98.02 0 No comment STS 94.96 0 No comment STT3A 99.15 0 No comment STT3B 97.48 0 No comment STUB1 98.49 0 No comment STX11 99.96 0 No comment STX1B 99.29 0 No comment STX3 99.34 0 No comment STXBP1 99.41 0 No comment SUCLG1 97.18 0 No comment SUFU 97.89 0 No comment SUMF1 99.40 0 No comment SUOX 99.68 0 No comment SURF1 97.97 0 No comment KMT5B 99.52 0 No comment SYN1 90.54 0 No comment SYNCRIP 99.53 0 No comment SYNE1 99.37 0 No comment SYNGAP1 97.57 0 No comment SYNJ1 98.62 0 No comment SYP 98.38 0 No comment SYT1 98.69 0 No comment SYT14 92.68 0 No comment SYTL4 95.73 0 No comment SYTL5 95.65 0 No comment SZT2 99.40 0 No comment TAB2 99.63 0 No comment TACO1 99.03 0 No comment TAF1 96.88 0 No comment TAF13 99.08 0 No comment TAF2 98.77 0 No comment TAF6 98.77 0 No comment TAF7L 96.34 0 No comment TANC2 99.08 0 No comment TANGO2 99.49 0 No comment TAOK1 98.85 0 No comment TARDBP 98.93 0 No comment TAT 99.63 0 No comment TAFAZZIN 98.45 0 No comment TBC1D20 96.79 0 No comment TBC1D23 96.93 0 No comment TBC1D24 99.04 0 No comment TBC1D7 99.38 0 No comment TBC1D8B 94.09 0 No comment TBCD 99.00 0 No comment TBCE 97.65 0 No comment TBCK 98.11 0 No comment TBL1XR1 99.36 0 No comment TBP 94.39 0 No comment TBR1 97.83 0 No comment TBX1 80.23 0 No comment TBX15 99.32 0 No comment TBX20 98.62 0 No comment TBX22 98.45 0 No comment TBX3 99.44 0 No comment TBX4 96.92 0 No comment TBX5 99.04 0 No comment TBXAS1 99.15 0 No comment TCEAL3 98.98 0 No comment TCF12 99.27 0 No comment TCF20 99.92 0 No comment TCF4 98.18 0 No comment TCN2 99.16 0 No comment TCOF1 98.98 0 No comment TCP10L2 96.65 0 No comment TCTN1 99.23 0 No comment TCTN2 98.51 0 No comment TCTN3 99.33 0 No comment TDP2 98.45 0 No comment TECPR2 97.98 0 No comment TECR 99.15 0 No comment TEK 98.69 0 No comment TELO2 98.42 0 No comment TENM1 97.40 0 No comment TERT 97.99 0 No comment TFAP2A 99.10 0 No comment TFAP2B 99.67 0 No comment TFB2M 97.77 0 No comment TFE3 97.18 0 No comment TFG 97.71 0 No comment TGDS 98.69 0 No comment TGFB1 98.69 0 No comment TGFB2 99.24 0 No comment TGFB3 98.80 0 No comment TGFBR1 94.44 0 No comment TGFBR2 99.42 0 No comment TGIF1 99.54 0 No comment TGM6 99.52 0 No comment TH 98.92 0 No comment THAP1 99.83 0 No comment THOC2 95.28 0 No comment THOC6 99.31 0 No comment THRA 98.88 0 No comment THRB 99.50 0 No comment THUMPD1 97.86 0 No comment TIMM50 99.61 0 No comment TIMM8A 98.50 0 No comment TINF2 99.50 0 No comment TK2 96.78 0 No comment TKT 97.27 0 No comment TKTL1 96.74 0 No comment TLK2 98.47 0 No comment TLR8 97.46 0 No comment TM4SF20 99.00 0 No comment TMCO1 94.77 0 No comment TMEM126B 97.26 0 No comment TMEM132E 98.50 0 No comment TMEM135 98.43 0 No comment TMEM165 94.88 0 No comment TMEM216 99.71 0 No comment TMEM231 99.23 0 No comment TMEM237 97.63 0 No comment TMEM240 99.05 0 No comment TMEM260 98.99 0 No comment RXYLT1 98.12 0 No comment TMEM67 96.82 0 No comment TMEM70 99.03 0 No comment TMLHE 95.63 0 No comment TMPRSS6 99.18 0 No comment TMTC3 98.30 0 No comment TMX2 99.71 0 No comment TNIK 98.61 0 No comment TNKS2 98.85 0 No comment TNPO2 99.19 0 No comment TNRC6B 99.23 0 No comment TOE1 99.29 0 No comment TOMM70 98.81 0 No comment TOR1A 99.40 0 No comment TP63 99.19 0 No comment TPH2 99.50 0 No comment TPK1 98.78 0 No comment TPP1 99.55 0 No comment TRAF7 99.15 0 No comment TRAIP 99.21 0 No comment TRAK1 99.03 0 No comment TRAPPC11 99.04 0 No comment TRAPPC12 99.42 0 No comment TRAPPC2 95.98 0 No comment TRAPPC4 99.44 0 No comment TRAPPC6A 98.87 0 No comment TRAPPC6B 98.72 0 No comment TRAPPC9 99.07 0 No comment TREX1 99.86 0 No comment TREX2 96.69 0 No comment TRHR 99.49 0 No comment TRIM32 99.91 0 No comment TRIM37 99.00 0 No comment TRIM8 98.75 0 No comment TRIO 96.38 0 No comment TRIP11 99.09 0 No comment TRIP12 98.93 0 No comment TRIP13 96.31 0 No comment TRIT1 99.11 0 No comment TRMT1 98.51 0 No comment TRMT10A 99.25 0 No comment TRPM1 99.80 0 No comment TRPM3 99.30 0 No comment TRPS1 99.67 0 No comment TRPV4 98.68 0 No comment TRRAP 98.54 0 No comment TSC1 99.22 0 No comment TSC2 98.76 0 No comment TSC22D3 98.85 0 No comment TSEN15 99.17 0 No comment TSEN2 99.38 0 No comment TSEN34 99.39 0 No comment TSEN54 96.81 0 No comment TSFM 91.27 0 No comment TSHB 99.78 0 No comment TSHR 99.48 0 No comment TSPAN7 97.97 0 No comment TSPAN8 98.82 0 No comment TTBK2 98.86 0 No comment TTC19 96.22 0 No comment SKIC3 99.15 0 No comment TTC5 99.03 0 No comment TTC7A 98.98 0 No comment TTC8 98.53 0 No comment TTI2 99.31 0 No comment TTN 99.43 0 No comment TTPA 96.73 0 No comment TTR 98.18 0 No comment TUBA1A 99.98 0 No comment TUBA8 99.57 0 No comment TUBAL3 99.75 0 No comment TUBB 99.92 0 No comment TUBB2A 99.92 0 No comment TUBB2B 99.64 0 No comment TUBB3 99.69 0 No comment TUBB4A 99.78 0 No comment TUBG1 99.68 0 No comment TUBGCP4 98.92 0 No comment TUBGCP6 99.55 0 No comment TUFM 99.36 0 No comment TUSC3 99.50 0 No comment TWIST1 87.92 0 No comment TWIST2 99.24 0 No comment TXNL4A 99.72 0 No comment TYR 99.29 0 No comment TYRP1 99.39 0 No comment UBA5 98.17 0 No comment UBE2A 88.22 0 No comment UBE3A 99.06 0 No comment UBE3B 98.65 0 No comment UBR1 99.11 0 No comment UBR4 98.90 0 No comment UBR7 97.01 0 No comment UBTF 99.61 0 No comment UFC1 99.37 0 No comment UFM1 99.16 0 No comment UGP2 98.46 0 No comment UGT1A1 99.45 0 No comment UMPS 98.48 0 No comment UNC13A 99.25 0 No comment UNC80 98.86 0 No comment UPB1 99.39 0 No comment UPF3B 94.60 0 No comment UQCRB 99.87 0 No comment UQCRQ 99.36 0 No comment UROC1 99.06 0 No comment UROS 99.56 0 No comment USB1 99.41 0 No comment USP18 99.79 0 No comment USP27X 99.46 0 No comment USP7 99.02 0 No comment USP9X 95.44 0 No comment UTP14A 97.77 0 No comment UVSSA 99.24 0 No comment VAMP1 96.99 0 No comment VAMP2 99.53 0 No comment VAMP7 96.50 0 No comment VARS1 99.74 0 No comment VDR 97.94 0 No comment CPAMD8 98.98 0 No comment VIPAS39 98.17 0 No comment VLDLR 99.08 0 No comment VPS11 99.39 0 No comment VPS13B 98.28 0 No comment VPS33B 99.23 0 No comment VPS35 99.22 0 No comment VPS51 99.19 0 No comment VPS53 97.29 0 No comment VRK1 98.70 0 No comment VSX2 98.36 0 No comment WAC 98.16 0 No comment WARS2 99.20 0 No comment WASF1 98.47 0 No comment WDFY3 99.10 0 No comment WDPCP 98.96 0 No comment WDR11 99.19 0 No comment WDR13 96.77 0 No comment WDR19 98.40 0 No comment WDR26 98.93 0 No comment DYNC2I2 98.79 0 No comment WDR35 99.09 0 No comment WDR37 99.18 0 No comment WDR4 98.27 0 No comment WDR45 97.90 0 No comment WDR45B 99.15 0 No comment DYNC2I1 98.85 0 No comment WDR62 99.01 0 No comment WDR73 99.05 0 No comment WDR81 99.65 0 No comment WFS1 99.63 0 No comment NSD2 99.05 0 No comment WIPI2 98.93 0 No comment WNK3 97.70 0 No comment WNT1 98.69 0 No comment WNT10B 98.91 0 No comment WNT3 99.00 0 No comment WNT4 93.68 0 No comment WNT5A 98.73 0 No comment WNT7A 99.49 0 No comment WRAP53 98.86 0 No comment WRN 98.36 0 No comment WT1 98.77 0 No comment WWC3 96.63 0 No comment WWOX 99.58 0 No comment XIAP 97.48 0 No comment XK 96.00 0 No comment XKRX 98.90 0 No comment XPA 99.29 0 No comment XPC 98.92 0 No comment XPNPEP3 99.18 0 No comment XRCC4 98.59 0 No comment XYLT1 90.22 0 No comment YAP1 98.22 0 No comment YARS1 99.78 0 No comment YWHAG 99.64 0 No comment YY1 98.44 0 No comment ZBTB11 99.16 0 No comment ZBTB16 99.58 0 No comment ZBTB18 98.72 0 No comment ZBTB20 99.54 0 No comment ZBTB24 99.82 0 No comment ZBTB40 99.17 0 No comment ZC3H14 98.92 0 No comment ZC4H2 96.37 0 No comment ZCCHC12 98.81 0 No comment ZCCHC8 92.04 0 No comment ZDHHC15 90.89 0 No comment ZDHHC9 97.43 0 No comment ZEB2 98.91 0 No comment ZFHX4 99.34 0 No comment ZFP57 99.93 0 No comment ZFX 98.98 0 No comment ZFYVE26 99.08 0 No comment ZIC1 99.80 0 No comment ZIC2 89.81 0 No comment ZIC3 99.00 0 No comment ZMIZ1 99.16 0 No comment ZMPSTE24 98.12 0 No comment ZMYM3 97.06 0 No comment ZMYM6 98.59 0 No comment ZMYND11 99.29 0 No comment ZMYND12 98.18 0 No comment ZNF142 99.52 0 No comment ZNF148 99.29 0 No comment ZNF292 99.59 0 No comment ZNF335 98.86 0 No comment ZNF41 99.12 0 No comment ZNF425 99.39 0 No comment ZNF462 99.73 0 No comment ZNF526 99.70 0 No comment ZNF592 99.65 0 No comment ZNF599 99.82 0 No comment ZNF674 98.90 0 No comment ZNF711 97.16 0 No comment ZNF713 99.38 0 No comment ZNF81 99.07 0 No comment ZSWIM6 88.76 0 No comment -
Intellectual disability/Epilepsy (1091 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia ABCD1 99.49 0 Adrenoleukodystrophy ABHD5 98.48 0 Chanarin-Dorfman syndrome ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency ACO2 99.66 0 Infantile cerebellar-retinal degeneration ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency ACSL4 91.09 0 Mental retardation, X-linked 63 ACTB 99.34 0 Baraitser-Winter syndrome 1 ACTG1 99.69 0 Baraitser-Winter syndrome 2 ACY1 99.67 0 Aminoacylase 1 deficiency ADAR 99.45 0 Aicardi-Goutieres syndrome 6 ADAT3 81.40 0 Mental retardation, autosomal recessive 36 ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency ADNP 99.55 0 Helsmoortel-van der Aa syndrome ADSL 99.58 0 Adenylosuccinase deficiency AFF2 90.80 0 Mental retardation, X-linked, FRAXE type AGA 99.60 0 Aspartylglucosaminuria AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1 AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHDC1 99.68 0 Xia-Gibbs syndrome AHI1 99.05 0 Joubert syndrome 3 AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3 AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA ALDH3A2 99.31 0 Sjogren-Larsson syndrome ALDH4A1 96.44 0 Hyperprolinemia, type II ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent ALG1 99.43 0 Congenital disorder of glycosylation, type Ik ALG11 99.57 0 Congenital disorder of glycosylation, type Ip ALG12 99.69 0 Congenital disorder of glycosylation, type Ig ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36 ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates ALG3 99.59 0 Congenital disorder of glycosylation, type Id ALG6 98.36 0 Congenital disorder of glycosylation, type Ic ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome ALMS1 98.27 0 Alstrom syndrome ALX1 99.52 0 Frontonasal dysplasia 3 ALX4 99.07 0 Frontonasal dysplasia 2 AMER1 99.96 0 Osteopathia striata with cranial sclerosis AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9 AMT 99.69 0 Glycine encephalopathy ANK3 99.47 0 Mental retardation, autosomal recessive, 37 ANKH 99.64 0 Craniometaphyseal dysplasia ANKRD11 99.68 0 KBG syndrome AP1S1 99.50 0 MEDNIK syndrome AP1S2 88.78 0 Mental retardation, X-linked syndromic 5 AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly ARG1 99.53 0 Argininemia ARHGAP31 99.60 0 Adams-Oliver syndrome 1 ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8 ARID1A 97.02 0 Coffin-Siris syndrome 2 ARID1B 97.57 0 Coffin-Siris syndrome 1 ARID2 99.33 0 Coffis-Siris syndrome 6 ARL13B 98.36 0 Joubert syndrome 8 ARL6 99.09 0 Bardet-Biedl syndrome 3 ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive ARX 65.25 0 Mental retardation, X-linked 29 and others ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome ASNS 99.42 0 Asparagine synthetase deficiency ASPA 99.17 0 Canavan disease ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive ASXL1 95.03 0 Bohring-Opitz syndrome ASXL3 98.20 0 Bainbridge-Ropers syndrome ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA ATP7A 94.32 0 Menkes disease ATR 99.17 0 Seckel syndrome 1 ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked AUH 96.75 0 3-methylglutaconic aciduria, type I AUTS2 97.55 0 Mental retardation, autosomal dominant 26 B3GLCT 92.21 0 Peters-plus syndrome B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies BBIP1 99.64 0 Bardet-Biedl syndrome 18 BBS1 99.66 0 Bardet-Biedl syndrome 1 BBS10 99.57 0 Bardet-Biedl syndrome 10 BBS12 99.52 0 Bardet-Biedl syndrome 12 BBS2 99.32 0 Bardet-Biedl syndrome 2 BBS4 99.49 0 Bardet-Biedl syndrome 4 BBS5 98.49 0 Bardet-Biedl syndrome 5 BBS7 99.00 0 Bardet-Biedl syndrome 7 BBS9 98.68 0 Bardet-Biedl syndrome 9 BCKDHB 98.82 0 Maple syrup urine disease, type Ib BCL11A 99.16 0 Dias-Logan syndrome BCOR 96.85 0 Microphthalmia, syndromic 2 BCS1L 99.69 0 Leigh syndrome BLM 99.07 0 Bloom syndrome BRAF 94.78 0 Noonan syndrome 7 BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis BRWD3 93.74 0 Mental retardation, X-linked 93 BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy BTD 99.68 0 Biotinidase deficiency BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1 C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie. C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4 C2CD3 99.44 0 Orofaciodigital syndrome XIV CPLANE1 98.89 0 Joubert syndrome 17 CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42 CACNA1C 99.65 0 Timothy syndrome CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities CAMK2A 99.67 0 Mental retardation, autosomal dominant 53 CAMK2B 96.34 0 Mental retardation, autosomal dominant 54 CANT1 99.60 0 Desbuquois dysplasia 1 CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4 CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types CC2D1A 99.64 0 Mental retardation, autosomal recessive 3 CC2D2A 99.11 0 Joubert syndrome 9 CCDC22 99.91 0 Ritscher-Schinzel syndrome 2 CCDC39 98.07 0 Ciliary dyskinesia, primary, 14 CCDC78 99.69 0 Myopathy, centronuclear, 4 CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive CD96 99.13 0 C syndrome CDC45 99.57 0 Meier-Gorlin syndrome 7 CDC6 99.32 0 Meier-Gorlin syndrome 5 CDH15 96.19 0 Mental retardation, autosomal dominant 3 CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2 CDON 98.90 0 Holoprosencephaly 11 CDT1 89.72 0 Meier-Gorlin syndrome 4 CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive CEP290 97.64 0 Joubert syndrome 5 CEP41 99.07 0 Joubert syndrome 15 CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2 CEP63 99.06 0 Seckel syndrome 6 CHAMP1 99.63 0 Mental retardation, autosomal dominant 40 CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic CHD2 99.18 0 Epileptic encephalopathy, childhood-onset CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome CHD7 99.53 0 CHARGE syndrome CHD8 99.58 0 Autism, susceptibility to, 18 CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8 CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1 CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel CISD2 98.61 0 Wolfram syndrome 2 CLCN4 99.27 0 Mental retardation, X-linked 49/15 CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3 CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5 CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6 CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8 CLP1 99.68 0 Pontocerebellar hypoplasia, type 10 CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1 COASY 99.68 0 Neurodegeneration with brain iron accumulation 6 COG1 98.34 0 Congenital disorder of glycosylation, type IIg COG5 99.11 0 Congenital disorder of glycosylation, type IIi COG6 98.39 0 Congenital disorder of glycosylation, type IIl COG7 99.66 0 Congenital disorder of glycosylation, type IIe COG8 97.38 0 Congenital disorder of glycosylation, type IIh COL4A1 97.86 0 Porencephaly 1 COL4A2 99.62 0 Porencephaly 2 CERT1 99.15 0 Mental retardation, autosomal dominant 34 COLEC10 99.16 0 Mental retardation, autosomal dominant 34 COLEC11 99.67 0 3MC syndrome 2 COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1 COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7 COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6 COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8 COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4 COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5 COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly CRBN 98.86 0 Mental retardation, autosomal recessive 2 CREBBP 99.62 0 Rubinstein-Taybi syndrome 1 CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome CSPP1 98.95 0 Joubert syndrome 21 CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts CTCF 99.65 0 Mental retardation, autosomal dominant 21 CTNNB1 99.65 0 Mental retardation, autosomal dominant 19 CTSA 99.59 0 Galactosialidosis CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10 CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type) CYB5R3 88.44 0 Methemoglobinemia, type I CYP27A1 97.94 0 Cerebrotendinous xanthomatosis D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DCAF17 93.81 0 Woodhouse-Sakati syndrome DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum DCPS 99.69 0 Al-Raqad syndrome DCX 96.94 0 Lissencephaly, X-linked DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive DDX11 99.66 0 Warsaw breakage syndrome DDX3X 96.52 0 Mental retardation, X-linked 102 DEAF1 92.63 0 Mental retardation, autosomal dominant 24 DHCR24 99.34 0 Desmosterolosis DHCR7 99.68 0 Smith-Lemli-Opitz syndrome DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome DKC1 91.60 0 Dyskeratosis congenita, X-linked DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency DLG3 98.91 0 Mental retardation, X-linked 90 DLL4 99.61 0 Adams-Oliver syndrome 6 DNAJC19 97.60 0 3-methylglutaconic aciduria, type V DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31 DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOCK6 97.92 0 Adams-Oliver syndrome 2 DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair DPM1 99.27 0 Congenital disorder of glycosylation, type Ie DPP6 99.57 0 Mental retardation, autosomal dominant 33 DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13 DYRK1A 99.53 0 Mental retardation, autosomal dominant 7 EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12 EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome EBP 99.89 0 MEND syndrome ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency EDC3 99.68 0 Mental retardation, autosomal recessive 50 EEF1A2 88.74 0 Mental retardation, autosomal dominant 38 EFNB1 99.39 0 Craniofrontonasal dysplasia EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type EHMT1 95.40 0 Kleefstra syndrome EIF2AK3 94.12 0 Wolcott-Rallison syndrome EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation ELP2 98.99 0 Mental retardation, autosomal recessive 58 EML1 96.28 0 Band heterotopia EMX2 99.48 0 Schizencephaly ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive EOGT 99.33 0 Adams-Oliver syndrome 4 EP300 99.56 0 Rubinstein-Taybi syndrome 2 EPB41L1 99.69 0 Mental retardation, autosomal dominant 11 EPG5 99.47 0 Vici syndrome ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2 ERCC3 99.68 0 Xeroderma pigmentosum, group B ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1 ERCC8 99.27 0 Cockayne syndrome, type A ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive ESCO2 98.50 0 Roberts syndrome ETHE1 99.60 0 Ethylmalonic encephalopathy EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B EZH2 99.41 0 Weaver syndrome EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5 FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14 FAT4 99.39 0 Van Maldergem syndrome 2 FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) FBXO31 93.34 0 Mental retardation, autosomal recessive 45 FGD1 98.23 0 Mental retardation, X-linked syndromic 16 FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia FGFR2 99.67 0 Saethre-Chotzen syndrome FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans FH 99.29 0 Fumarase deficiency FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 FLNA 99.73 0 Heterotopia, periventricular FMN2 99.05 0 Mental retardation, autosomal recessive 47 FMR1 94.48 0 Fragile X tremor/ataxia syndrome FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency FOXG1 84.20 0 Rett syndrome, congenital variant FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features FOXP2 99.34 0 Speech-language disorder-1 FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency FRAS1 99.57 0 Fraser syndrome 1 FREM2 99.23 0 Fraser syndrome 2 FRMPD4 96.56 0 Mental retardation, X-linked 104 FTCD 95.82 0 Glutamate formiminotransferase deficiency FTL 99.55 0 Neurodegeneration with brain iron accumulation 3 FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism FTSJ1 99.69 0 Mental retardation, X-linked 9/44 FUCA1 98.18 0 Fucosidosis GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43 GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3 GALT 99.68 0 Galactosemia GAMT 93.42 0 Cerebral creatine deficiency syndrome 2 GAN 98.90 0 Giant axonal neuropathy-1 GATAD2B 99.69 0 Mental retardation, autosomal dominant 18 GATM 94.01 0 Cerebral creatine deficiency syndrome 3 GBE1 98.82 0 Glycogen storage disease IV GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia GCSH 86.02 0 Glycine encephalopathy GDI1 95.21 0 Mental retardation, X-linked 41 GFAP 99.69 0 Alexander disease GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2 GLB1 99.56 0 GM1-gangliosidosis, type I GLDC 97.83 0 Glycine encephalopathy GLI2 98.60 0 Holoprosencephaly 9 GLI3 99.55 0 Greig cephalopolysyndactyly syndrome GLUL 99.68 0 Glutamine deficiency, congenital GLYCTK 99.69 0 D-glyceric aciduria GM2A 99.68 0 GM2-gangliosidosis, AB variant GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 GNAI3 99.08 0 Auriculocondylar syndrome 1 GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17 GNAS 97.96 0 Pseudohypoparathyroidism Ia GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2 GNPTAB 99.49 0 Mucolipidosis II alpha/beta GNPTG 90.19 0 Mucolipidosis III gamma GNS 99.55 0 Mucopolysaccharidosis type IIID GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1 GPHN 99.58 0 Molybdenum cofactor deficiency C GPSM2 99.10 0 Chudley-McCullough syndrome GPT2 95.20 0 Mental retardation, autosomal recessive 49 GRIA3 89.99 0 Mental retardation, X-linked 94 GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18 GRIK2 99.13 0 Mental retardation, autosomal recessive, 6 GRIN1 99.54 0 Mental retardation, autosomal dominant 8 GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation GRIN2B 99.66 0 Mental retardation, autosomal dominant 6 GRIP1 99.65 0 Fraser syndrome 3 GRM1 99.46 0 Spinocerebellar ataxia 44 GSS 99.59 0 Glutathione synthetase deficiency GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23 GUSB 98.73 0 Mucopolysaccharidosis VII HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24 HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID HDAC8 99.17 0 Cornelia de Lange syndrome 5 HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation HERC2 99.66 0 Mental retardation, autosomal recessive 38 HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies HEXA 99.67 0 Tay-Sachs disease HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C) HIVEP2 99.60 0 Mental retardation, autosomal dominant 43 HLCS 99.60 0 Holocarboxylase synthetase deficiency HNMT 99.26 0 Mental retardation, autosomal recessive 51 HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type HNRNPK 99.17 0 Au-Kline syndrome HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54 HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome HPRT1 75.78 0 Lesch-Nyhan syndrome HRAS 99.69 0 Costello syndrome HSD17B10 99.97 0 HSD10 mitochondrial disease HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia IDS 97.07 0 Mucopolysaccharidosis II IDUA 77.72 0 Mucopolysaccharidosis Ih/s IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome IFIH1 99.07 0 Aicardi-Goutieres syndrome 7 IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly IFT27 99.69 0 Bardet-Biedl syndrome 19 IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34 INPP5E 98.14 0 Joubert syndrome 1 INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome IQSEC2 97.05 0 Mental retardation, X-linked 1/78 IRX5 89.09 0 Hamamy syndrome CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts KANSL1 99.63 0 Koolen-De Vries syndrome KAT6A 99.60 0 Mental retardation, autosomal dominant 32 KAT6B 99.21 0 Genitopatellar syndrome KCNC1 99.05 0 Epilepsy, progressive myoclonic 7 KCNC3 76.28 0 Spinocerebellar ataxia 13 KCNH1 98.56 0 Temple-Baraitser syndrome KCNJ10 99.68 0 SESAME syndrome KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7 KCNQ5 96.45 0 Mental retardation, autosomal dominant 46 KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14 KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type KDM6A 94.07 0 Kabuki syndrome 2 KIAA0586 92.34 0 Joubert syndrome 23 KIAA0753 99.23 0 Orofaciodigital syndrome XV NEXMIF 97.66 0 Mental retardation, X-linked 98 KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation KIF1A 99.66 0 Mental retardation, autosomal dominant 9 KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome KIF4A 99.41 0 Mental retardation, X-linked 100 KIF5A 99.35 0 Myoclonus, intractable, neonatal KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2 KIF7 99.42 0 Joubert syndrome 12 KIRREL3 99.66 0 Mental retardation, autosomal dominant 4 KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy KMT2A 97.93 0 Wiedemann-Steiner syndrome KMT2C 99.31 0 Kleefstra syndrome 2 KMT2D 99.67 0 Kabuki syndrome 1 KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive KPTN 99.37 0 Mental retardation, autosomal recessive 41 KRAS 99.32 0 Noonan syndrome 3 L1CAM 99.66 0 CRASH syndrome L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria LAMA1 99.13 0 Poretti-Boltshauser syndrome LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency LAMB1 99.50 0 Lissencephaly 5 LAMC3 97.99 0 Cortical malformations, occipital LAMP2 93.32 0 Danon disease LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 LARP7 97.40 0 Alazami syndrome LAS1L 99.76 0 Wilson-Turner syndrome LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures LIG4 99.55 0 LIG4 syndrome LINS1 98.65 0 Mental retardation, autosomal recessive 27 LIPT1 98.69 0 Lipoyltransferase 1 deficiency LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR LRP2 99.40 0 Donnai-Barrow syndrome LZTFL1 98.67 0 Bardet-Biedl syndrome 17 LZTR1 99.56 0 Noonan syndrome 10 MAGEL2 98.06 0 Schaaf-Yang syndrome MAN1B1 98.88 0 Mental retardation, autosomal recessive 15 MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II MANBA 99.01 0 Mannosidosis, beta MAOA 85.51 0 Brunner syndrome MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3 MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4 MASP1 99.59 0 3MC syndrome 1 MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MBD5 99.52 0 Mental retardation, autosomal dominant 1 MBOAT7 99.50 0 Mental retardation, autosomal recessive 57 MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCOLN1 93.43 0 Mucolipidosis IV MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive MECP2 89.77 0 Rett syndrome MED12 99.82 0 Opitz-Kaveggia syndrome MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy MED23 98.87 0 Mental retardation, autosomal recessive 18 MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation METTL23 99.62 0 Mental retardation, autosomal recessive 44 MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7 MID1 97.46 0 Opitz GBBB syndrome, type I MKKS 99.58 0 Bardet-Biedl syndrome 6 MKS1 99.54 0 Bardet-Biedl syndrome 13 MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type MOCS1 99.68 0 Molybdenum cofactor deficiency A MOCS2 99.48 0 Molybdenum cofactor deficiency B MOGS 92.25 0 Congenital disorder of glycosylation, type IIb MPDU1 99.69 0 Congenital disorder of glycosylation, type If MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2 MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15 MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency MTM1 94.11 0 Myotubular myopathy, X-linked MTOR 99.61 0 Smith-Kingsmore syndrome MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type MVK 99.69 0 Mevalonic aciduria MYCN 82.91 0 Feingold syndrome 1 MYO5A 97.60 0 Griscelli syndrome, type 1 MYT1L 99.59 0 Mental retardation, autosomal dominant 39 NAA10 87.47 0 Ogden syndrome NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination NAGA 99.67 0 Schindler disease, type I NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B) NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24 NBN 98.67 0 Nijmegen breakage syndrome NDE1 99.69 0 Lissencephaly 4 (with microcephaly) NDP 99.56 0 Norrie disease NDST1 99.67 0 Mental retardation, autosomal recessive 46 NDUFA1 97.69 0 Mitochondrial complex I deficiency NDUFA11 99.69 0 Mitochondrial complex I deficiency NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFS2 99.25 0 Mitochondrial complex I deficiency NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFS4 99.05 0 Mitochondrial complex I deficiency NDUFS7 99.38 0 Leigh syndrome NEDD4L 98.92 0 Periventricular nodular heterotopia 7 NFIA 99.44 0 Brain malformations and urinary tract defects NFIX 99.64 0 Sotos syndrome 2 NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2 NHS 88.25 0 Nance-Horan syndrome NIN 99.20 0 Seckel syndrome 7 NIPBL 98.53 0 Cornelia de Lange syndrome 1 NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress NONO 98.37 0 Mental retardation, X-linked, syndromic 34 NOTCH1 96.74 0 Adams-Oliver syndrome 5 NPC1 98.34 0 Niemann-Pick disease, type C1 NPC2 99.67 0 Niemann-pick disease, type C2 NPHP1 99.24 0 Joubert syndrome 4 NPHP3 98.15 0 Meckel syndrome 7 NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome NR5A1 99.25 0 Adrenocortical insufficiency NRAS 99.61 0 Noonan syndrome 6 NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2 NSD1 99.26 0 Sotos syndrome 1 NSDHL 99.39 0 CHILD syndrome NSUN2 95.86 0 Mental retardation, autosomal recessive 5 OCLN 99.47 0 Pseudo-TORCH syndrome 1 OCRL 92.17 0 Lowe syndrome OFD1 92.99 0 Orofaciodigital syndrome I OGT 96.41 0 Mental retardation, X-linked 106 OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance ORC1 99.49 0 Meier-Gorlin syndrome 1 ORC4 98.60 0 Meier-Gorlin syndrome 2 ORC6 98.10 0 Meier-Gorlin syndrome 3 OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome OTC 92.10 0 Ornithine transcarbamylase deficiency OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PACS1 97.17 0 Schuurs-Hoeijmakers syndrome PAFAH1B1 98.98 0 Lissencephaly 1 PAH 99.66 0 Phenylketonuria PAK3 87.10 0 Mental retardation, X-linked 30/47 PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1 PAX1 82.57 0 Otofaciocervical syndrome 2 PAX3 99.68 0 Craniofacial-deafness-hand syndrome PAX6 99.51 0 Aniridia PC 99.69 0 Pyruvate carboxylase deficiency PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9 PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2 PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3 PEPD 99.61 0 Prolidase deficiency PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger) PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger) PEX11B 99.63 0 Peroxisome biogenesis disorder 14B PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger) PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger) PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger) PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger) PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger) PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger) PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger) PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger) PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger) PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger) PEX7 90.36 0 Peroxisome biogenesis disorder 9B PGAP1 97.25 0 Mental retardation, autosomal recessive 42 PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3 PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4 PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGG 99.54 0 Mental retardation, autosomal recessive 53 PIGL 99.59 0 CHIME syndrome PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2 PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1 PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5 PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6 PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12 PLCB4 99.09 0 Auriculocondylar syndrome 2 PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI PLP1 99.86 0 Pelizaeus-Merzbacher disease PMM2 98.47 0 Congenital disorder of glycosylation, type Ia PNKP 99.68 0 Microcephaly, seizures, and developmental delay PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis POGZ 98.81 0 White-Sutton syndrome POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type) POLH 99.55 0 Xeroderma pigmentosum, variant type POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 PORCN 99.91 0 Focal dermal hypoplasia PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2 PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36 PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35 PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1 PQBP1 99.90 0 Renpenning syndrome PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures PRPS1 98.61 0 Arts syndrome PRSS12 98.69 0 Mental retardation, autosomal recessive 1 PSAP 99.68 0 Krabbe disease, atypical PSMD12 99.44 0 Stankiewicz-Isidor syndrome PTCH1 97.64 0 Holoprosencephaly 7 PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4 PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism PTEN 98.68 0 Cowden syndrome 1 PTPN11 97.30 0 LEOPARD syndrome 1 PUF60 99.56 0 Verheij syndrome PURA 84.89 0 Mental retardation, autosomal dominant 31 PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1 PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C RAB18 98.43 0 Warburg micro syndrome 3 RAB27A 95.80 0 Griscelli syndrome, type 2 RAB39B 99.96 0 Mental retardation, X-linked 72 RAB3GAP1 99.24 0 Warburg micro syndrome 1 RAB3GAP2 99.14 0 Martsolf syndrome RAC1 87.43 0 Mental retardation, autosomal dominant 48 RAD21 99.34 0 Cornelia de Lange syndrome 4 RAF1 99.65 0 Noonan syndrome 5 RAI1 97.85 0 Smith-Magenis syndrome RARB 99.52 0 Microphthalmia, syndromic 12 RARS2 99.20 0 Pontocerebellar hypoplasia, type 6 RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie RAX 78.51 0 Microphthalmia, isolated 3 RBBP8 96.69 0 Seckel syndrome 2 RBM10 99.86 0 TARP syndrome RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome RBPJ 99.36 0 Adams-Oliver syndrome 3 RECQL4 91.13 0 Baller-Gerold syndrome RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type) RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart RFT1 97.48 0 Congenital disorder of glycosylation, type In RIT1 99.66 0 Noonan syndrome 8 RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11 RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4 RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2 RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3 RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive ROGDI 90.00 0 Kohlschutter-Tonz syndrome RPGRIP1L 95.44 0 Joubert syndrome 7 RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency RPS6KA3 85.79 0 Coffin-Lowry syndrome RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5 RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5 SATB2 99.46 0 Glass syndrome SC5D 99.08 0 Lathosterolosis SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11 SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13 SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 SDCCAG8 99.19 0 Bardet-Biedl syndrome 16 SDHAF1 66.11 0 Mitochondrial complex II deficiency SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SETBP1 98.39 0 Mental retardation, autosomal dominant 29 SETD2 99.30 0 Luscan-Lumish syndrome SETD5 99.55 0 Mental retardation, autosomal dominant 23 SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A) SHANK2 83.77 0 Autism susceptibility 17 SHANK3 78.63 0 Phelan-McDermid syndrome SHH 90.25 0 Holoprosencephaly 3 SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome SIL1 99.65 0 Marinesco-Sjogren syndrome SIN3A 99.56 0 Witteveen-Kolk syndrome SIX3 89.54 0 Holoprosencephaly 2 SKI 93.23 0 Shprintzen-Goldberg syndrome SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome SLC17A5 98.53 0 Salla disease SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39 SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A19 99.66 0 Microcephaly, Amish type SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3 SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features SLC46A1 97.75 0 Folate malabsorption, hereditary SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities SLC6A1 99.61 0 Myoclonic-atonic epilepsy SLC6A17 99.68 0 Mental retardation, autosomal recessive 48 SLC6A3 99.68 0 Parkinsonism-dystonia, infantile SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1 SLC7A7 99.67 0 Lysinuric protein intolerance SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type SMARCA2 97.63 0 Nicolaides-Baraitser syndrome SMARCA4 99.68 0 Coffin-Siris syndrome 4 SMARCB1 99.47 0 Coffin-Siris syndrome 3 SMARCE1 98.87 0 Coffin-Siris syndrome 5 SMC1A 97.41 0 Cornelia de Lange syndrome 2 SMC3 98.62 0 Cornelia de Lange syndrome 3 SMOC1 98.99 0 Microphthalmia with limb anomalies SMPD1 99.68 0 Niemann-Pick disease, type A SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20 SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus SON 99.42 0 ZTTK syndrome SOS1 98.22 0 Noonan syndrome 4 SOS2 98.32 0 Noonan syndrome 9 SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement SOX11 84.37 0 Mental retardation, autosomal dominant, 27 SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system SOX5 99.56 0 Lamb-Shaffer syndrome AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome SPECC1L 99.49 0 Opitz GBBB syndrome, type II SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency SPRED1 99.22 0 Legius syndrome SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5 SRCAP 99.65 0 Floating-Harbor syndrome SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12 ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome STAG1 98.01 0 Mental retardation, autosomal dominant 47 STAMBP 99.58 0 Microcephaly-capillary malformation syndrome STIL 99.24 0 Microcephaly 7, primary, autosomal recessive STRA6 99.67 0 Microphthalmia, syndromic 9 STT3A 99.55 0 Congenital disorder of glycosylation, type Iw STT3B 95.54 0 Congenital disorder of glycosylation, type Ix STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9 STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4 SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUOX 99.68 0 Sulfite oxidase deficiency SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8 SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5 SYP 93.14 0 Mental retardation, X-linked 96 SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11 TAF1 97.05 0 Mental retardation, X-linked, syndromic 33 TAF2 98.57 0 Mental retardation, autosomal recessive 40 TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11 TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16 TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41 TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie TCF4 99.65 0 Pitt-Hopkins syndrome TCOF1 99.61 0 Treacher Collins syndrome 1 TCTN1 99.08 0 Joubert syndrome 13 TCTN2 99.05 0 Joubert syndrome 24 TCTN3 99.61 0 Joubert syndrome 18 TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive TECR 99.69 0 Mental retardation, autosomal recessive 14 TFAP2A 99.48 0 Branchiooculofacial syndrome TGIF1 99.69 0 Holoprosencephaly 4 TH 98.57 0 Segawa syndrome, recessive THOC2 91.08 0 Mental retardation, X-linked 12/35 THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6 TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3 TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome TMEM107 99.69 0 Orofaciodigital syndrome XVI TMEM138 99.68 0 Joubert syndrome 16 TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk TMEM216 99.69 0 Joubert syndrome 2 TMEM231 99.62 0 Joubert syndrome 20 TMEM237 97.88 0 Joubert syndrome 14 TMEM67 97.57 0 Joubert syndrome 6 TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7 TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13 TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive TRIM32 99.68 0 Bardet-Biedl syndrome 11 TRIO 97.17 0 Mental retardation, autosomal dominant 44 TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1 TRMU 94.99 0 Liver failure, transient infantile TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3 TSPAN7 98.69 0 Mental retardation, X-linked 58 SKIC3 99.17 0 Trichohepatoenteric syndrome 1 TTC8 98.67 0 Bardet-Biedl syndrome 8 TTI2 99.57 0 Mental retardation, autosomal recessive 39 TUBA1A 99.69 0 Lissencephaly 3 TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8 TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5 TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7 TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1 TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6 TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4 TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1 TUSC3 99.45 0 Mental retardation, autosomal recessive 7 TWIST1 59.51 0 Saethre-Chotzen syndrome UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type UBE3A 98.84 0 Angelman syndrome UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome UBR1 98.99 0 Johanson-Blizzard syndrome UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14 UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4 UROC1 99.69 0 Urocanase deficiency USP18 99.69 0 Pseudo-TORCH syndrome 2 USP9X 93.59 0 Mental retardation, X-linked 99 VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 VPS13B 98.95 0 Cohen syndrome VRK1 99.08 0 Pontocerebellar hypoplasia type 1A WAC 97.24 0 Desanto-Shinawi syndrome WDPCP 98.77 0 Bardet-Biedl syndrome 15 WDR26 99.46 0 Skraban-Deardorff syndrome WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5 WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations WDR73 99.54 0 Galloway-Mowat syndrome WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28 XPA 95.49 0 Xeroderma pigmentosum, group A XPC 99.66 0 Xeroderma pigmentosum, group C XYLT1 91.40 0 Desbuquois dysplasia 2 YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation YY1 97.61 0 Gabriele-de Vries syndrome ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation ZBTB18 99.10 0 Mental retardation, autosomal dominant 22 ZBTB20 99.63 0 Primrose syndrome ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 ZC4H2 97.81 0 Wieacker-Wolff syndrome ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type ZEB2 99.54 0 Mowat-Wilson syndrome ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive ZIC2 67.20 0 Holoprosencephaly 5 ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy ZMYND11 99.50 0 Mental retardation, autosomal dominant 30 ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation ZNF711 89.61 0 Mental retardation, X-linked 97 -
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 -
Movement Disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.99 1 ACTB 100.00 1 ACTL6B 99.90 1 ADAR 99.84 1 ADCY5 99.98 1 ADH1C 99.94 1 AFG3L2 99.97 1 ALDH5A1 96.19 1 ANO3 99.98 1 AP3D1 100.00 1 AP4M1 99.98 1 APTX 99.92 1 ARSA 99.99 1 ARV1 99.85 1 ARX 95.36 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP6AP2 99.55 1 ATP7B 100.00 1 ATP8A2 100.00 1 ATXN2 99.88 1 AUH 99.95 1 BCAP31 99.95 1 BCS1L 99.99 1 C19ORF12 99.99 1 CACNA1A 99.98 1 CACNA1B 100.00 1 CACNA1E 99.82 1 CARS2 99.99 1 CHCHD2 99.89 1 CHMP2B 99.80 1 CHRNA4 100.00 1 CHRNB2 99.99 1 CIZ1 99.94 1 CLPB 99.97 1 CNTNAP1 99.98 1 COASY 99.98 1 COL6A3 99.99 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 CP 99.95 1 CRAT 99.99 1 CSF1R 99.92 1 CTC1 100.00 1 CYP27A1 100.00 1 DCAF17 99.84 1 DCTN1 99.98 1 DDC 99.67 1 DEGS1 99.99 1 DHDDS 98.65 1 DHX30 99.96 1 DLAT 99.65 1 DLD 99.89 1 DMXL2 99.86 1 DNAJC13 99.86 1 DNAJC5 99.99 1 DNAJC6 99.48 1 DNAL4 99.89 1 DRD3 100.00 1 EARS2 99.96 1 ECHS1 100.00 1 EEF1A2 100.00 1 EIF4G1 100.00 1 EPRS1 99.53 1 ETHE1 84.97 1 FA2H 99.98 1 FASTKD2 99.93 1 FBXO7 99.98 1 FITM2 99.99 1 FOXG1 99.91 1 FOXRED1 100.00 1 FTL 99.99 1 FUCA1 98.72 1 FUS 99.93 1 GABRB2 99.92 1 GAMT 100.00 1 GBA1 96.92 1 GBE1 99.73 1 GCDH 100.00 1 GCH1 99.94 1 GFAP 99.99 1 GFM2 99.87 1 GIGYF2 99.94 1 GJC2 100.00 1 GLB1 100.00 1 GRID2 100.00 1 GM2A 100.00 1 GNAL 100.00 1 GNAO1 99.86 1 GNB1 100.00 1 GPR88 100.00 1 GRIN1 100.00 1 GRIN2B 99.99 1 GRN 100.00 1 GSX2 100.00 1 GTPBP2 99.98 1 HEXA 99.99 1 HIBCH 99.70 1 HPRT1 97.80 1 HSD17B10 99.98 1 HTRA2 99.99 1 HTT 99.98 1 IFIH1 99.84 1 IREB2 99.90 1 IRF2BPL 99.21 1 JAM2 91.82 1 JPH3 100.00 1 KCNA4 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD17 100.00 1 KMT2B 99.99 1 LIPT1 99.89 1 LIPT2 99.99 1 LRP10 99.99 1 LRPPRC 99.80 1 LRRK2 99.44 1 LYST 99.87 1 MAPT 99.80 1 MAT1A 99.70 1 MCOLN1 100.00 1 MDH2 99.54 1 MECP2 99.95 1 MECR 99.63 1 MED20 99.99 1 MICU1 99.56 1 MMADHC 99.76 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MYBPC1 99.77 1 MYORG 99.99 1 NAXD 99.99 1 NDUFA1 99.93 1 NDUFA10 99.98 1 NDUFA12 99.21 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NDUFS8 100.00 1 NHLRC2 99.83 1 NKX2-1 100.00 1 NKX6-2 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NTNG2 99.98 1 NUP62 100.00 1 PANK2 99.99 1 PARK7 99.93 1 PCCA 99.90 1 PCCB 99.97 1 PCDH12 100.00 1 PCDH19 99.98 1 PDE10A 87.37 1 PDE8B 99.98 1 PDGFB 99.99 1 PDGFRB 99.99 1 PDHA1 99.04 1 PDHX 99.64 1 PEAR1 99.89 1 PEX16 99.94 1 PINK1 99.69 1 PLA2G6 99.98 1 PLEKHG2 99.99 1 PLP1 99.98 1 PMPCB 99.94 1 PNKD 100.00 1 PNKP 100.00 1 PNPLA8 99.92 1 PNPT1 99.56 1 PODXL 93.29 1 POLG 100.00 1 POLR3A 99.97 1 PON1 99.70 1 PRKN 99.99 1 PRKRA 99.94 1 PRNP 100.00 1 PRRT2 99.97 1 PTRHD1 100.00 1 PTS 99.93 1 QDPR 99.92 1 RAB11B 100.00 1 RAB39B 99.99 1 RAD51 90.17 1 RELN 99.98 1 REPS1 99.93 1 RHOBTB2 100.00 1 RIC3 100.00 1 RNF216 99.99 1 SCN11A 99.94 1 SCN4A 99.98 1 SCN8A 99.77 1 SCP2 94.94 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SERAC1 99.90 1 SETX 99.97 1 SGCE 93.12 1 SLC18A2 100.00 1 SLC19A3 99.95 1 SLC20A2 99.95 1 SLC25A42 99.99 1 SLC2A1 99.93 1 SLC30A10 99.99 1 SLC30A9 99.75 1 SLC39A14 92.87 1 SLC44A1 99.90 1 SLC6A3 99.96 1 SLC6A8 99.99 1 SMPD1 100.00 1 SNCA 99.97 1 SNCAIP 99.99 1 SPG11 99.89 1 SPR 99.99 1 SQSTM1 100.00 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SYNJ1 99.91 1 SYT1 99.70 1 TAF1 99.84 1 TANGO2 99.85 1 TBC1D24 100.00 1 TENM4 99.99 1 TH 99.99 1 THAP1 99.96 1 TIMM8A 100.00 1 TOR1A 100.00 1 TPI1 99.95 1 TPK1 99.96 1 TRAK1 99.98 1 TRAPPC11 99.93 1 TRAPPC12 99.96 1 TRIT1 99.25 1 TSEN2 99.98 1 TSFM 100.00 1 TUBB4A 100.00 1 TXN2 99.88 1 UBA5 99.95 1 UBTF 99.99 1 UCHL1 99.99 1 UFM1 99.25 1 UGDH 99.77 1 UQCRQ 99.96 1 VAC14 99.91 1 VAMP2 100.00 1 VCP 99.99 1 VPS13A 99.68 1 VPS13C 99.65 1 VPS13D 99.96 1 VPS16 100.00 1 VPS35 99.83 1 WARS2 97.72 1 WDR45 99.99 1 WDR73 99.92 1 XK 99.98 1 XPR1 99.13 1 YY1 100.00 1 ZC4H2 99.98 1 ZNF142 100.00 1 -
Movement Disorders - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 ABAT 100.00 0 ACTB 100.00 0 ACTL6B 100.00 0 ADAR 100.00 0 ADCY5 94.82 0 ADPRS 97.19 0 AFG3L2 95.73 0 AGTPBP1 97.48 0 AIMP1 100.00 0 ALDH5A1 91.82 0 ALG13 99.52 0 ALG6 100.00 0 ALS2 100.00 0 AMT 100.00 0 ANO3 99.99 0 AOPEP 98.17 0 AP3D1 100.00 0 AP4M1 100.00 0 AP5Z1 100.00 0 APTX 100.00 0 ARG1 100.00 0 ARHGEF9 100.00 0 ARSA 100.00 0 ARV1 100.00 0 ARX 76.27 0 ASAH1 100.00 0 ASNS 100.00 0 ASS1 100.00 0 ATAD1 100.00 0 ATCAY 100.00 0 ATM 100.00 0 ATN1 100.00 0 ATP13A2 99.13 0 ATP1A2 99.91 0 ATP1A3 100.00 0 ATP6AP2 98.93 0 ATP7B 100.00 0 ATP8A2 100.00 0 ATXN2 97.08 0 AUH 98.84 0 BCAP31 100.00 0 BCKDHA 100.00 0 BCKDHB 100.00 0 BCS1L 100.00 0 BSCL2 100.00 0 BTK 100.00 0 C19ORF12 100.00 0 C9ORF72 100.00 0 CA8 100.00 0 CACNA1A 100.00 0 CACNA1B 95.99 0 CACNA1E 99.97 0 CACNA1G 100.00 0 CACNB4 100.00 0 CARS2 95.22 0 CBS 100.00 0 CDKL5 99.33 0 CEP290 99.99 0 CHCHD2 100.00 0 CHMP2B 100.00 0 CHRNA2 99.97 0 CHRNA4 99.98 0 CHRNB2 100.00 0 CIZ1 99.96 0 CLCN2 100.00 0 CLCN3 100.00 0 CLCN6 100.00 0 CLPB 100.00 0 CLTC 100.00 0 CNTNAP1 100.00 0 COASY 100.00 0 COL6A3 100.00 0 COQ8A 100.00 0 COQ9 100.00 0 COX10 100.00 0 COX15 100.00 0 COX20 100.00 0 CP 99.98 0 CRAT 100.00 0 CRH 100.00 0 CRLF1 89.13 0 CSF1R 100.00 0 CSTB 100.00 0 CTC1 100.00 0 CTDP1 90.20 0 CTNNB1 100.00 0 CTSA 100.00 0 CTSD 100.00 0 CTSF 89.18 0 CUL4B 98.64 0 CWF19L1 100.00 0 CYB5R3 95.77 0 CYFIP2 100.00 0 CYP27A1 99.38 0 DARS1 100.00 0 DBT 100.00 0 DCAF17 99.11 0 DCC 100.00 0 DCTN1 100.00 0 DDC 100.00 0 DEGS1 100.00 0 DEPDC5 100.00 0 DHDDS 100.00 0 DHX30 100.00 0 DLAT 100.00 0 DLD 100.00 0 DMXL2 99.99 0 DNAJB2 100.00 0 DNAJC12 100.00 0 DNAJC13 100.00 0 DNAJC19 100.00 0 DNAJC5 100.00 0 DNAJC6 100.00 0 DNAL4 100.00 0 DNM1L 100.00 0 DNMT1 99.83 0 EARS2 100.00 0 ECHS1 100.00 0 EEF1A2 98.47 0 ELOVL4 100.00 0 EPRS1 100.00 0 ETHE1 100.00 0 FA2H 92.84 0 FARS2 100.00 0 FASTKD2 100.00 0 FBXL4 100.00 0 FBXO7 100.00 0 FGF14 100.00 0 FITM2 100.00 0 FOLR1 100.00 0 FOXG1 87.63 0 FOXRED1 100.00 0 FRRS1L 87.33 0 FTL 100.00 0 FUCA1 99.67 0 FUS 100.00 0 FXN 96.07 0 GABRA2 100.00 0 GABRB2 100.00 0 GALT 100.00 0 GAMT 98.07 0 GBA1 100.00 0 GBE1 100.00 0 GCDH 100.00 0 GCH1 98.16 0 GFAP 100.00 0 GFM1 100.00 0 GFM2 99.99 0 GJC2 88.27 0 GLB1 100.00 0 GLDC 97.21 0 GLRA1 100.00 0 GLRB 100.00 0 GM2A 100.00 0 GNAL 100.00 0 GNAO1 100.00 0 GNB1 100.00 0 GOSR2 100.00 0 GPHN 100.00 0 GPR88 77.04 0 GRID2 100.00 0 GRIN1 100.00 0 GRIN2B 100.00 0 GRN 100.00 0 GSX2 100.00 0 GTPBP2 99.48 0 HECW2 100.00 0 HEXA 100.00 0 HEXB 99.87 0 HIBCH 100.00 0 HPRT1 97.15 0 HSD17B10 100.00 0 HTT 99.18 0 IFIH1 100.00 0 IREB2 100.00 0 IRF2BPL 99.88 0 IVD 100.00 0 JAM2 100.00 0 JPH3 100.00 0 KCNA1 100.00 0 KCNA2 100.00 0 KCNA4 100.00 0 KCNC3 78.67 0 KCND3 100.00 0 KCNMA1 100.00 0 KCNQ2 100.00 0 KCNT1 99.92 0 KCTD17 95.63 0 KCTD7 99.64 0 KIF1C 100.00 0 KIF5A 100.00 0 KMT2B 96.75 0 L2HGDH 100.00 0 LIAS 100.00 0 LIPT1 100.00 0 LIPT2 92.08 0 LMNB1 98.51 0 LRPPRC 100.00 0 LRRK2 100.00 0 LYST 100.00 0 MAPT 100.00 0 MARS2 100.00 0 MCEE 100.00 0 MCOLN1 98.10 0 MDH2 100.00 0 MECP2 100.00 0 MECR 100.00 0 MED20 100.00 0 MEF2C 100.00 0 MFSD8 100.00 0 MICU1 100.00 0 MMAA 100.00 0 MMAB 100.00 0 MMADHC 100.00 0 MMUT 100.00 0 MPV17 100.00 0 MRE11 100.00 0 MRPS34 99.28 0 MTHFR 100.00 0 MTR 100.00 0 MTRFR 100.00 0 MTRR 100.00 0 MYBPC1 100.00 0 MYORG 100.00 0 NALCN 100.00 0 NAXD 100.00 0 NDUFA1 100.00 0 NDUFA10 99.52 0 NDUFA12 100.00 0 NDUFA2 100.00 0 NDUFA9 100.00 0 NDUFAF2 100.00 0 NDUFAF4 100.00 0 NDUFAF5 100.00 0 NDUFAF6 95.34 0 NDUFS1 100.00 0 NDUFS3 100.00 0 NDUFS4 100.00 0 NDUFS7 100.00 0 NDUFS8 100.00 0 NDUFV1 100.00 0 NEU1 100.00 0 NGLY1 100.00 0 NHLRC2 100.00 0 NKX2-1 89.99 0 NKX6-2 70.62 0 NPC1 100.00 0 NPC2 100.00 0 NTN1 94.10 0 NTNG2 91.87 0 NUP62 100.00 0 MED12 100.00 0 OPA3 100.00 0 PAH 100.00 0 PANK2 95.70 0 PARK7 100.00 0 PODXL 96.85 0 PCBD1 92.74 0 PCCA 100.00 0 PCCB 100.00 0 PCDH12 100.00 0 PCDH19 100.00 0 PDE10A 100.00 0 PDE2A 100.00 0 PDE8B 97.56 0 PDGFB 100.00 0 PDGFRB 100.00 0 PDHA1 100.00 0 PDHB 100.00 0 PDHX 100.00 0 PDYN 100.00 0 PEX16 100.00 0 PGK1 100.00 0 PIGP 100.00 0 PINK1 91.10 0 PLA2G6 100.00 0 PLEKHG2 100.00 0 PLP1 100.00 0 PMM2 100.00 0 PMPCB 100.00 0 PNKD 100.00 0 PNKP 100.00 0 PNPLA8 100.00 0 PNPT1 100.00 0 POLG 100.00 0 POLR1C 100.00 0 POLR3A 100.00 0 PPT1 100.00 0 PRICKLE1 100.00 0 PRKCG 100.00 0 PRKN 100.00 0 PRKRA 100.00 0 PRNP 100.00 0 PRRT2 100.00 0 PTRHD1 100.00 0 PTS 100.00 0 PUM1 100.00 0 PURA 88.25 0 QDPR 99.38 0 RAB11B 100.00 0 RAB39B 100.00 0 RAD51 100.00 0 RELN 100.00 0 REPS1 100.00 0 RHOBTB2 100.00 0 RNF216 100.00 0 SACS 100.00 0 SCARB2 100.00 0 SCN11A 99.99 0 SCN1A 100.00 0 SCN2A 100.00 0 SCN4A 100.00 0 SCN8A 100.00 0 SCP2 100.00 0 SCYL1 100.00 0 SDHA 98.70 0 SDHAF1 96.31 0 SDHD 100.00 0 SEPSECS 100.00 0 SERAC1 100.00 0 SETD5 100.00 0 SETX 100.00 0 SGCE 100.00 0 SLC16A2 100.00 0 SLC18A2 100.00 0 SLC19A3 99.96 0 SLC1A3 100.00 0 SLC20A2 100.00 0 SLC25A19 100.00 0 SLC25A42 99.96 0 SLC2A1 100.00 0 SLC30A10 100.00 0 SLC30A9 100.00 0 SLC39A14 99.95 0 SLC39A8 99.72 0 SLC44A1 97.36 0 SLC6A1 100.00 0 SLC6A3 100.00 0 SLC6A5 100.00 0 SLC6A8 96.54 0 SLC9A6 97.84 0 SMPD1 100.00 0 SNCA 100.00 0 SPG11 100.00 0 SPOP 100.00 0 SPR 97.94 0 SPTBN2 100.00 0 SQSTM1 95.44 0 SRD5A3 98.74 0 ST3GAL5 92.43 0 STUB1 99.46 0 STXBP1 100.00 0 SUCLA2 100.00 0 SUCLG1 99.97 0 SUMF1 100.00 0 SUOX 100.00 0 SURF1 92.90 0 SYNE1 100.00 0 SYNJ1 100.00 0 SYT1 100.00 0 TACO1 99.96 0 TAF1 100.00 0 TANGO2 100.00 0 TARDBP 100.00 0 TBC1D24 100.00 0 TBK1 100.00 0 TBL1XR1 100.00 0 TENM4 100.00 0 TGM6 100.00 0 TH 100.00 0 THAP1 100.00 0 TIMM8A 100.00 0 TMEM240 100.00 0 TOR1A 100.00 0 TPI1 100.00 0 TPK1 100.00 0 TRAK1 100.00 0 TRAPPC11 100.00 0 TRAPPC12 100.00 0 TREM2 100.00 0 TRIT1 100.00 0 TSC1 100.00 0 TSC2 100.00 0 TSEN2 100.00 0 TSEN54 94.95 0 TSFM 92.64 0 TTPA 87.42 0 TUBB4A 100.00 0 TXN2 100.00 0 TYROBP 100.00 0 UBA5 100.00 0 UBQLN2 99.91 0 UBR4 99.78 0 UBTF 100.00 0 UFM1 100.00 0 UGDH 100.00 0 UNC13A 99.92 0 UQCRQ 100.00 0 VAC14 100.00 0 VAMP1 100.00 0 VAMP2 100.00 0 VCP 98.45 0 VPS13A 100.00 0 VPS13C 100.00 0 VPS13D 100.00 0 VPS16 100.00 0 VPS35 100.00 0 VPS41 100.00 0 VPS4A 100.00 0 VWA3B 100.00 0 WARS2 100.00 0 WDR45 100.00 0 WDR73 100.00 0 WDR81 100.00 0 WWOX 100.00 0 XK 99.86 0 XPA 99.77 0 XPC 100.00 0 XPR1 100.00 0 YY1 100.00 0 ZC4H2 100.00 0 ZFYVE26 100.00 0 ZNF142 100.00 0 -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Periodic Fever (88 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACP5 0.00 0 , ADAM17 0.00 0 , ADAR 0.00 0 , AP1S3 0.00 0 , CARD14 0.00 0 , CASP1 0.00 0 , CASP10 0.00 0 , CDC42 0.00 0 , CEBPE 0.00 0 , ADA2 0.00 0 , COPA 0.00 0 , RIGI 0.00 0 , DNASE2 0.00 0 , DOCK8 0.00 0 , ELF4 0.00 0 , ADGRE2 0.00 0 , F12 0.00 0 , OTULIN 0.00 0 , FAS 0.00 0 , FASLG 0.00 0 , FBLIM1 0.00 0 , HMOX1 0.00 0 , IFIH1 0.00 0 , IKBKG 0.00 0 , IL10 0.00 0 , IL10RA 0.00 0 , IL10RB 0.00 0 , IL1RN 0.00 0 , IL36RN 0.00 0 , LACC1 0.00 0 , LPIN2 0.00 0 , LSM11 0.00 0 , LYN 0.00 0 , MDFIC 0.00 0 , MEFV 0.00 0 , MVK 0.00 0 , NCKAP1L 0.00 0 , NCSTN 0.00 0 , NLRC4 0.00 0 , NLRP1 0.00 0 , NLRP12 0.00 0 , NLRP3 0.00 0 , NLRP7 0.00 0 , NOD2 0.00 0 , PLCG2 0.00 0 , POLA1 0.00 0 , POMP 0.00 0 , PSENEN 0.00 0 , PSMA3 0.00 0 , PSMB10 0.00 0 , PSMB4 0.00 0 , PSMB8 0.00 0 , PSMB9 0.00 0 , PSMG2 0.00 0 , PSTPIP1 0.00 0 , PTEN 0.00 0 , PYCARD 0.00 0 , RBCK1 0.00 0 , RELA 0.00 0 , RIPK1 0.00 0 , RNASEH2A 0.00 0 , RNASEH2B 0.00 0 , RNASEH2C 0.00 0 , RNF213 0.00 0 , RNF31 0.00 0 , RNU7-1 0.00 0 , SAMD9L 0.00 0 , SAMHD1 0.00 0 , SERPING1 0.00 0 , SH3BP2 0.00 0 , SHARPIN 0.00 0 , SLC29A3 0.00 0 , STAT2 0.00 0 , SYK 0.00 0 , STING1 0.00 0 , TNFAIP3 0.00 0 , TNFRSF11A 0.00 0 , TNFRSF1A 0.00 0 , TNFRSF9 0.00 0 , TRAP1 0.00 0 , TREX1 0.00 0 , TRNT1 0.00 0 , UBA1 0.00 0 , UNC13B 0.00 0 , USP18 0.00 0 , WAS 0.00 0 , WDR1 0.00 0 , XIAP 0.00 0 , -
Primary immune deficiencies (444 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 95.00 0 NM_001082486.1/ interpretable range CS1>95% ACP5 95.00 0 NM_001111035.2/ interpretable range CS1>95% ACTB 95.00 0 NM_001101.4/ interpretable range CS1>95% ADA 95.00 0 NM_000022.3/ interpretable range CS1>95% ADA2 95.00 1 NM_001282225.1/ interpretable range CS1>95% ADAM17 95.00 0 NM_003183.6/ interpretable range CS1>95% ADAR 95.00 0 NM_001111.5/ interpretable range CS1>95% AICDA 95.00 0 NM_020661.3/ interpretable range CS1>95% AIRE 95.00 0 NM_000383.3/ interpretable range CS1>95% AK2 95.00 0 NM_001625.3/ interpretable range CS1>95% ALPI 95.00 0 NM_001631.4/ interpretable range CS1>95% AP1S3 95.00 0 NM_001039569.1/ interpretable range CS1>95% AP3B1 95.00 0 NM_003664.4/ interpretable range CS1>95% AP3D1 95.00 0 NM_001261826.3/ interpretable range CS1>95% APOL1 95.00 0 NM_003661.3/ interpretable range CS1>95% ARPC1B 95.00 0 NM_005720.4/ interpretable range CS1>95% ATAD3A 95.00 0 NM_001170535.2/ interpretable range CS1>95% ATG4A 95.00 0 NM_052936.4/ interpretable range CS1>95% ATM 95.00 0 NM_000051.3/ interpretable range CS1>95% ATP6AP1 95.00 0 NM_001183.5/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% B2M 95.00 0 NM_004048.2/ interpretable range CS1>95% BACH2 95.00 0 NM_021813.3/ interpretable range CS1>95% BCL10 95.00 0 NM_003921.5/ interpretable range CS1>95% BCL11B 95.00 0 NM_138576.3/ interpretable range CS1>95% BLM 95.00 0 NM_000057.3/ interpretable range CS1>95% BLNK 95.00 0 NM_013314.3/ interpretable range CS1>95% BPIFA1 95.00 0 NM_016583.3/ interpretable range CS1>95% BTK 95.00 0 NM_000061.2/ interpretable range CS1>95% C1QA 95.00 0 NM_015991.3/ interpretable range CS1>95% C1QB 95.00 0 NM_000491.4/ interpretable range CS1>95% C1QC 95.00 0 NM_172369.4/ interpretable range CS1>95% C1R 95.00 0 NM_001733.6/ interpretable range CS1>95% C1S 95.00 0 NM_201442.3/ interpretable range CS1>95% C2 95.00 0 NM_000063.5/ interpretable range CS1>95% C2orf69 95.00 0 NM_153689.5/ interpretable range CS1>95% C3 95.00 0 NM_000064.3/ interpretable range CS1>95% C5 95.00 0 NM_001735.2/ interpretable range CS1>95% C6 95.00 0 NM_000065.3/ interpretable range CS1>95% C7 95.00 0 NM_000587.3/ interpretable range CS1>95% C8A 95.00 0 NM_000562.2/ interpretable range CS1>95% C8B 95.00 0 NM_000066.3/ interpretable range CS1>95% C9 95.00 0 NM_001737.4/ interpretable range CS1>95% CARD11 95.00 0 NM_032415.5/ interpretable range CS1>95% CARD14 95.00 0 NM_024110.4/ interpretable range CS1>95% CARD9 95.00 0 NM_052813.4/ interpretable range CS1>95% CARMIL2 95.00 0 NM_001013838.2/ interpretable range CS1>95% CASP10 95.00 0 NM_032977.3/ interpretable range CS1>95% CASP8 95.00 0 NM_001228.4/ interpretable range CS1>95% CCBE1 95.00 0 NM_133459.4/ interpretable range CS1>95% CD19 95.00 0 NM_001770.5/ interpretable range CS1>95% CD247 95.00 0 NM_198053.2/ interpretable range CS1>95% CD27 95.00 0 NM_001242.4/ interpretable range CS1>95% CD28 95.00 0 NM_006139.3/ interpretable range CS1>95% CD3D 95.00 0 NM_000732.4/ interpretable range CS1>95% CD3E 95.00 0 NM_000733.3/ interpretable range CS1>95% CD3G 95.00 0 NM_000073.2/ interpretable range CS1>95% CD4 95.00 0 NM_000616.4/ interpretable range CS1>95% CD40 95.00 0 NM_001250.5/ interpretable range CS1>95% CD40LG 95.00 0 NM_000074.2/ interpretable range CS1>95% CD46 95.00 0 NM_002389.4/ interpretable range CS1>95% CD48 95.00 0 NM_001778.3/ interpretable range CS1>95% CD55 95.00 0 NM_000574.4/ interpretable range CS1>95% CD59 95.00 0 NM_203330.2/ interpretable range CS1>95% CD70 95.00 0 NM_001252.4/ interpretable range CS1>95% CD79A 95.00 0 NM_001783.3/ interpretable range CS1>95% CD79B 95.00 0 NM_000626.3/ interpretable range CS1>95% CD81 95.00 0 NM_004356.3/ interpretable range CS1>95% CD8A 95.00 0 NM_001768.6/ interpretable range CS1>95% CDC42 95.00 0 NM_001791.3/ interpretable range CS1>95% CDCA7 95.00 0 NM_031942.4/ interpretable range CS1>95% CDH17 95.00 0 NM_004063.3/ interpretable range CS1>95% CEBPE 95.00 0 NM_001805.3/ interpretable range CS1>95% CFB 95.00 0 NM_001710.5/ interpretable range CS1>95% CFD 95.00 0 NM_001928.3/ interpretable range CS1>95% CFH 95.00 0 NM_000186.3/ interpretable range CS1>95% CFHR1 95.00 0 NM_002113.2/ interpretable range CS1>95% CFHR2 95.00 0 NM_005666.3/ interpretable range CS1>95% CFHR3 95.00 0 NM_021023.5/ interpretable range CS1>95% CFHR4 95.00 0 NM_001201550.2/ interpretable range CS1>95% CFHR5 95.00 0 NM_030787.3/ interpretable range CS1>95% CFI 95.00 0 NM_000204.4/ interpretable range CS1>95% CFP 95.00 0 NM_002621.2/ interpretable range CS1>95% CFTR 95.00 0 NM_000492.3/ interpretable range CS1>95% CHD7 95.00 0 NM_017780.3/ interpretable range CS1>95% CHUK 95.00 0 NM_001278.4/ interpretable range CS1>95% CIB1 95.00 0 NM_006384.3/ interpretable range CS1>95% CIITA 95.00 0 NM_000246.3/ interpretable range CS1>95% CLCN7 95.00 0 NM_001287.5/ interpretable range CS1>95% CLPB 95.00 0 NM_030813.5/ interpretable range CS1>95% COPA 95.00 0 NM_004371.3/ interpretable range CS1>95% COPG1 95.00 0 NM_016128.3/ interpretable range CS1>95% CORO1A 95.00 0 NM_007074.3/ interpretable range CS1>95% CR2 95.00 0 NM_001006658.2/ interpretable range CS1>95% CRACR2A 95.00 0 NM_001144958.1/ interpretable range CS1>95% CSF2RB 95.00 0 NM_000395.2/ interpretable range CS1>95% CSF3R 95.00 0 NM_000760.3/ interpretable range CS1>95% CTC1 95.00 0 NM_025099.5/ interpretable range CS1>95% CTLA4 95.00 0 NM_005214.4/ interpretable range CS1>95% CTNNBL1 95.00 0 NM_030877.4/ interpretable range CS1>95% CTPS1 95.00 0 NM_001905.3/ interpretable range CS1>95% CTSC 95.00 0 NM_001814.5/ interpretable range CS1>95% CXCR2 95.00 0 NM_001557.3/ interpretable range CS1>95% CXCR4 95.00 0 NM_003467.2/ interpretable range CS1>95% CYBA 95.00 0 NM_000101.3/ interpretable range CS1>95% CYBB 95.00 1 NM_000397.3/ interpretable range CS1>95% CYBC1 95.00 0 NM_001033046.3/ interpretable range CS1>95% DBR1 95.00 0 NM_016216.3/ interpretable range CS1>95% DCLRE1B 95.00 0 NM_022836.3/ interpretable range CS1>95% DCLRE1C 95.00 0 NM_001033855.2/ interpretable range CS1>95% DEF6 95.00 0 NM_022047.3/ interpretable range CS1>95% DGAT1 95.00 0 NM_012079.5/ interpretable range CS1>95% DIAPH1 95.00 0 NM_005219.4/ interpretable range CS1>95% DKC1 95.00 0 NM_001363.4/ interpretable range CS1>95% DNAJC21 95.00 0 NM_001012339.3/ interpretable range CS1>95% DNASE1 95.00 0 NM_005223.3/ interpretable range CS1>95% DNASE1L3 95.00 0 NM_004944.3/ interpretable range CS1>95% DNASE2 95.00 0 NM_001375.2/ interpretable range CS1>95% DNMT3B 95.00 0 NM_006892.3/ interpretable range CS1>95% DOCK2 95.00 0 NM_004946.2/ interpretable range CS1>95% DOCK8 95.00 0 NM_203447.3/ interpretable range CS1>95% DSG1 95.00 0 NM_001942.3/ interpretable range CS1>95% DTNBP1 95.00 0 NM_032122.4/ interpretable range CS1>95% EFL1 95.00 0 NM_024580.5/ interpretable range CS1>95% ELANE 95.00 0 NM_001972.3/ interpretable range CS1>95% ELF4 95.00 0 NM_001421.3/ interpretable range CS1>95% EPG5 95.00 0 NM_020964.2/ interpretable range CS1>95% ERBIN 95.00 0 NM_001253697.1/ interpretable range CS1>95% EXTL3 95.00 0 NM_001440.3/ interpretable range CS1>95% FADD 95.00 0 NM_003824.3/ interpretable range CS1>95% FAS 95.00 0 NM_000043.5/ interpretable range CS1>95% FASLG 95.00 0 NM_000639.2/ interpretable range CS1>95% FAT4 95.00 0 NM_024582.4/ interpretable range CS1>95% FCGR3A 95.00 0 NM_000569.7/ interpretable range CS1>95% FCHO1 95.00 0 NM_015122.2/ interpretable range CS1>95% FCN3 95.00 0 NM_003665.3/ interpretable range CS1>95% FERMT1 95.00 0 NM_017671.4/ interpretable range CS1>95% FERMT3 95.00 0 NM_031471.5/ interpretable range CS1>95% FNIP1 95.00 0 NM_133372.2/ interpretable range CS1>95% FOXN1 95.00 0 NM_003593.2/ interpretable range CS1>95% FOXP3 95.00 0 NM_014009.3/ interpretable range CS1>95% G6PC3 95.00 0 NM_138387.3/ interpretable range CS1>95% G6PD 95.00 0 NM_001042351.2/ interpretable range CS1>95% GATA2 95.00 1 NM_032638.4/ interpretable range CS1>95% GFI1 95.00 0 NM_005263.4/ interpretable range CS1>95% GIMAP5 95.00 0 NM_018384.4/ interpretable range CS1>95% GIMAP6 95.00 0 NM_001244072.1/ interpretable range CS1>95% GINS1 95.00 0 NM_021067.4/ interpretable range CS1>95% GUCY2C 95.00 0 NM_004963.3/ interpretable range CS1>95% HAVCR2 95.00 0 NM_032782.4/ interpretable range CS1>95% HAX1 95.00 0 NM_006118.3/ interpretable range CS1>95% HCK 95.00 0 NM_002110.3/ interpretable range CS1>95% HELLS 95.00 0 NM_018063.4/ interpretable range CS1>95% HTRA2 95.00 0 NM_013247.4/ interpretable range CS1>95% HYOU1 95.00 0 NM_006389.4/ interpretable range CS1>95% ICOS 95.00 0 NM_012092.3/ interpretable range CS1>95% IFIH1 95.00 0 NM_022168.3/ interpretable range CS1>95% IFNAR1 95.00 0 NM_000629.2/ interpretable range CS1>95% IFNAR2 95.00 0 NM_207585.2/ interpretable range CS1>95% IFNG 95.00 0 NM_000619.2/ interpretable range CS1>95% IFNGR1 95.00 0 NM_000416.2/ interpretable range CS1>95% IFNGR2 95.00 0 NM_005534.3/ interpretable range CS1>95% IGLL1 95.00 0 NM_020070.3/ interpretable range CS1>95% IKBKB 95.00 0 NM_001556.2/ interpretable range CS1>95% IKBKG 95.00 0 NM_001099857.2/ interpretable range CS1>95% IKZF1 95.00 0 NM_006060.6/ interpretable range CS1>95% IKZF2 95.00 0 NM_001079526.1/ interpretable range CS1>95% IKZF3 95.00 0 NM_012481.4/ interpretable range CS1>95% IL10 95.00 0 NM_000572.2/ interpretable range CS1>95% IL10RA 95.00 0 NM_001558.3/ interpretable range CS1>95% IL10RB 95.00 0 NM_000628.4/ interpretable range CS1>95% IL12B 95.00 0 NM_002187.2/ interpretable range CS1>95% IL12RB1 95.00 0 NM_005535.2/ interpretable range CS1>95% IL12RB2 95.00 0 NM_001559.2/ interpretable range CS1>95% IL17F 95.00 0 NM_052872.3/ interpretable range CS1>95% IL17RA 95.00 0 NM_014339.6/ interpretable range CS1>95% IL17RC 95.00 0 NM_153461.3/ interpretable range CS1>95% IL18BP 95.00 0 NM_173042.2/ interpretable range CS1>95% IL1RN 95.00 0 NM_173841.2/ interpretable range CS1>95% IL21 95.00 0 NM_021803.3/ interpretable range CS1>95% IL21R 95.00 0 NM_021798.3/ interpretable range CS1>95% IL23R 95.00 0 NM_144701.2/ interpretable range CS1>95% IL2RA 95.00 0 NM_000417.2/ interpretable range CS1>95% IL2RB 95.00 0 NM_000878.4/ interpretable range CS1>95% IL2RG 95.00 0 NM_000206.2/ interpretable range CS1>95% IL36RN 95.00 0 NM_012275.2/ interpretable range CS1>95% IL37 95.00 0 NM_014439.3/ interpretable range CS1>95% IL6R 95.00 0 NM_000565.3/ interpretable range CS1>95% IL6ST 95.00 0 NM_002184.3/ interpretable range CS1>95% IL7 95.00 0 NM_000880.3/ interpretable range CS1>95% IL7R 95.00 0 NM_002185.4/ interpretable range CS1>95% INO80 95.00 0 NM_017553.2/ interpretable range CS1>95% IRAK1 95.00 0 NM_001569.3/ interpretable range CS1>95% IRAK4 95.00 0 NM_016123.3/ interpretable range CS1>95% IRF2BP2 95.00 0 NM_182972.2/ interpretable range CS1>95% IRF3 95.00 0 NM_001571.5/ interpretable range CS1>95% IRF4 95.00 0 NM_002460.3/ interpretable range CS1>95% IRF7 95.00 0 NM_004031.2/ interpretable range CS1>95% IRF8 95.00 0 NM_002163.2/ interpretable range CS1>95% IRF9 95.00 0 NM_006084.4/ interpretable range CS1>95% ISG15 95.00 0 NM_005101.3/ interpretable range CS1>95% ITCH 95.00 0 NM_031483.6/ interpretable range CS1>95% ITGB2 95.00 0 NM_000211.4/ interpretable range CS1>95% ITK 95.00 0 NM_005546.3/ interpretable range CS1>95% ITPKB 95.00 0 NM_002221.3/ interpretable range CS1>95% ITPKC 95.00 0 NM_025194.2/ interpretable range CS1>95% ITPR3 95.00 0 NM_002224.3/ interpretable range CS1>95% JAGN1 95.00 0 NM_032492.3/ interpretable range CS1>95% JAK1 95.00 0 NM_002227.3/ interpretable range CS1>95% JAK3 95.00 0 NM_000215.3/ interpretable range CS1>95% KARS1 95.00 0 NM_001130089.1/ interpretable range CS1>95% KMT2A 95.00 0 NM_001197104.1/ interpretable range CS1>95% KMT2D 95.00 0 NM_003482.3/ interpretable range CS1>95% KPNA2 95.00 0 NM_001320611.1/ interpretable range CS1>95% KRAS 95.00 0 NM_004985.4/ interpretable range CS1>95% LACC1 95.00 0 NM_001128303.2/ interpretable range CS1>95% LAMTOR2 95.00 0 NM_014017.3/ interpretable range CS1>95% LAT 95.00 0 NM_001014987.1/ interpretable range CS1>95% LCK 95.00 0 NM_001042771.2/ interpretable range CS1>95% LCP2 95.00 0 NM_005565.4/ interpretable range CS1>95% LIG1 95.00 0 NM_000234.2/ interpretable range CS1>95% LIG4 95.00 0 NM_002312.3/ interpretable range CS1>95% LPIN2 95.00 0 NM_014646.2/ interpretable range CS1>95% LRBA 95.00 0 NM_006726.4/ interpretable range CS1>95% LRRC32 95.00 0 NM_005512.2/ interpretable range CS1>95% LRRC8A 95.00 0 NM_019594.3/ interpretable range CS1>95% LSM11 95.00 0 NM_173491.3/ interpretable range CS1>95% LYST 95.00 0 NM_000081.3/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MALT1 95.00 0 NM_006785.3/ interpretable range CS1>95% MAN2B2 95.00 0 NM_015274.2/ interpretable range CS1>95% MAP1LC3B2 95.00 0 NM_001085481.2/ interpretable range CS1>95% MAP3K14 95.00 0 NM_003954.4/ interpretable range CS1>95% MAPK8 95.00 0 NM_139049.3/ interpretable range CS1>95% MASP2 95.00 0 NM_006610.3/ interpretable range CS1>95% MBL2 95.00 0 NM_000242.2/ interpretable range CS1>95% MCM10 95.00 0 NM_182751.2/ interpretable range CS1>95% MCM4 95.00 0 NM_005914.3/ interpretable range CS1>95% MEFV 95.00 0 NM_000243.2/ interpretable range CS1>95% MOGS 95.00 0 NM_020831.4/ interpretable range CS1>95% MPO 95.00 0 NM_006302.2/ interpretable range CS1>95% MRTFA 95.00 0 NM_000250.1/ interpretable range CS1>95% MS4A1 95.00 0 NM_152866.2/ interpretable range CS1>95% MSN 95.00 0 NM_002444.2/ interpretable range CS1>95% MTHFD1 95.00 0 NM_005956.3/ interpretable range CS1>95% MVK 95.00 0 NM_000431.3/ interpretable range CS1>95% MYD88 95.00 0 NM_002468.4/ interpretable range CS1>95% MYO5B 95.00 0 NM_001080467.2/ interpretable range CS1>95% MYSM1 95.00 0 NM_001085487.2/ interpretable range CS1>95% NBAS 95.00 0 NM_015909.3/ interpretable range CS1>95% NCF1 95.00 0 NM_000265.5/ interpretable range CS1>95% NCF2 95.00 0 NM_000433.3/ interpretable range CS1>95% NCF4 95.00 0 NM_013416.3/ interpretable range CS1>95% NCKAP1 95.00 0 NM_205842.2/ interpretable range CS1>95% NCKAP1L 95.00 0 NM_005337.4/ interpretable range CS1>95% NCSTN 95.00 0 NM_015331.2/ interpretable range CS1>95% NFAT5 95.00 0 NM_138714.3/ interpretable range CS1>95% NFE2L2 95.00 0 NM_006164.4/ interpretable range CS1>95% NFKB1 95.00 0 NM_003998.3/ interpretable range CS1>95% NFKB2 95.00 0 NM_001077494.3/ interpretable range CS1>95% NFKBIA 95.00 0 NM_020529.2/ interpretable range CS1>95% NHEJ1 95.00 0 NM_024782.2/ interpretable range CS1>95% NHP2 95.00 0 NM_017838.3/ interpretable range CS1>95% NLRC4 95.00 0 NM_021209.4/ interpretable range CS1>95% NLRP1 95.00 0 NM_033004.3/ interpretable range CS1>95% NLRP12 95.00 0 NM_144687.3/ interpretable range CS1>95% NLRP3 95.00 0 NM_004895.4/ interpretable range CS1>95% NOD2 95.00 0 NM_022162.2/ interpretable range CS1>95% NOP10 95.00 0 NM_018648.3/ interpretable range CS1>95% NOS2 95.00 0 NM_000625.4/ interpretable range CS1>95% NRAS 95.00 0 NM_002524.4/ interpretable range CS1>95% NSMCE3 95.00 0 NM_138704.3/ interpretable range CS1>95% OAS1 95.00 0 NM_032790.3/ interpretable range CS1>95% ORAI1 95.00 0 NM_014028.3/ interpretable range CS1>95% OSTM1 95.00 0 NM_138348.5/ interpretable range CS1>95% OTULIN 95.00 0 NM_002582.3/ interpretable range CS1>95% PARN 95.00 0 NM_006192.4/ interpretable range CS1>95% PAX1 95.00 0 NM_005018.2/ interpretable range CS1>95% PDCD1 95.00 0 NM_000285.3/ interpretable range CS1>95% PEPD 95.00 0 NM_001199917.1/ interpretable range CS1>95% PGM3 95.00 0 NM_058004.3/ interpretable range CS1>95% PI4KA 95.00 0 NM_005026.4/ interpretable range CS1>95% PIK3CD 95.00 0 NM_002649.3/ interpretable range CS1>95% PIK3CG 95.00 0 NM_181523.2/ interpretable range CS1>95% PIK3R1 95.00 0 NM_002661.4/ interpretable range CS1>95% PLCG2 95.00 0 NM_014798.2/ interpretable range CS1>95% PLEKHM1 95.00 0 NM_000535.6/ interpretable range CS1>95% PMS2 95.00 0 NM_016937.3/ interpretable range CS1>95% PNP 95.00 0 NM_002691.3/ interpretable range CS1>95% POLA1 95.00 0 NM_006230.3/ interpretable range CS1>95% POLD1 95.00 0 NM_006231.3/ interpretable range CS1>95% POLD2 95.00 0 NM_002692.3/ interpretable range CS1>95% POLE 95.00 0 NM_007055.3/ interpretable range CS1>95% POLE2 95.00 0 NM_001303456.1/ interpretable range CS1>95% POLR3A 95.00 0 NM_001282526.1/ interpretable range CS1>95% POLR3C 95.00 0 NM_015932.5/ interpretable range CS1>95% POLR3E 95.00 0 NM_006235.2/ interpretable range CS1>95% POLR3F 95.00 0 NM_001083116.2/ interpretable range CS1>95% POMP 95.00 0 NM_015932.6/ interpretable range CS1>95% POU2AF1 95.00 0 NM_006254.3/ interpretable range CS1>95% PRF1 95.00 0 NM_006904.6/ interpretable range CS1>95% PRKCD 95.00 0 NM_172341.3/ interpretable range CS1>95% PRKDC 95.00 0 NM_002788.3/ interpretable range CS1>95% PSENEN 95.00 0 NM_002801.3/ interpretable range CS1>95% PSMA3 95.00 0 NM_002796.2/ interpretable range CS1>95% PSMB10 95.00 0 NM_148919.3/ interpretable range CS1>95% PSMB4 95.00 0 NM_002800.4/ interpretable range CS1>95% PSMB8 95.00 0 NM_147163.1/ interpretable range CS1>95% PSMB9 95.00 0 NM_003978.4/ interpretable range CS1>95% PSMG2 95.00 0 NM_000314.6/ interpretable range CS1>95% PSTPIP1 95.00 0 NM_002828.3/ interpretable range CS1>95% PTEN 95.00 0 NM_002838.4/ interpretable range CS1>95% PTPN2 95.00 0 NM_004580.4/ interpretable range CS1>95% PTPRC 95.00 0 NM_002872.4/ interpretable range CS1>95% RAB27A 95.00 0 NM_000448.2/ interpretable range CS1>95% RAC2 95.00 0 NM_000536.3/ interpretable range CS1>95% RAG1 95.00 0 NM_006267.4/ interpretable range CS1>95% RAG2 95.00 0 NM_005739.3/ interpretable range CS1>95% RANBP2 95.00 0 NM_031229.3/ interpretable range CS1>95% RASGRP1 95.00 0 NM_172071.3/ interpretable range CS1>95% RBCK1 95.00 0 NM_004260.3/ interpretable range CS1>95% RC3H1 95.00 0 NM_002908.3/ interpretable range CS1>95% RECQL4 95.00 0 NM_021975.3/ interpretable range CS1>95% REL 95.00 0 NM_006509.3/ interpretable range CS1>95% RELA 95.00 0 NM_000449.3/ interpretable range CS1>95% RELB 95.00 0 NM_003721.3/ interpretable range CS1>95% RFX5 95.00 0 NM_000538.3/ interpretable range CS1>95% RFXANK 95.00 0 NM_001665.3/ interpretable range CS1>95% RFXAP 95.00 0 NM_004310.4/ interpretable range CS1>95% RHOG 95.00 0 NM_003804.5/ interpretable range CS1>95% RHOH 95.00 0 NM_006397.2/ interpretable range CS1>95% RIGI 95.00 0 NM_014314.4/ interpretable range CS1>95% RIPK1 95.00 0 NM_024570.3/ interpretable range CS1>95% RNASEH2A 95.00 0 NM_032193.3/ interpretable range CS1>95% RNASEH2B 95.00 0 NM_152617.3/ interpretable range CS1>95% RNASEH2C 95.00 0 NM_017999.4/ interpretable range CS1>95% RNF168 95.00 0 NM_005060.3/ interpretable range CS1>95% RNF31 95.00 0 NM_002945.4/ interpretable range CS1>95% RORC 95.00 0 NM_002295.5/ interpretable range CS1>95% RPA1 95.00 0 NM_002945.5/ interpretable range CS1>95% RPSA 95.00 0 NM_032957.4/ interpretable range CS1>95% RTEL1 95.00 0 NM_017654.3/ interpretable range CS1>95% SAMD9 95.00 0 NM_152703.4/ interpretable range CS1>95% SAMD9L 95.00 0 NM_015474.3/ interpretable range CS1>95% SAMHD1 95.00 0 NM_018990.3/ interpretable range CS1>95% SASH3 95.00 0 NM_016038.3/ interpretable range CS1>95% SBDS 95.00 0 NM_013336.3/ interpretable range CS1>95% SEC61A1 95.00 0 NM_006378.3/ interpretable range CS1>95% SEMA4D 95.00 0 NM_000062.2/ interpretable range CS1>95% SERPING1 95.00 1 NM_002351.4/ interpretable range CS1>95% SH2D1A 95.00 0 NM_031892.2/ interpretable range CS1>95% SH3KBP1 95.00 0 NM_006929.4/ interpretable range CS1>95% SKIC2 95.00 0 NM_006929.5/ interpretable range CS1>95% SKIC3 95.00 0 NM_014639.4/ interpretable range CS1>95% SLC11A1 95.00 0 NM_018344.5/ interpretable range CS1>95% SLC29A3 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35C1 95.00 0 NM_001164277.1/ interpretable range CS1>95% SLC37A4 95.00 0 NM_006979.2/ interpretable range CS1>95% SLC39A7 95.00 0 NM_080669.5/ interpretable range CS1>95% SLC46A1 95.00 0 NM_001126106.2/ interpretable range CS1>95% SLC7A7 95.00 0 NM_014140.3/ interpretable range CS1>95% SMARCAL1 95.00 0 NM_001098426.1/ interpretable range CS1>95% SMARCD2 95.00 0 NR_002967.1/ interpretable range CS1>95% SNORA31 95.00 0 NM_001199835.1/ interpretable range CS1>95% SNX10 95.00 0 NM_003745.1/ interpretable range CS1>95% SOCS1 95.00 0 NM_004509.3/ interpretable range CS1>95% SP110 95.00 0 NM_004509.5/ interpretable range CS1>95% SPI1 95.00 0 NM_001080547.1/ interpretable range CS1>95% SPINK5 95.00 0 NM_006846.3/ interpretable range CS1>95% SPPL2A 95.00 0 NM_032802.3/ interpretable range CS1>95% SRP54 95.00 0 NM_003136.3/ interpretable range CS1>95% STAT1 95.00 0 NM_007315.3/ interpretable range CS1>95% STAT2 95.00 0 NM_005419.3/ interpretable range CS1>95% STAT3 95.00 0 NM_139276.2/ interpretable range CS1>95% STAT4 95.00 0 NM_003151.3/ interpretable range CS1>95% STAT5B 95.00 0 NM_012448.3/ interpretable range CS1>95% STIM1 95.00 0 NM_003156.3/ interpretable range CS1>95% STING1 95.00 0 NM_006282.4/ interpretable range CS1>95% STK4 95.00 0 NM_024928.4/ interpretable range CS1>95% STN1 95.00 0 NM_003764.3/ interpretable range CS1>95% STX11 95.00 0 NM_006949.3/ interpretable range CS1>95% STXBP2 95.00 0 NM_007269.3/ interpretable range CS1>95% STXBP3 95.00 0 NM_003177.6/ interpretable range CS1>95% SYK 95.00 0 NM_000593.5/ interpretable range CS1>95% TAFAZZIN 95.00 0 NM_000116.5/ interpretable range CS1>95% TAP1 95.00 0 NM_001290043.1/ interpretable range CS1>95% TAP2 95.00 0 NM_003190.4/ interpretable range CS1>95% TAPBP 95.00 0 NM_000116.4/ interpretable range CS1>95% TBK1 95.00 0 NM_013254.3/ interpretable range CS1>95% TBX1 95.00 0 NM_080647.1/ interpretable range CS1>95% TBX21 95.00 0 NM_013351.1/ interpretable range CS1>95% TCF3 95.00 0 NM_003200.4/ interpretable range CS1>95% TCIRG1 95.00 0 NM_006019.3/ interpretable range CS1>95% TCN2 95.00 0 NM_000355.3/ interpretable range CS1>95% TERT 95.00 0 NM_198253.2/ interpretable range CS1>95% TET2 95.00 0 NM_001127208.2/ interpretable range CS1>95% TFRC 95.00 0 NM_003234.3/ interpretable range CS1>95% TGFB1 95.00 0 NM_000660.6/ interpretable range CS1>95% TGFBR1 95.00 0 NM_004612.3/ interpretable range CS1>95% TGFBR2 95.00 0 NM_003242.5/ interpretable range CS1>95% THBD 95.00 0 NM_000361.2/ interpretable range CS1>95% TICAM1 95.00 0 NM_182919.3/ interpretable range CS1>95% TINF2 95.00 0 NM_001099274.1/ interpretable range CS1>95% TLR3 95.00 0 NM_003265.2/ interpretable range CS1>95% TLR7 95.00 0 NM_016562.3/ interpretable range CS1>95% TLR8 95.00 0 NM_138636.5/ interpretable range CS1>95% TMC6 95.00 0 NM_007267.7/ interpretable range CS1>95% TMC8 95.00 0 NM_152468.4/ interpretable range CS1>95% TNFAIP3 95.00 0 NM_198282.3/ interpretable range CS1>95% TNFRSF11A 95.00 0 NM_006290.3/ interpretable range CS1>95% TNFRSF13B 95.00 0 NM_003839.3/ interpretable range CS1>95% TNFRSF13C 95.00 0 NM_012452.2/ interpretable range CS1>95% TNFRSF1A 95.00 0 NM_052945.3/ interpretable range CS1>95% TNFRSF4 95.00 0 NM_001065.3/ interpretable range CS1>95% TNFRSF9 95.00 0 NM_003327.3/ interpretable range CS1>95% TNFSF11 95.00 0 NM_001561.5/ interpretable range CS1>95% TNFSF12 95.00 0 NM_003701.3/ interpretable range CS1>95% TNFSF13 95.00 0 NM_003809.2/ interpretable range CS1>95% TOP2B 95.00 0 NM_003808.3/ interpretable range CS1>95% TPP2 95.00 0 NM_001068.3/ interpretable range CS1>95% TRAF3 95.00 0 NM_003291.3/ interpretable range CS1>95% TRAF3IP2 95.00 0 NM_003300.3/ interpretable range CS1>95% TREX1 95.00 0 NM_147686.3/ interpretable range CS1>95% TRIM22 95.00 0 NM_033629.5/ interpretable range CS1>95% TRNT1 95.00 0 NM_006074.4/ interpretable range CS1>95% TTC7A 95.00 0 NM_014639.3/ interpretable range CS1>95% TYK2 95.00 0 NM_020458.3/ interpretable range CS1>95% UBA1 95.00 0 NM_003331.4/ interpretable range CS1>95% UNC13D 95.00 0 NM_003334.3/ interpretable range CS1>95% UNC93B1 95.00 0 NM_199242.2/ interpretable range CS1>95% UNG 95.00 0 NM_030930.3/ interpretable range CS1>95% USB1 95.00 0 NM_080911.2/ interpretable range CS1>95% USP18 95.00 0 NM_024598.3/ interpretable range CS1>95% VPS13B 95.00 0 NM_017414.3/ interpretable range CS1>95% VPS45 95.00 0 NM_017890.4/ interpretable range CS1>95% WAS 95.00 0 NM_007259.5/ interpretable range CS1>95% WDR1 95.00 0 NM_000377.2/ interpretable range CS1>95% WIPF1 95.00 0 NM_017491.4/ interpretable range CS1>95% WRAP53 95.00 0 NM_001077269.1/ interpretable range CS1>95% XIAP 95.00 1 NM_001167.3/ interpretable range CS1>95% ZAP70 95.00 0 NM_001079.3/ interpretable range CS1>95% ZBTB24 95.00 0 NM_014797.2/ interpretable range CS1>95% ZNF341 95.00 0 NM_032819.4/ interpretable range CS1>95% ZNFX1 95.00 0 NM_021035.2/ interpretable range CS1>95% -
Primary immune deficiencies - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACD 100.00 1 ACP5 100.00 1 ACTB 100.00 1 ADA 99.97 1 ADA2 100.00 1 ADAM17 99.94 1 ADAR 99.84 1 AICDA 99.94 1 AIRE 99.95 1 AK2 99.39 1 ALPI 100.00 1 AP1S3 100.00 1 AP3B1 99.89 1 AP3D1 100.00 1 APOL1 99.99 1 ARHGEF1 99.97 1 ARPC1B 99.92 1 ATG16L1 99.95 1 ATG4A 99.86 1 ATM 99.83 1 ATP2A2 99.98 1 ATP6AP1 100.00 1 B2M 100.00 1 BACH2 99.99 1 BCL10 99.74 1 BCL11B 100.00 1 BLK 99.98 1 BLM 99.80 1 BLNK 99.90 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BTK 99.88 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C1R 99.99 1 C1S 99.98 1 C2 99.99 1 C2orf69 99.97 1 C3 100.00 1 C4A 21.28 1 C4BPA 99.95 1 C5 99.92 1 C6 99.97 1 C7 99.94 1 C8A 99.95 1 C8B 99.37 1 C8G 99.99 1 C9 99.89 1 CARD11 99.97 1 CARD14 99.99 1 CARD9 100.00 1 CARMIL2 99.99 1 CASP10 99.85 1 CASP8 99.92 1 CBL 99.95 1 CCBE1 99.52 1 CCDC28B 99.99 1 CD19 99.98 1 CD247 99.79 1 CD27 99.95 1 CD3D 100.00 1 CD3E 100.00 1 CD3G 100.00 1 CD4 100.00 1 CD40 100.00 1 CD40LG 99.88 1 CD46 99.86 1 CD55 74.12 1 CD59 100.00 1 CD70 99.99 1 CD79A 99.97 1 CD79B 99.93 1 CD81 99.97 1 CD8A 99.97 1 CDC42 98.05 1 CDCA7 99.88 1 CEBPE 100.00 1 CFB 99.97 1 CFD 99.99 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CFP 99.96 1 CFTR 99.45 1 CHD7 99.99 1 CIB1 99.92 1 CIITA 99.99 1 CLCN7 99.99 1 CLEC7A 99.98 1 CLPB 99.97 1 COL7A1 99.99 1 COPA 99.61 1 CORO1A 91.71 1 CPT2 99.65 1 CR2 99.97 1 CREBBP 99.97 1 CSF2RA 93.86 1 CSF2RB 100.00 1 CSF3R 99.97 1 CTC1 100.00 1 CTLA4 99.99 1 CTNNBL1 100.00 1 CTPS1 98.63 1 CTSC 99.97 1 CXCR4 99.98 1 CYBA 99.96 1 CYBB 99.87 1 CYBC1 100.00 1 DBR1 99.92 1 DCLRE1B 99.91 1 DCLRE1C 99.79 1 RIGI 99.84 1 DEF6 100.00 1 DGKE 99.10 1 DHFR 98.89 1 DKC1 99.59 1 DNAJC21 99.67 1 DNASE1 100.00 1 DNASE1L3 99.90 1 DNASE2 100.00 1 DNMT3B 99.98 1 DOCK2 100.00 1 DOCK8 99.86 1 DOK3 99.95 1 DTNBP1 99.89 1 EFL1 99.83 1 ELANE 100.00 1 ELF4 99.97 1 EPG5 99.95 1 ERBIN 99.69 1 ERCC6L2 99.94 1 EXTL3 99.99 1 F12 99.99 1 FAAP24 99.95 1 FADD 99.97 1 FAS 99.99 1 FASLG 99.84 1 FAT4 99.98 1 FCGR2B 70.97 1 FCGR3A 99.93 1 FCGR3B 95.51 1 FCHO1 99.99 1 FCN3 99.48 1 FERMT1 99.90 1 FERMT3 99.99 1 FNIP1 99.87 1 FOXN1 99.97 1 FOXP3 99.93 1 FPR1 100.00 1 G6PC3 99.98 1 G6PD 99.97 1 GATA1 99.97 1 GATA2 99.99 1 GFI1 99.88 1 GIMAP5 100.00 1 GINS1 99.99 1 GUCY2C 99.90 1 HAVCR2 99.93 1 HAX1 100.00 1 HELLS 99.78 1 HMOX1 99.95 1 HPS1 100.00 1 HPS4 99.98 1 HPS6 100.00 1 HTRA2 99.99 1 HYOU1 99.97 1 ICOS 99.95 1 ICOSLG 5.95 1 IFIH1 99.84 1 IFNAR1 99.75 1 IFNAR2 89.62 1 IFNG 99.50 1 IFNGR1 99.87 1 IFNGR2 99.95 1 IGHM 100.00 1 IGKC 99.99 1 IGLL1 100.00 1 IKBKB 99.93 1 IKBKG 57.34 1 IKZF1 99.92 1 IL10 100.00 1 IL10RA 99.99 1 IL10RB 99.99 1 IL12B 99.98 1 IL12RB1 94.11 1 IL12RB2 97.66 1 IL15RA 99.96 1 IL17F 99.99 1 IL17RA 100.00 1 IL17RC 100.00 1 IL18 99.85 1 IL18BP 99.99 1 IL1RL1 99.76 1 IL1RN 99.64 1 IL21 99.95 1 IL21R 99.70 1 IL23R 97.64 1 IL2RA 99.99 1 IL2RB 100.00 1 IL2RG 99.86 1 IL36RN 100.00 1 IL6R 92.46 1 IL6ST 99.88 1 IL7R 99.99 1 ILRUN 100.00 1 INO80 99.96 1 IRAK1 99.98 1 IRAK4 98.85 1 IRF2BP2 100.00 1 IRF3 99.96 1 IRF4 99.99 1 IRF7 100.00 1 IRF8 99.99 1 IRF9 100.00 1 ISG15 100.00 1 ITCH 95.57 1 ITGB2 100.00 1 ITK 99.91 1 ITPKB 99.99 1 IVNS1ABP 99.24 1 JAGN1 100.00 1 JAK1 99.32 1 JAK3 99.99 1 KDM6A 99.74 1 KMT2A 99.97 1 KMT2D 99.98 1 KRAS 99.13 1 LACC1 99.99 1 LAMTOR2 99.92 1 LAT 99.85 1 LCK 99.56 1 LCP2 99.58 1 LIG1 99.93 1 LIG4 100.00 1 LIPA 99.96 1 LPIN2 100.00 1 LRBA 99.76 1 LRRC8A 100.00 1 LSM11 100.00 1 LYST 99.87 1 MAGT1 99.54 1 MALT1 99.71 1 MAN2B1 99.99 1 MAP1LC3B2 100.00 1 MAP3K14 99.98 1 MAPK8 99.64 1 MASP1 99.99 1 MASP2 99.95 1 MBL2 99.93 1 MCM10 99.99 1 MCM4 99.96 1 MEFV 100.00 1 MOGS 100.00 1 MPEG1 100.00 1 MPO 99.97 1 MRE11 99.93 1 MRTFA 92.99 1 MS4A1 99.60 1 MSH6 99.97 1 MSN 99.98 1 MTHFD1 100.00 1 MVK 99.97 1 MYD88 99.99 1 MYO5B 100.00 1 MYSM1 94.16 1 NBAS 99.86 1 NBN 99.93 1 NCF1 57.22 1 NCF2 99.85 1 NCF4 100.00 1 NCKAP1L 99.77 1 NCSTN 99.82 1 NFAT5 99.93 1 NFE2L2 99.97 1 NFKB1 99.80 1 NFKB2 99.98 1 NFKBIA 99.99 1 NHEJ1 99.91 1 NHP2 99.96 1 NKX2-5 99.75 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NLRP7 99.99 1 NOD2 99.98 1 NOP10 99.99 1 NOS2 96.11 1 NPC1 99.99 1 NRAS 99.66 1 NSMCE3 100.00 1 OAS1 99.96 1 ORAI1 99.63 1 OSTM1 99.56 1 OTULIN 99.95 1 PARN 99.75 1 PAX1 100.00 1 PCCA 99.90 1 PCCB 99.97 1 PEPD 99.98 1 PGM3 99.94 1 PIK3CD 99.99 1 PIK3CG 99.72 1 PIK3R1 99.86 1 PLCG2 99.99 1 PLEKHM1 99.77 1 PLG 99.89 1 PMS2 70.47 1 PNP 100.00 1 POLA1 99.57 1 POLD1 99.96 1 POLD2 99.95 1 POLE 99.99 1 POLE2 99.87 1 POLR3A 99.97 1 POLR3C 99.89 1 POLR3F 99.97 1 NT5C3A 99.95 1 PRF1 100.00 1 PRIM1 99.07 1 PRKCD 99.96 1 PRKDC 99.93 1 PSEN1 100.00 1 PSENEN 100.00 1 PSMA3 99.96 1 PSMB10 99.98 1 PSMB4 99.83 1 PSMB8 99.96 1 PSMB9 99.68 1 PSMG2 99.98 1 PSTPIP1 99.91 1 PSTPIP2 99.98 1 PTEN 99.89 1 PTPN11 99.98 1 PTPN2 99.98 1 PTPN6 100.00 1 PTPRC 93.90 1 RAB27A 99.94 1 RAC2 99.99 1 RAG1 100.00 1 RAG2 100.00 1 RANBP2 99.37 1 RASGRP1 100.00 1 RBCK1 100.00 1 RC3H1 99.22 1 RECQL4 100.00 1 REL 96.99 1 RELA 99.99 1 RELB 99.97 1 RFX5 99.88 1 RFXANK 100.00 1 RFXAP 99.98 1 RHOH 99.99 1 RIPK1 99.93 1 RMRP 100.00 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF31 100.00 1 RORC 99.42 1 RPSA 0.00 1 RTEL1 100.00 1 SAMD9 99.93 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SASH3 99.99 1 SBDS 99.93 1 SDHA 99.98 1 SEC61A1 99.99 1 SEMA3E 99.13 1 SERPING1 100.00 1 SGPL1 99.95 1 SH2D1A 98.98 1 SH3BP2 100.00 1 SH3KBP1 99.95 1 SKIC2 99.98 1 SLC11A1 99.99 1 SLC29A3 99.98 1 SLC35C1 100.00 1 SLC37A4 99.90 1 SLC39A7 100.00 1 SLC46A1 100.00 1 SLC7A7 99.99 1 SLC9A3 100.00 1 SMARCAL1 99.97 1 SMARCD2 99.99 1 SNX10 99.96 1 SOCS1 99.98 1 SOCS4 99.92 1 PMP22 99.99 1 SPI1 99.81 1 SPINK5 99.91 1 SPPL2A 99.88 1 SRP54 99.83 1 SRP72 99.91 1 STAT1 99.83 1 STAT2 99.89 1 STAT3 99.97 1 STAT4 99.77 1 STAT5B 99.50 1 STAT6 99.87 1 STIM1 99.99 1 STING1 99.87 1 STK4 99.91 1 STN1 99.88 1 STX11 100.00 1 STXBP2 100.00 1 STXBP3 85.74 1 SYK 99.96 1 TAFAZZIN 99.98 1 TAP1 99.97 1 TAP2 99.94 1 TAPBP 99.98 1 TBK1 99.07 1 TBX1 99.95 1 TBX21 99.99 1 TCF3 100.00 1 TCIRG1 99.99 1 TCN2 100.00 1 TERC 98.59 1 TERT 100.00 1 TET2 99.99 1 TFRC 99.87 1 TGFB1 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THBD 100.00 1 TICAM1 99.99 1 TINF2 100.00 1 TIRAP 100.00 1 TLR3 99.99 1 TLR4 99.99 1 TLR7 99.98 1 TMC6 100.00 1 TMC8 99.92 1 TNFAIP3 99.94 1 TNFRSF11A 100.00 1 TNFRSF13B 99.43 1 TNFRSF13C 99.99 1 TNFRSF1A 100.00 1 TNFRSF4 100.00 1 TNFRSF9 99.99 1 TNFSF11 99.89 1 TNFSF12 100.00 1 TNFSF13 100.00 1 TOP2B 99.72 1 TPP2 99.89 1 TRAC 100.00 1 TRAF3 99.97 1 TRAF3IP2 100.00 1 TREX1 100.00 1 TRIM22 100.00 1 TRNT1 99.97 1 SKIC3 99.82 1 TTC7A 99.77 1 TYK2 99.99 1 UBA1 99.93 1 UNC119 100.00 1 UNC13D 100.00 1 UNC93B1 99.75 1 UNG 100.00 1 USB1 89.62 1 USP18 93.05 1 VAV1 99.99 1 VPS13B 99.90 1 VPS45 93.94 1 WAS 99.90 1 WDR1 99.99 1 WIPF1 99.87 1 WRAP53 100.00 1 XBP1 99.99 1 XIAP 99.36 1 ZAP70 99.95 1 ZBTB24 99.99 1 ZNF341 100.00 1 ZNFX1 99.99 1 -
Rare epilepsy with developmental delay (> 240 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABAT 100.00 0 No comment ACTB 99.92 0 No comment ACTG1 100.00 0 No comment ACTL6B 99.16 0 No comment ACY1 99.96 0 No comment ADAR 99.99 0 No comment ADPRS 91.11 0 No comment ADSL 99.73 0 No comment AFG3L2 95.23 0 No comment ALDH7A1 99.83 0 No comment ALG11 100.00 0 No comment ALG13 95.29 0 No comment AMT 100.00 0 No comment ANKRD11 99.99 0 No comment AP3B2 97.74 0 No comment AP4S1 87.73 0 No comment ARFGEF2 99.81 0 No comment ARHGEF9 99.89 0 No comment ARID1B 87.88 0 No comment ARV1 89.03 0 No comment ARX 59.32 0 No comment ASXL3 99.74 0 No comment ATN1 99.12 0 No comment ATP1A2 99.88 0 No comment ATP1A3 99.81 0 No comment BRAT1 99.96 0 No comment BSCL2 100.00 0 No comment CACNA1A 92.18 0 No comment CACNA1B 93.35 0 No comment CACNA1E 99.99 0 No comment CACNA1G 99.63 0 No comment CACNA2D2 94.11 0 No comment CASK 99.78 0 No comment CDK13 88.47 0 No comment CDKL5 97.71 0 No comment CERS1 76.68 0 No comment CERT1 99.89 0 No comment CHD2 99.95 0 No comment CLCN4 99.94 0 No comment CLN3 99.98 0 No comment CLN5 97.84 0 No comment CLN6 91.00 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CNKSR2 99.28 0 No comment CNTNAP2 99.99 0 No comment COL18A1 96.27 0 No comment COL4A1 98.54 0 No comment CPLX1 99.70 0 No comment CPT2 97.07 0 No comment CSNK2B 100.00 0 No comment CSTB 92.54 0 No comment CTSD 97.90 0 No comment CUX2 98.72 0 No comment CYFIP2 99.99 0 No comment DCX 99.86 0 No comment DDX3X 99.66 0 No comment DENND5A 98.99 0 No comment DEPDC5 99.97 0 No comment DHDDS 99.77 0 No comment DMXL2 99.86 0 No comment DNM1 94.54 0 No comment DNM1L 99.97 0 No comment DOCK7 99.35 0 No comment DYRK1A 100.00 0 No comment EEF1A2 91.59 0 No comment EHMT1 98.44 0 No comment EPM2A 81.75 0 No comment FARS2 99.99 0 No comment FGF12 100.00 0 No comment FLNA 99.50 0 No comment FMN2 92.71 0 No comment FMR1 99.71 0 No comment FOLR1 100.00 0 No comment FOXG1 75.13 0 No comment FRRS1L 69.11 0 No comment FZR1 100.00 0 No comment GABBR2 95.14 0 No comment GABRA1 100.00 0 No comment GABRA2 100.00 0 No comment GABRB1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 98.87 0 No comment GABRG2 92.15 0 No comment GAD1 100.00 0 No comment GAMT 95.00 0 No comment GBA1 100.00 0 No comment GLDC 96.06 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNB5 99.70 0 No comment GOSR2 99.87 0 No comment GPHN 100.00 0 No comment GRIA2 100.00 0 No comment GRIA3 97.93 0 No comment GRIK2 99.97 0 No comment GRIN1 99.74 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 61.45 0 No comment HCN1 93.52 0 No comment HECW2 99.99 0 No comment HNRNPU 95.95 0 No comment HUWE1 99.62 0 No comment IER3IP1 99.80 0 No comment IFIH1 99.99 0 No comment IQSEC2 91.31 0 No comment IRF2BPL 91.18 0 No comment ITPA 100.00 0 No comment KANSL1 99.98 0 No comment KARS1 99.99 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNB1 99.01 0 No comment KCNC1 99.52 0 No comment KCNH1 99.96 0 No comment KCNJ10 100.00 0 No comment KCNK4 96.68 0 No comment KCNMA1 99.92 0 No comment KCNQ2 98.57 0 No comment KCNQ3 95.56 0 No comment KCNQ5 94.69 0 No comment KCNT1 97.66 0 No comment KCNT2 100.00 0 No comment KCTD7 97.74 0 No comment KDM5C 99.69 0 No comment KIF1A 99.96 0 No comment KIF2A 99.83 0 No comment KIF5C 99.91 0 No comment KMT2E 99.89 0 No comment MAP1B 99.93 0 No comment MBD5 100.00 0 No comment MECP2 91.83 0 No comment MED13L 99.94 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MOCS1 97.59 0 No comment MOCS2 100.00 0 No comment MTOR 99.89 0 No comment NARS2 99.98 0 No comment NBEA 98.89 0 No comment NEU1 100.00 0 No comment NEXMIF 99.96 0 No comment NF1 99.55 0 No comment NF2 99.93 0 No comment NHLRC1 99.28 0 No comment NIPA1 84.21 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRXN1 98.90 0 No comment NTRK2 100.00 0 No comment NUS1 98.46 0 No comment OTUD6B 99.73 0 No comment PACS2 96.45 0 No comment PAFAH1B1 100.00 0 No comment PARS2 100.00 0 No comment PCDH19 99.80 0 No comment PHACTR1 97.55 0 No comment PIGA 99.89 0 No comment PIGN 99.84 0 No comment PIGQ 100.00 0 No comment PIGS 100.00 0 No comment PIGT 100.00 0 No comment PLCB1 99.97 0 No comment PLPBP 99.57 0 No comment PNKP 99.98 0 No comment PNPO 99.98 0 No comment POLG 99.86 0 No comment PPP2R5D 99.94 0 No comment PPP3CA 99.93 0 No comment PPT1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRRT2 100.00 0 No comment PTEN 92.28 0 No comment PURA 85.06 0 No comment QARS1 100.00 0 No comment RELN 99.97 0 No comment RHOBTB2 99.98 0 No comment RNASEH2A 99.99 0 No comment RNASEH2B 93.70 0 No comment RNASEH2C 95.34 0 No comment ROGDI 94.47 0 No comment RORA 97.11 0 No comment RORB 100.00 0 No comment RTN4IP1 100.00 0 No comment SAMHD1 100.00 0 No comment SCARB2 100.00 0 No comment SCN1A 99.91 0 No comment SCN1B 95.75 0 No comment SCN2A 100.00 0 No comment SCN3A 100.00 0 No comment SCN8A 99.95 0 No comment SERPINI1 99.98 0 No comment SETD2 99.95 0 No comment SIK1 99.98 0 No comment SLC12A5 99.55 0 No comment SLC13A5 99.89 0 No comment SLC19A3 100.00 0 No comment SLC1A2 99.99 0 No comment SLC25A12 100.00 0 No comment SLC25A22 99.88 0 No comment SLC2A1 99.27 0 No comment SLC35A2 99.82 0 No comment SLC35A3 99.97 0 No comment SLC6A1 99.93 0 No comment SLC6A8 91.78 0 No comment SLC9A6 94.23 0 No comment SMARCA2 97.46 0 No comment SMC1A 99.50 0 No comment SNAP25 100.00 0 No comment AFG2A 100.00 0 No comment SPTAN1 99.98 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 93.40 0 No comment STAG1 99.98 0 No comment STX1B 99.89 0 No comment STXBP1 100.00 0 No comment SYN1 75.34 0 No comment SYNGAP1 98.18 0 No comment SYNJ1 99.27 0 No comment SZT2 99.94 0 No comment TANC2 100.00 0 No comment TBC1D24 99.73 0 No comment TBCD 96.99 0 No comment TCF4 99.90 0 No comment TK2 85.99 0 No comment ACD 99.86 0 No comment TRAK1 99.99 0 No comment TRAPPC6B 100.00 0 No comment TREX1 100.00 0 No comment TRIT1 99.98 0 No comment TSC1 99.97 0 No comment TSC2 99.99 0 No comment TUBA1A 100.00 0 No comment TUBB2B 100.00 0 No comment UBA5 99.97 0 No comment UBE3A 99.97 0 No comment UFC1 99.91 0 No comment UGDH 99.96 0 No comment VARS1 100.00 0 No comment VARS2 100.00 0 No comment WDR26 99.78 0 No comment WDR45 99.67 0 No comment WWOX 100.00 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.11 0 No comment ZEB2 99.91 0 No comment ZNHIT3 74.73 0 No comment -
Skeletal dysplasia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 100.00 1 ALX3 100.00 1 ARID1A 99.99 1 B3GALT6 92.42 1 CDC73 99.98 1 COL11A1 99.99 1 COL9A2 100.00 1 CTSK 100.00 1 DDR2 100.00 1 DHCR24 100.00 1 DVL1 100.00 1 FAM20B 100.00 1 FUCA1 100.00 1 GNAI3 99.99 1 GNPAT 99.96 1 GORAB 99.99 1 HHAT 100.00 1 HS2ST1 99.93 1 HSPG2 99.99 1 IARS2 100.00 1 LBR 99.99 1 LMNA 100.00 1 NLRP3 100.00 1 NMNAT1 95.03 1 NOTCH2 100.00 1 NRAS 99.97 1 ORC1 100.00 1 P3H1 100.00 1 PHGDH 100.00 1 PIGV 100.00 1 PLOD1 100.00 1 POLR3GL 100.00 1 PRKACB 100.00 1 PRRX1 100.00 1 RBM8A 100.00 1 SDCCAG8 99.99 1 SF3B4 100.00 1 SKI 100.00 1 SLC25A24 99.30 1 SLC35D1 99.68 1 TBCE 100.00 1 TBX15 100.00 1 TGFB2 100.00 1 TMCO1 99.91 1 TMEM53 100.00 1 ZMPSTE24 99.99 1 CHST3 100.00 1 DNA2 99.99 1 FBXW4 98.98 1 FGFR2 100.00 1 KAT6B 100.00 1 KIF5B 99.93 1 PAPSS2 99.93 1 POLR3A 100.00 1 SLC29A3 100.00 1 SMC3 99.98 1 TCTN3 100.00 1 ALG9 94.06 1 ALX4 100.00 1 ANO5 100.00 1 ARCN1 100.00 1 B3GAT3 94.88 1 BANF1 100.00 1 BBS1 100.00 1 C2CD3 99.99 1 CDKN1C 100.00 1 CREB3L1 100.00 1 CYP2R1 98.84 1 DPAGT1 100.00 1 DYNC2H1 99.84 1 EED 100.00 1 EXT2 100.00 1 FAM111A 100.00 1 FAR1 99.98 1 FERMT3 100.00 1 HRAS 100.00 1 IFITM5 100.00 1 INPPL1 99.93 1 LRP4 100.00 1 LRP5 100.00 1 LTBP3 100.00 1 MMP13 99.99 1 NADSYN1 100.00 1 PIK3C2A 99.99 1 PLCB3 100.00 1 RASGRP2 100.00 1 SERPINH1 100.00 1 SLC39A13 100.00 1 TCIRG1 100.00 1 TMEM138 100.00 1 TMEM216 100.00 1 ABCC9 99.99 1 ALX1 100.00 1 ATP6V0A2 100.00 1 BBS10 100.00 1 CEP290 99.84 1 CHST11 100.00 1 COL2A1 100.00 1 CYP27B1 100.00 1 FGF23 100.00 1 GDF3 100.00 1 GNPTAB 100.00 1 GNS 100.00 1 IFT81 94.63 1 LEMD3 100.00 1 MAPKAPK5 100.00 1 MGP 100.00 1 PDE3A 100.00 1 PEX5 100.00 1 POLE 100.00 1 POLR3B 99.98 1 PTHLH 100.00 1 PTPN11 99.98 1 RFLNA 99.50 1 SP7 100.00 1 TBX3 100.00 1 TBX5 100.00 1 TCTN1 94.52 1 TCTN2 99.95 1 TRPV4 100.00 1 VDR 99.44 1 VPS33A 95.74 1 WNT1 100.00 1 WNT10B 100.00 1 FGF9 99.98 1 GPC6 100.00 1 KL 98.69 1 POLR1D 99.94 1 TGDS 99.99 1 TNFSF11 100.00 1 AKT1 100.00 1 GNPNAT1 99.99 1 GSC 100.00 1 IFT43 100.00 1 KIAA0586 95.70 1 LTBP2 100.00 1 MMP14 100.00 1 SEC23A 99.98 1 SIX1 100.00 1 SMOC1 100.00 1 SRP54 99.97 1 TGFB3 100.00 1 LYSET 100.00 1 TRIP11 99.98 1 TTC8 99.96 1 ACAN 98.67 1 ADAMTS17 98.97 1 BBS4 100.00 1 CEP152 99.99 1 CHST14 99.49 1 CHSY1 99.98 1 DLL4 100.00 1 EFL1 100.00 1 FBN1 100.00 1 FMN1 100.00 1 GREM1 100.00 1 IDH2 99.93 1 KIF7 99.98 1 LRRK1 100.00 1 MAP2K1 100.00 1 MESD 100.00 1 MESP2 100.00 1 PPIB 100.00 1 SMAD3 100.00 1 SMAD6 100.00 1 TCF12 100.00 1 ANKRD11 100.00 1 BBS2 100.00 1 CBFB 100.00 1 CDH3 100.00 1 CDK10 100.00 1 CDT1 99.07 1 CLCN7 99.78 1 COG4 100.00 1 CREBBP 100.00 1 DHODH 100.00 1 GALNS 100.00 1 GINS2 100.00 1 GNPTG 99.45 1 IFT140 100.00 1 KIF22 100.00 1 MBTPS1 100.00 1 MMP2 100.00 1 ORC6 99.99 1 PAM16 100.00 1 PRMT7 99.99 1 RPGRIP1L 98.82 1 RPL13 100.00 1 RSPRY1 100.00 1 SALL1 100.00 1 TBC1D24 100.00 1 TBX6 100.00 1 TMEM231 100.00 1 TRAF7 100.00 1 VAC14 100.00 1 XYLT1 98.81 1 ACTG1 100.00 1 BHLHA9 99.55 1 CANT1 99.97 1 CDC6 100.00 1 COG1 100.00 1 COL1A1 100.00 1 DLX3 100.00 1 EFTUD2 100.00 1 EIF4A3 99.99 1 FKBP10 100.00 1 FZD2 100.00 1 HES7 100.00 1 KCNJ2 100.00 1 KIAA0753 100.00 1 MEOX1 100.00 1 MKS1 100.00 1 MYH3 100.00 1 NAGLU 99.96 1 NF1 99.98 1 NOG 100.00 1 NXN 100.00 1 P4HB 100.00 1 PLEKHM1 100.00 1 PRKAR1A 100.00 1 PYCR1 100.00 1 SERPINF1 100.00 1 SGSH 100.00 1 SMARCE1 99.97 1 SOST 100.00 1 SOX9 100.00 1 SUZ12 99.97 1 TBX4 99.45 1 WNT3 100.00 1 XYLT2 100.00 1 DYM 99.99 1 LPIN2 99.99 1 RBBP8 99.96 1 SMAD2 100.00 1 SMAD4 100.00 1 SMCHD1 99.97 1 TNFRSF11A 97.91 1 ACP5 100.00 1 ADAMTS10 100.00 1 AKT2 100.00 1 APC2 99.99 1 B9D2 100.00 1 CCDC8 100.00 1 COMP 100.00 1 DLL3 99.85 1 DOCK6 100.00 1 EPS15L1 100.00 1 ERF 100.00 1 FUZ 100.00 1 GPX4 96.50 1 LONP1 100.00 1 MAN2B1 100.00 1 MEGF8 99.96 1 NFIX 99.97 1 PRKACA 100.00 1 SMARCA4 100.00 1 TGFB1 100.00 1 TYROBP 100.00 1 UBA2 99.97 1 ACVR1 100.00 1 AFF3 100.00 1 AGPS 99.76 1 ANAPC1 99.82 1 ARHGAP25 100.00 1 BBS5 99.97 1 CKAP2L 100.00 1 COLEC11 100.00 1 CRIPT 100.00 1 CYP26B1 100.00 1 DNMT3A 100.00 1 DYNC2LI1 100.00 1 EIF2AK3 99.96 1 EN1 100.00 1 EXOC6B 99.77 1 FN1 100.00 1 FOSL2 100.00 1 GALNT3 99.99 1 GLI2 100.00 1 HAAO 100.00 1 HDAC4 100.00 1 HOXD13 100.00 1 IDH1 100.00 1 IFIH1 99.99 1 IFT172 100.00 1 IHH 100.00 1 IL1RN 100.00 1 KYNU 99.99 1 LTBP1 100.00 1 MAP3K20 100.00 1 MATN3 99.95 1 MTX2 99.95 1 MYCN 99.97 1 NBAS 100.00 1 NPPC 100.00 1 OBSL1 99.99 1 ORC4 100.00 1 PAX3 100.00 1 PKDCC 99.76 1 POLR1A 100.00 1 POLR1B 100.00 1 SIX2 100.00 1 SMARCAL1 100.00 1 TMEM237 99.98 1 TRAF3IP1 100.00 1 TTC21B 99.97 1 WDPCP 91.91 1 WDR35 99.99 1 WNT6 100.00 1 ASXL1 100.00 1 BMP2 99.98 1 COL9A3 100.00 1 CTSA 100.00 1 DDRGK1 100.00 1 DPM1 97.07 1 ELMO2 100.00 1 GDF5 100.00 1 GNAS 100.00 1 GZF1 100.00 1 IFT52 100.00 1 LAMA5 99.87 1 MAFB 100.00 1 MKKS 99.98 1 MMP9 100.00 1 PLCB4 100.00 1 SALL4 100.00 1 SNRPB 100.00 1 CFAP410 100.00 1 DONSON 99.81 1 PCNT 100.00 1 ALG12 100.00 1 CCDC134 100.00 1 CDC45 100.00 1 EP300 100.00 1 FBLN1 99.89 1 MCM5 100.00 1 MYO18B 100.00 1 PISD 100.00 1 SMARCB1 100.00 1 SPECC1L 100.00 1 ALG3 100.00 1 ARHGAP31 100.00 1 ARL6 100.00 1 ATR 99.98 1 CASR 100.00 1 COPB2 100.00 1 CRTAP 99.90 1 DVL3 100.00 1 DYNLT2B 100.00 1 EOGT 99.99 1 FLNB 100.00 1 GLB1 100.00 1 HYAL1 100.00 1 IFT122 100.00 1 IFT80 99.94 1 LMOD3 100.00 1 MASP1 100.00 1 MECOM 100.00 1 NEPRO 99.99 1 PCYT1A 100.00 1 PIK3CA 99.97 1 PLOD2 99.95 1 POC1A 100.00 1 PTH1R 100.00 1 SETD2 99.99 1 SLCO2A1 100.00 1 SUMF1 100.00 1 TGFBR2 100.00 1 THPO 100.00 1 TOP2B 99.85 1 TP63 99.99 1 TRAIP 100.00 1 WNT5A 100.00 1 WNT7A 100.00 1 ZIC1 100.00 1 AGA 100.00 1 ANTXR2 100.00 1 BBS12 100.00 1 BBS7 99.97 1 BMPR1B 100.00 1 CC2D2A 98.21 1 CENPE 99.92 1 DMP1 100.00 1 DSPP 100.00 1 EDNRA 100.00 1 EVC 96.08 1 EVC2 100.00 1 FGFR3 100.00 1 HPGD 99.99 1 IDUA 99.84 1 INTU 100.00 1 MAB21L2 100.00 1 MANBA 99.99 1 NEK1 99.99 1 NKX3-2 100.00 1 PRKG2 99.98 1 RAB33B 100.00 1 RBPJ 100.00 1 SEC24D 100.00 1 SGMS2 100.00 1 SH3BP2 98.03 1 SLC10A7 100.00 1 TAPT1 98.76 1 TMEM165 99.97 1 UFSP2 99.99 1 WDR19 99.94 1 ANKH 100.00 1 ARSB 99.92 1 ARSK 99.98 1 B4GALT7 99.95 1 BNIP1 100.00 1 CEP120 99.96 1 CPLANE1 99.97 1 CSF1R 100.00 1 DNAJC21 100.00 1 FBN2 99.99 1 FGF10 100.00 1 HSPA9 100.00 1 IL6ST 99.99 1 KIAA0825 99.99 1 LIFR 99.94 1 MSX2 100.00 1 NIPBL 99.91 1 NPR3 100.00 1 NSD1 100.00 1 PDE4D 99.99 1 PDGFRB 100.00 1 PITX1 100.00 1 SH3PXD2B 100.00 1 SLC26A2 100.00 1 SPARC 100.00 1 SQSTM1 100.00 1 TCOF1 100.00 1 XRCC4 100.00 1 ZSWIM6 97.48 1 ARID1B 99.51 1 CCN6 100.00 1 CILK1 99.92 1 COL10A1 100.00 1 COL11A2 100.00 1 COL9A1 99.99 1 CUL7 100.00 1 DSE 99.66 1 EDN1 100.00 1 ENPP1 99.27 1 FIG4 100.00 1 FOXC1 99.89 1 GCM2 100.00 1 GJA1 100.00 1 GMNN 99.99 1 ID4 97.95 1 MAP3K7 100.00 1 MCM3 100.00 1 NEU1 100.00 1 OSTM1 99.96 1 PEX7 100.00 1 PGM3 100.00 1 POLR1C 97.57 1 RAB23 100.00 1 RIPPLY2 99.85 1 RUNX2 100.00 1 SCUBE3 100.00 1 SLC17A5 99.99 1 SLC35B2 100.00 1 TAB2 100.00 1 TENT5A 100.00 1 TFAP2B 100.00 1 TREM2 100.00 1 ACTB 100.00 1 BBS9 99.96 1 BMPER 100.00 1 COL1A2 100.00 1 CYP3A4 99.94 1 DLX5 100.00 1 DLX6 100.00 1 DYNC2I1 96.68 1 EZH2 99.98 1 FAM20C 99.99 1 FKBP14 99.95 1 GLI3 100.00 1 GUSB 100.00 1 HOXA11 100.00 1 HOXA13 96.84 1 KDELR2 100.00 1 LFNG 94.20 1 LMBR1 99.96 1 MCM7 100.00 1 MET 100.00 1 MNX1 87.84 1 POR 100.00 1 RINT1 99.95 1 SBDS 100.00 1 SFRP4 100.00 1 SHH 100.00 1 SLC4A2 100.00 1 SMO 99.99 1 SNX10 99.97 1 TBXAS1 99.99 1 TRPV6 99.41 1 TWIST1 100.00 1 ASAH1 99.99 1 BMP1 100.00 1 BPNT2 100.00 1 CA2 100.00 1 COLEC10 100.00 1 CSGALNACT1 100.00 1 CSPP1 99.99 1 ESCO2 99.74 1 EXT1 100.00 1 EXTL3 100.00 1 FGFR1 100.00 1 GDF6 99.99 1 HGSNAT 96.79 1 NSMCE2 100.00 1 POP1 100.00 1 PTDSS1 100.00 1 RAD21 100.00 1 RECQL4 99.80 1 RSPO2 100.00 1 SLCO5A1 100.00 1 SULF1 100.00 1 TMEM67 99.30 1 TNFRSF11B 100.00 1 TONSL 100.00 1 TRPS1 100.00 1 ABL1 100.00 1 ADAMTSL2 100.00 1 COL27A1 100.00 1 RIGI 99.97 1 DYNC2I2 100.00 1 HNRNPK 100.00 1 IL11RA 100.00 1 LMX1B 100.00 1 MTAP 100.00 1 NANS 100.00 1 NOTCH1 100.00 1 NPR2 100.00 1 ROR2 99.98 1 SLC34A3 100.00 1 TGFBR1 100.00 1 TMEM38B 100.00 1 TRIM32 100.00 1 VCP 100.00 1 ZNF462 100.00 1 AIFM1 100.00 1 AMER1 100.00 1 ARSL 100.00 1 ATP7A 100.00 1 BGN 100.00 1 CCNQ 99.81 1 CLCN5 100.00 1 EBP 100.00 1 EFNB1 100.00 1 FANCB 100.00 1 FGD1 100.00 1 FGF16 100.00 1 FLNA 100.00 1 GPC3 100.00 1 GPC4 100.00 1 HDAC8 100.00 1 IDS 100.00 1 IKBKG 100.00 1 MBTPS2 100.00 1 MID1 100.00 1 NSDHL 100.00 1 OFD1 100.00 1 PHEX 99.99 1 PLS3 100.00 1 PORCN 100.00 1 SHOX 94.83 1 SMC1A 100.00 1 SMS 100.00 1 TRAPPC2 100.00 1 ZIC3 100.00 1 -
Skeletal dysplasia - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ABL1 100.00 1 ACAN 91.51 1 ACP5 100.00 1 ACVR1 99.94 1 ADAMTS10 99.99 1 ADAMTS17 99.99 1 ADAMTSL2 99.99 1 AFF4 99.94 1 AGA 99.92 1 AGPS 98.83 1 AHDC1 100.00 1 AKT1 100.00 1 ALG12 100.00 1 ALG3 99.96 1 ALG9 99.73 1 ALPL 99.88 1 ALX1 97.99 1 ALX3 99.74 1 ALX4 100.00 1 AMER1 100.00 1 ANAPC1 75.83 1 ANKH 99.95 1 ANKRD11 99.85 1 ANO5 99.85 1 ANTXR2 99.67 1 ARHGAP31 100.00 1 ARID1A 99.83 1 ARID1B 99.69 1 SLURP1 99.99 1 ARSL 99.93 1 ASXL1 100.00 1 ASXL2 99.82 1 ATP6V0A2 99.92 1 B3GALT6 100.00 1 B3GAT3 87.74 1 B3GLCT 99.90 1 B4GALT7 99.99 1 B9D1 99.80 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BHLHA9 100.00 1 BMP1 99.94 1 BMP2 99.79 1 BMPER 99.94 1 BMPR1B 99.61 1 BPNT2 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CANT1 100.00 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC134 100.00 1 CCDC8 100.00 1 CCN6 99.89 1 CCNQ 99.98 1 CD96 99.91 1 CDC45 99.77 1 CDC6 99.85 1 CDH3 99.98 1 CDKN1C 100.00 1 CDT1 100.00 1 CEP120 99.90 1 CEP290 98.10 1 CFAP410 100.00 1 CHD7 99.99 1 CHST14 100.00 1 CHST3 100.00 1 CHSY1 99.99 1 CILK1 99.69 1 CKAP2L 99.54 1 CLCN5 99.67 1 CLCN7 99.99 1 COG1 100.00 1 COG4 99.96 1 COL10A1 100.00 1 COL11A1 90.72 1 COL11A2 99.99 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COL9A1 99.91 1 COL9A2 98.76 1 COL9A3 99.99 1 COLEC11 100.00 1 COMP 100.00 1 CPLANE1 99.81 1 CREB3L1 99.88 1 CREBBP 99.97 1 CRTAP 99.98 1 CSF1R 99.92 1 CSGALNACT1 100.00 1 CSPP1 98.31 1 CTSA 99.98 1 CTSC 99.97 1 CTSK 99.31 1 CUL7 100.00 1 CYP27B1 99.98 1 CYP2R1 99.96 1 DCC 99.96 1 DDR2 99.58 1 RIGI 99.84 1 DDX59 99.67 1 DHCR24 99.93 1 DHCR7 99.97 1 DHODH 99.99 1 DIP2C 100.00 1 DLL3 100.00 1 DLL4 100.00 1 DLX3 99.98 1 DLX5 99.98 1 DLX6 99.82 1 DMP1 99.99 1 DNMT3A 100.00 1 DOCK6 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DSPP 99.99 1 DVL1 100.00 1 DVL3 99.99 1 DYM 99.96 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DYNC2I2 99.98 1 DYNC2LI1 99.94 1 DYNLT2B 100.00 1 GLB1 100.00 1 EDNRA 99.97 1 EFNA4 99.92 1 EFNB1 99.95 1 EFTUD2 99.93 1 EIF2AK3 97.43 1 EIF4A3 99.99 1 ENPP1 99.88 1 EOGT 99.09 1 EP300 99.97 1 ERCC4 99.92 1 ERF 99.98 1 ESCO2 99.92 1 EVC 99.95 1 EVC2 99.97 1 EXT1 99.94 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FAM111A 100.00 1 FAM20C 100.00 1 FBLN1 98.69 1 FBN1 99.85 1 FBN2 99.90 1 FBXW4 99.31 1 FERMT3 99.99 1 FGF10 99.95 1 FGF16 99.60 1 FGF23 100.00 1 FGF3 99.97 1 FGF4 100.00 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FIG4 99.83 1 FKBP10 99.98 1 FLNA 99.99 1 FLNB 99.98 1 FMN1 99.98 1 FREM1 99.98 1 FUCA1 98.72 1 FZD2 99.98 1 GALNS 99.98 1 GALNT3 99.52 1 GDF3 100.00 1 GDF5 100.00 1 GDF6 100.00 1 GFER 100.00 1 GJA1 100.00 1 GLI3 100.00 1 GNAS 100.00 1 GNPAT 99.78 1 GNPNAT1 99.99 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GORAB 99.59 1 GPC6 99.98 1 GPX4 100.00 1 GREM1 100.00 1 GUSB 95.07 1 GZF1 100.00 1 HDAC4 99.98 1 HDAC8 99.74 1 HES7 100.00 1 HGSNAT 99.93 1 HNRNPK 99.93 1 HOXA11 99.99 1 HOXA13 99.94 1 HOXD13 99.98 1 HPGD 99.98 1 HS2ST1 95.79 1 HSPG2 99.87 1 IDH1 99.91 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IFIH1 99.84 1 IFITM5 100.00 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT43 99.97 1 IFT52 99.82 1 IFT80 99.69 1 IFT81 94.64 1 IHH 100.00 1 IKBKG 57.34 1 IL11RA 99.98 1 IL1RN 99.64 1 INPPL1 99.97 1 KAT6B 99.79 1 KDELR2 99.98 1 KIAA0753 100.00 1 KIAA1217 99.99 1 KIF22 99.89 1 KIF7 100.00 1 KMT2D 99.98 1 LBR 99.66 1 LEMD3 99.07 1 LFNG 100.00 1 LIFR 99.69 1 LMBR1 99.88 1 LMNA 99.96 1 LMX1B 100.00 1 LONP1 99.99 1 LPIN2 100.00 1 CORIN 99.89 1 LRP5 99.95 1 LTBP2 99.97 1 MAFB 100.00 1 MAN2B1 99.99 1 MAN2C1 99.96 1 MAP3K7 99.33 1 MASP1 99.99 1 MATN3 99.97 1 MBTPS2 99.81 1 MEGF8 99.90 1 MEOX1 99.99 1 MESP2 99.99 1 MGP 99.95 1 MIA2 99.72 1 MIA3 99.84 1 MKKS 100.00 1 MKS1 99.92 1 MMP13 99.96 1 MMP2 99.96 1 MMP9 100.00 1 MNX1 99.83 1 MPDU1 99.97 1 MSX2 100.00 1 MTX2 99.20 1 MYCN 100.00 1 MYL11 99.85 1 NAGLU 100.00 1 NANS 100.00 1 NBAS 99.86 1 NEK1 99.83 1 NEU1 99.98 1 NF1 99.88 1 NFIX 99.99 1 NIPBL 99.34 1 NKX3-2 99.99 1 NLRP3 100.00 1 NOG 100.00 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NPPC 100.00 1 NPRL2 99.99 1 NSD1 99.98 1 NSDHL 99.87 1 NXN 99.92 1 OBSL1 100.00 1 OFD1 99.68 1 SLC25A15 99.70 1 ORC4 99.70 1 ORC6 99.82 1 OSTM1 99.56 1 P3H1 99.89 1 P4HB 99.99 1 PAM16 100.00 1 PAN2 99.95 1 PAPSS2 99.91 1 PAX3 100.00 1 PCNT 99.97 1 PCYT1A 100.00 1 PDE3A 99.97 1 PDE4D 99.89 1 PEX5 99.89 1 PEX7 99.72 1 PGM3 99.94 1 PHEX 99.83 1 PHGDH 99.79 1 PIGT 99.95 1 PIGV 100.00 1 PIK3C2A 99.92 1 PIK3CA 99.74 1 PISD 100.00 1 PITX1 100.00 1 PLEKHM1 99.77 1 PLOD2 99.66 1 PLS3 99.75 1 POC1A 99.98 1 POLR1A 99.93 1 POLR1C 100.00 1 POLR1D 100.00 1 BVES 99.94 1 PORCN 99.98 1 PPIB 100.00 1 PRKAR1A 100.00 1 PRKG2 99.75 1 PRMT7 99.95 1 PSAT1 99.98 1 PSPH 99.09 1 PTDSS1 99.95 1 PTH1R 99.93 1 PTHLH 99.89 1 PTPN11 99.98 1 PUF60 100.00 1 PYCR1 99.99 1 RAB23 99.97 1 RAB33B 100.00 1 RAD21 99.91 1 RASGRP2 100.00 1 RBM8A 99.37 1 RBPJ 99.96 1 RECQL4 100.00 1 RFT1 99.79 1 RIN1 100.00 1 RNU4ATAC 99.95 1 ROR2 99.99 1 RPGRIP1L 96.35 1 RPL13 99.96 1 RUNX2 100.00 1 SALL1 100.00 1 SALL4 100.00 1 SBDS 99.93 1 SCARF2 99.94 1 SCUBE3 99.96 1 SEC24D 99.94 1 SERPINF1 100.00 1 SERPINH1 100.00 1 SETD2 99.91 1 SF3B4 99.65 1 SFRP4 99.99 1 SGSH 100.00 1 SH3BP2 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOX 92.70 1 HHAT 99.98 1 SLC10A7 99.95 1 SLC17A5 99.71 1 SLC26A2 100.00 1 SLC29A3 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC35C1 100.00 1 SLC35D1 87.50 1 SLC39A13 99.98 1 SLCO2A1 99.99 1 SLCO5A1 99.98 1 SMAD3 99.99 1 SMAD4 99.97 1 SMARCAL1 99.97 1 SMC1A 99.98 1 SMC3 99.91 1 SMO 99.99 1 SMOC1 100.00 1 SNRPB 99.96 1 SNX10 99.96 1 SOST 100.00 1 SOX9 100.00 1 SP7 100.00 1 SPARC 99.94 1 SUCO 98.05 1 SULF1 99.99 1 SUMF1 99.95 1 TALDO1 100.00 1 TAPT1 99.64 1 TBCE 99.91 1 TBX15 99.81 1 TBX3 100.00 1 TBX4 99.96 1 TBX5 99.98 1 TBX6 99.99 1 TBXAS1 100.00 1 TCF12 99.97 1 TCIRG1 99.99 1 TCOF1 99.99 1 TCTN2 99.99 1 TCTN3 99.92 1 TENT5A 99.97 1 TERT 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THPO 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM38B 99.95 1 TMEM67 99.69 1 TNFRSF11A 100.00 1 TNFRSF11B 100.00 1 TNFSF11 99.89 1 TONSL 100.00 1 TP63 99.97 1 TRAPPC2 99.41 1 TREM2 100.00 1 TRIP11 99.90 1 TRPS1 100.00 1 TRPV4 100.00 1 TRPV6 99.99 1 TTC21B 99.50 1 TTC8 99.67 1 TWIST1 100.00 1 TYROBP 99.95 1 VDR 99.86 1 VPS35L 99.07 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WNT1 99.97 1 WNT10B 99.97 1 WNT3 99.99 1 WNT3A 100.00 1 WNT5A 100.00 1 WNT7A 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 ZMPSTE24 98.70 1 ZSWIM6 98.94 1 -
test
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABAT 100.00 0 No comment ACTB 99.92 0 No comment ACTG1 100.00 0 No comment ACTL6B 99.16 0 No comment ACY1 99.96 0 No comment ADAR 99.99 0 No comment ADPRS 91.11 0 No comment ADSL 99.73 0 No comment AFG3L2 95.23 0 No comment ALDH7A1 99.83 0 No comment ALG11 100.00 0 No comment ALG13 95.29 0 No comment AMT 100.00 0 No comment ANKRD11 99.99 0 No comment AP3B2 97.74 0 No comment AP4S1 87.73 0 No comment ARFGEF2 99.81 0 No comment ARHGEF9 99.89 0 No comment ARID1B 87.88 0 No comment ARV1 89.03 0 No comment ARX 59.32 0 No comment ASXL3 99.74 0 No comment ATN1 99.12 0 No comment ATP1A2 99.88 0 No comment ATP1A3 99.81 0 No comment BRAT1 99.96 0 No comment BSCL2 100.00 0 No comment CACNA1A 92.18 0 No comment CACNA1B 93.35 0 No comment CACNA1E 99.99 0 No comment CACNA1G 99.63 0 No comment CACNA2D2 94.11 0 No comment CASK 99.78 0 No comment CDK13 88.47 0 No comment CDKL5 97.71 0 No comment CERS1 76.68 0 No comment CERT1 99.89 0 No comment CHD2 99.95 0 No comment CLCN4 99.94 0 No comment CLN3 99.98 0 No comment CLN5 97.84 0 No comment CLN6 91.00 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CNKSR2 99.28 0 No comment CNTNAP2 99.99 0 No comment COL18A1 96.27 0 No comment COL4A1 98.54 0 No comment CPLX1 99.70 0 No comment CPT2 97.07 0 No comment CSNK2B 100.00 0 No comment CSTB 92.54 0 No comment CTSD 97.90 0 No comment CUX2 98.72 0 No comment CYFIP2 99.99 0 No comment DCX 99.86 0 No comment DDX3X 99.66 0 No comment DENND5A 98.99 0 No comment DEPDC5 99.97 0 No comment DHDDS 99.77 0 No comment DMXL2 99.86 0 No comment DNM1 94.54 0 No comment DNM1L 99.97 0 No comment DOCK7 99.35 0 No comment DYRK1A 100.00 0 No comment EEF1A2 91.59 0 No comment EHMT1 98.44 0 No comment EPM2A 81.75 0 No comment FARS2 99.99 0 No comment FGF12 100.00 0 No comment FLNA 99.50 0 No comment FMN2 92.71 0 No comment FMR1 99.71 0 No comment FOLR1 100.00 0 No comment FOXG1 75.13 0 No comment FRRS1L 69.11 0 No comment FZR1 100.00 0 No comment GABBR2 95.14 0 No comment GABRA1 100.00 0 No comment GABRA2 100.00 0 No comment GABRB1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 98.87 0 No comment GABRG2 92.15 0 No comment GAD1 100.00 0 No comment GAMT 95.00 0 No comment GBA1 100.00 0 No comment GLDC 96.06 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNB5 99.70 0 No comment GOSR2 99.87 0 No comment GPHN 100.00 0 No comment GRIA2 100.00 0 No comment GRIA3 97.93 0 No comment GRIK2 99.97 0 No comment GRIN1 99.74 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 61.45 0 No comment HCN1 93.52 0 No comment HECW2 99.99 0 No comment HNRNPU 95.95 0 No comment HUWE1 99.62 0 No comment IER3IP1 99.80 0 No comment IFIH1 99.99 0 No comment IQSEC2 91.31 0 No comment IRF2BPL 91.18 0 No comment ITPA 100.00 0 No comment KANSL1 99.98 0 No comment KARS1 99.99 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNB1 99.01 0 No comment KCNC1 99.52 0 No comment KCNH1 99.96 0 No comment KCNJ10 100.00 0 No comment KCNK4 96.68 0 No comment KCNMA1 99.92 0 No comment KCNQ2 98.57 0 No comment KCNQ3 95.56 0 No comment KCNQ5 94.69 0 No comment KCNT1 97.66 0 No comment KCNT2 100.00 0 No comment KCTD7 97.74 0 No comment KDM5C 99.69 0 No comment KIF1A 99.96 0 No comment KIF2A 99.83 0 No comment KIF5C 99.91 0 No comment KMT2E 99.89 0 No comment MAP1B 99.93 0 No comment MBD5 100.00 0 No comment MECP2 91.83 0 No comment MED13L 99.94 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MOCS1 97.59 0 No comment MOCS2 100.00 0 No comment MTOR 99.89 0 No comment NARS2 99.98 0 No comment NBEA 98.89 0 No comment NEU1 100.00 0 No comment NEXMIF 99.96 0 No comment NF1 99.55 0 No comment NF2 99.93 0 No comment NHLRC1 99.28 0 No comment NIPA1 84.21 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRXN1 98.90 0 No comment NTRK2 100.00 0 No comment NUS1 98.46 0 No comment OTUD6B 99.73 0 No comment PACS2 96.45 0 No comment PAFAH1B1 100.00 0 No comment PARS2 100.00 0 No comment PCDH19 99.80 0 No comment PHACTR1 97.55 0 No comment PIGA 99.89 0 No comment PIGN 99.84 0 No comment PIGQ 100.00 0 No comment PIGS 100.00 0 No comment PIGT 100.00 0 No comment PLCB1 99.97 0 No comment PLPBP 99.57 0 No comment PNKP 99.98 0 No comment PNPO 99.98 0 No comment POLG 99.86 0 No comment PPP2R5D 99.94 0 No comment PPP3CA 99.93 0 No comment PPT1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRRT2 100.00 0 No comment PTEN 92.28 0 No comment PURA 85.06 0 No comment QARS1 100.00 0 No comment RELN 99.97 0 No comment RHOBTB2 99.98 0 No comment RNASEH2A 99.99 0 No comment RNASEH2B 93.70 0 No comment RNASEH2C 95.34 0 No comment ROGDI 94.47 0 No comment RORA 97.11 0 No comment RORB 100.00 0 No comment RTN4IP1 100.00 0 No comment SAMHD1 100.00 0 No comment SCARB2 100.00 0 No comment SCN1A 99.91 0 No comment SCN1B 95.75 0 No comment SCN2A 100.00 0 No comment SCN3A 100.00 0 No comment SCN8A 99.95 0 No comment SERPINI1 99.98 0 No comment SETD2 99.95 0 No comment SIK1 99.98 0 No comment SLC12A5 99.55 0 No comment SLC13A5 99.89 0 No comment SLC19A3 100.00 0 No comment SLC1A2 99.99 0 No comment SLC25A12 100.00 0 No comment SLC25A22 99.88 0 No comment SLC2A1 99.27 0 No comment SLC35A2 99.82 0 No comment SLC35A3 99.97 0 No comment SLC6A1 99.93 0 No comment SLC6A8 91.78 0 No comment SLC9A6 94.23 0 No comment SMARCA2 97.46 0 No comment SMC1A 99.50 0 No comment SNAP25 100.00 0 No comment AFG2A 100.00 0 No comment SPTAN1 99.98 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 93.40 0 No comment STAG1 99.98 0 No comment STX1B 99.89 0 No comment STXBP1 100.00 0 No comment SYN1 75.34 0 No comment SYNGAP1 98.18 0 No comment SYNJ1 99.27 0 No comment SZT2 99.94 0 No comment TANC2 100.00 0 No comment TBC1D24 99.73 0 No comment TBCD 96.99 0 No comment TCF4 99.90 0 No comment TK2 85.99 0 No comment ACD 99.86 0 No comment TRAK1 99.99 0 No comment TRAPPC6B 100.00 0 No comment TREX1 100.00 0 No comment TRIT1 99.98 0 No comment TSC1 99.97 0 No comment TSC2 99.99 0 No comment TUBA1A 100.00 0 No comment TUBB2B 100.00 0 No comment UBA5 99.97 0 No comment UBE3A 99.97 0 No comment UFC1 99.91 0 No comment UGDH 99.96 0 No comment VARS1 100.00 0 No comment VARS2 100.00 0 No comment WDR26 99.78 0 No comment WDR45 99.67 0 No comment WWOX 100.00 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.11 0 No comment ZEB2 99.91 0 No comment ZNHIT3 74.73 0 No comment