- Analytes
- SGCA
SGCA
Name: |
sarcoglycan alpha
|
Symbol: |
SGCA
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
50kD DAG
A2
DMDA2
LGMD2D
SCARMD1
adhalin
limb girdle muscular dystrophy 2D
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Congenital structural heart defects (gene panel)
- Intellectual disability (virtual gene panel)
- Myopathy (gene panel)
- Myopathy (gene panel)
- Neurodevelopmental disorders (1300 genes)
- Neurodevelopmental disorders gene panel
- Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
- Neuromuscular disorders (548 genes)
- Neuromuscular disorders (gene panel)
-
Congenital structural heart defects - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AATK 99.98 1 ABL1 100.00 1 ACAN 91.51 1 ACTA1 99.99 1 ACTB 100.00 1 ACTC1 98.57 1 ACTG1 100.00 1 ACTN2 99.99 1 ACVR1 99.94 1 ACVR1B 99.99 1 ACVR2A 99.15 1 ACVR2B 99.99 1 ACVRL1 99.88 1 ADAMTS10 99.99 1 ADNP 100.00 1 AKAP12 100.00 1 AKT1 100.00 1 AKT2 99.85 1 ALDH1A2 99.97 1 ALX3 99.74 1 ANKRD1 99.57 1 ANKRD11 99.85 1 AP1B1 99.99 1 APAF1 98.70 1 AR 99.76 1 ARHGAP31 100.00 1 ARID4A 99.90 1 ATP2A2 99.98 1 ATRX 99.44 1 AXIN1 100.00 1 BCOR 99.97 1 BMP10 99.96 1 BMP2 99.79 1 BMP4 100.00 1 BMP6 100.00 1 BMP7 100.00 1 BMPR1A 99.58 1 BMPR2 99.95 1 BRAF 99.78 1 BRIP1 99.39 1 BVES 99.83 1 CASQ2 94.39 1 CAV1 99.97 1 CAV3 100.00 1 CBL 99.95 1 CCDC103 99.68 1 CCDC39 99.74 1 CCDC40 100.00 1 CCDC65 99.80 1 CCN1 99.99 1 CCNO 100.00 1 CD96 99.91 1 CDK13 99.83 1 CDK4 100.00 1 CDX2 100.00 1 CENPF 99.97 1 CFAP53 99.95 1 CFC1 21.93 1 CHAC2 99.68 1 CHD4 99.99 1 CHD7 99.99 1 CHD8 99.96 1 CITED2 100.00 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COX7B 99.86 1 CREBBP 99.97 1 CRELD1 99.99 1 CRIP2 99.99 1 CRYAB 100.00 1 CSNK1D 99.99 1 CSRP1 99.75 1 CSRP3 100.00 1 CTNNB1 99.95 1 DDX3X 99.01 1 DES 100.00 1 DIAPH3 99.85 1 DICER1 99.96 1 DLGAP5 99.83 1 DLL1 99.99 1 DLL4 100.00 1 DNAAF1 99.99 1 DNAAF11 99.80 1 DNAAF2 99.91 1 DNAAF3 99.99 1 DNAAF4 99.78 1 DNAAF5 99.99 1 DNAH11 99.93 1 DNAH5 99.98 1 DNAI1 99.92 1 DNAI2 99.86 1 DNAJB13 99.91 1 DNAH9 99.79 1 DRC1 99.93 1 DSCAM 99.99 1 DVL1 100.00 1 DYRK1A 99.98 1 E2F1 99.99 1 ECE1 99.92 1 EDNRA 99.97 1 EFEMP2 99.94 1 EFNB1 99.95 1 EFTUD2 99.93 1 EGFR 99.68 1 EGR1 99.99 1 EHMT1 98.38 1 ELN 99.86 1 ENG 100.00 1 EOGT 99.09 1 EP300 99.97 1 EPHB2 99.86 1 EPHB4 99.82 1 ERBB2 99.98 1 ERCC4 99.92 1 ESR2 99.96 1 ETS1 99.99 1 EVC 99.95 1 EVC2 99.97 1 EWSR1 99.94 1 EZH2 99.89 1 F2R 99.98 1 FABP3 99.87 1 FADD 99.97 1 FANCA 100.00 1 FANCB 99.24 1 FANCC 99.98 1 FANCD2 99.86 1 FANCE 99.99 1 FANCF 100.00 1 FANCG 100.00 1 FANCI 99.96 1 FANCL 99.67 1 FBLN1 98.69 1 FBLN7 99.95 1 FBN1 99.85 1 FBN2 99.90 1 FGF10 99.95 1 FGF8 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FHL2 100.00 1 FIBP 99.83 1 FLII 100.00 1 FLNA 99.99 1 FLNC 99.99 1 FLT1 99.99 1 FLT4 97.93 1 FN1 99.95 1 FOXC1 100.00 1 FOXC2 100.00 1 FOXH1 100.00 1 FOXK2 99.76 1 FOXL1 100.00 1 FOXL2 99.97 1 FOXO1 100.00 1 FOXP1 99.98 1 FSCN2 100.00 1 G6PC3 99.98 1 GAS8 100.00 1 GATA2 99.99 1 GATA4 99.99 1 GATA5 100.00 1 GATA6 99.90 1 GATAD2B 99.44 1 GDF1 100.00 1 GDF11 99.97 1 GDF5 100.00 1 GDNF 99.99 1 GJA1 100.00 1 GJA5 100.00 1 GJD2 99.99 1 GLB1 100.00 1 GLI2 99.93 1 GLI3 100.00 1 GPC3 99.60 1 GPC5 99.96 1 GPC6 99.98 1 GRK5 99.97 1 GTF2I 47.18 1 GTF2IRD1 99.77 1 HAND1 99.99 1 HAND2 99.97 1 HDAC8 99.74 1 HES4 100.00 1 HEY2 99.75 1 HIF1A 99.87 1 HMGB2 99.99 1 HNF1A 100.00 1 HNF4A 100.00 1 HOXA1 100.00 1 HOXB2 99.99 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HYDIN 81.28 1 ID2 100.00 1 IGF1R 100.00 1 IGFBP4 99.85 1 IKBKB 99.93 1 ILK 100.00 1 INHBA 99.98 1 INHBC 99.99 1 INPP5D 99.98 1 INSR 99.99 1 IRS1 100.00 1 IRX4 99.99 1 ISL1 99.99 1 ITGAV 99.40 1 ITGB1 99.96 1 ITGB3 99.83 1 ITGB4 99.99 1 JAG1 100.00 1 JAM3 100.00 1 JUN 100.00 1 KANSL1 99.85 1 KAT6A 99.93 1 KAT6B 99.79 1 KDM3B 99.98 1 KDM5A 99.90 1 KDM5B 97.15 1 KDM6A 99.74 1 KDR 99.86 1 KIT 99.86 1 KMT2D 99.98 1 KRAS 99.13 1 KREMEN1 99.88 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMC1 99.55 1 LBR 99.66 1 LEFTY1 99.98 1 LEFTY2 100.00 1 LHX3 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRP2 99.86 1 LTBP1 99.95 1 LTBP3 99.96 1 LZTR1 99.46 1 MAFG 100.00 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK14 99.95 1 MCTP2 99.99 1 MECOM 99.97 1 MED13L 99.99 1 MEF2C 99.57 1 MEGF8 99.90 1 MESP1 100.00 1 MET 99.97 1 METTL3 99.98 1 MGP 99.95 1 MID1 99.90 1 MITF 99.98 1 MMP2 99.96 1 MMP21 99.99 1 MSX1 100.00 1 MTHFD1 100.00 1 MTHFR 99.97 1 MTRR 99.98 1 MYBPC3 99.98 1 MYC 100.00 1 MYH10 99.91 1 MYH11 99.16 1 MYH6 100.00 1 MYH7 99.99 1 MYH9 99.95 1 MYL2 99.99 1 MYL3 99.99 1 MYL7 99.95 1 MYOCD 99.99 1 MYOM1 99.98 1 MYOZ2 99.99 1 NF1 99.88 1 NFATC1 100.00 1 NFIX 99.99 1 NFKB1 99.80 1 NID2 99.97 1 NIPBL 99.34 1 NKX2-1 100.00 1 NKX2-5 99.75 1 NKX2-6 100.00 1 NME8 99.83 1 NNMT 100.00 1 NODAL 99.98 1 NONO 99.94 1 NOS3 93.73 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NOTCH3 99.99 1 NPHP3 99.89 1 NPHP4 99.98 1 NPPA 100.00 1 NR2F2 100.00 1 NR4A2 99.97 1 NRAS 99.66 1 NRP1 99.99 1 NRP2 99.98 1 NSD1 99.98 1 ODAD1 96.04 1 ODAD2 98.19 1 ODAD3 99.96 1 ODAD4 99.85 1 OTX2 100.00 1 PACS1 99.96 1 PAX3 100.00 1 PCSK5 99.97 1 PDGFC 99.97 1 PDGFRA 99.94 1 PDGFRB 99.99 1 PDHX 100.00 1 PIGA 99.81 1 PIGL 99.98 1 PIGN 99.91 1 PIGT 99.95 1 PITX2 99.98 1 PKD1L1 99.84 1 PLAGL1 99.96 1 PLAT 99.99 1 POU5F1 100.00 1 PPARG 99.96 1 PPARGC1A 99.82 1 PPP3CA 99.84 1 PRKACA 99.95 1 PRKD1 99.96 1 PROX1 99.98 1 PRRX1 99.56 1 PSEN1 100.00 1 PSEN2 99.97 1 PTEN 99.89 1 PTK2 99.97 1 PTP4A3 99.99 1 PTPN11 99.98 1 PUF60 100.00 1 RAB23 99.97 1 RAD21 99.91 1 RAD51C 99.02 1 RAF1 99.97 1 RAI1 99.22 1 RAI2 99.98 1 RARB 99.99 1 RARG 99.98 1 RB1 99.84 1 RBBP7 99.87 1 RBL2 99.44 1 RBM10 99.98 1 RBM8A 99.37 1 RELA 99.99 1 RERE 99.94 1 RET 99.97 1 RGS19 99.88 1 RIT1 99.78 1 RNF20 99.93 1 ROR2 99.99 1 RPGR 94.45 1 RPL11 99.81 1 RPL15 31.77 1 RPL26 30.55 1 RPL35A 97.55 1 RPL5 28.81 1 RPS10 0.00 1 RPS17 100.00 1 RPS19 100.00 1 RPS24 91.48 1 RPS26 8.99 1 RPS28 100.00 1 RPS29 99.96 1 RPS7 88.50 1 RSPH1 99.87 1 RSPH3 99.94 1 RSPH4A 99.95 1 RSPH9 99.99 1 RYR2 99.94 1 SALL1 100.00 1 SALL4 100.00 1 SCN5A 100.00 1 SESN1 99.95 1 SF3B4 99.65 1 SGCA 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOC2 99.96 1 HHAT 99.98 1 SLC19A1 99.99 1 SLC25A4 100.00 1 SLC2A10 100.00 1 SLX4 100.00 1 SMAD2 99.92 1 SMAD3 99.99 1 SMAD4 99.97 1 SMAD6 100.00 1 SMARCE1 99.87 1 SMC1A 99.98 1 SMC3 99.91 1 SMG9 99.99 1 SOS1 99.68 1 SOS2 99.39 1 SOX2 100.00 1 SOX4 99.36 1 SP1 99.98 1 SPAG1 99.78 1 SPATC1L 99.99 1 SPECC1L 99.98 1 SRCAP 99.99 1 SRF 99.99 1 STAT3 99.97 1 STRA6 99.95 1 SUZ12 98.58 1 TAB2 99.75 1 TBX1 99.95 1 TBX2 99.97 1 TBX20 99.99 1 TBX3 100.00 1 TBX5 99.98 1 TBX6 99.99 1 TCAP 100.00 1 TCF21 100.00 1 TCF3 100.00 1 TCN2 100.00 1 CRIPTO 99.82 1 TEAD1 99.97 1 TEK 99.98 1 TFAP2A 100.00 1 TFAP2B 99.98 1 TFAP2C 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFB3 100.00 1 TGFBR1 99.94 1 TGFBR2 99.98 1 TGIF1 100.00 1 THBS1 100.00 1 THBS4 100.00 1 THOC5 99.90 1 THRB 99.82 1 DDR2 97.39 1 TLL1 99.94 1 TNFRSF11A 100.00 1 TNFRSF1A 100.00 1 TNNI3 100.00 1 TNNT2 99.87 1 TNR 99.80 1 TP53 99.98 1 TP73 100.00 1 TPM1 99.92 1 TRPM2 99.99 1 TSR2 99.96 1 TTN 99.15 1 TWIST1 100.00 1 UBE2B 99.94 1 UBE2T 99.89 1 USP44 99.86 1 USP9X 99.84 1 VCAN 99.99 1 VDR 99.86 1 VEGFA 99.99 1 VEGFC 99.96 1 WASHC5 99.98 1 WDR5 100.00 1 WNT11 100.00 1 WT1 99.99 1 YY1 100.00 1 ZEB2 99.97 1 ZFHX3 99.96 1 ZFPM2 100.00 1 ZIC3 99.90 1 ZMYND10 99.99 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 -
Myopathy (332 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 1 NM_001605.3 ABHD5 100.00 1 NM_016006.6 ACAD9 100.00 1 NM_014049.5 ACADM 100.00 1 NM_000016.6 ACADVL 100.00 1 NM_000018.4 ACTA1 100.00 1 NM_001100.4 ACVR1 100.00 1 NM_001111067.4 ADSS1 100.00 1 NM_199165.2 AGK 100.00 1 NM_018238.4 AGL 100.00 1 NM_000642.3 AGRN 100.00 1 NM_198576.4 AIFM1 100.00 1 NM_004208.4 ALDOA 100.00 1 NM_184041.4 ALG13 98.00 1 NM_001099922.3 ALG14 100.00 1 NM_144988.4 ALG2 100.00 1 NM_033087.4 ALS2 100.00 1 NM_020919.4 AMPD1 100.00 1 NM_000036.2 ANG 100.00 1 NM_001145.4 ANO5 100.00 1 NM_213599.3 AR 100.00 1 NM_000044.6 ASAH1 100.00 1 NM_177924.5 ASCC1 100.00 1 NM_001198800.3 ATP2A1 100.00 1 NM_004320.6 ATP7A 100.00 1 NM_000052.7 ATXN2 100.00 1 NM_001372574.1 B3GALNT2 100.00 1 NM_152490.5 B4GAT1 100.00 1 NM_006876.3 BAG3 100.00 1 NM_004281.4 BCS1L 100.00 1 NM_001079866.2 BICD2 100.00 1 NM_001003800.2 BIN1 100.00 1 NM_139343.3 BSCL2 100.00 1 NM_001122955.3 BVES 100.00 1 NM_001199563.2 C1QBP 100.00 1 NM_001212.4 C9ORF72 100.00 0 NM_018325.5 CACNA1A 100.00 1 NM_023035.3 CACNA1S 100.00 1 NM_000069.3 CAPN3 100.00 1 NM_000070.3 CASQ1 100.00 1 NM_001231.5 CAV3 100.00 1 NM_033337.3 CAVIN1 100.00 1 NM_012232.6 CCDC78 100.00 1 NM_001031737.3 CFL2 100.00 1 NM_138638.5 CHAT 100.00 1 NM_020549.4 CHCHD10 100.00 1 NM_213720.3 CHKB 100.00 1 NM_005198.5 CHMP2B 100.00 1 NM_014043.4 CHRNA1 100.00 1 NM_000079.4 CHRNB1 100.00 1 NM_000747.3 CHRND 100.00 1 NM_000751.3 CHRNE 100.00 1 NM_000080.4 CHRNG 100.00 1 NM_005199.5 CHST14 100.00 1 NM_130468.4 CLCN1 100.00 1 NM_000083.3 CLN3 100.00 1 NM_001042432.2 CNBP 100.00 1 NM_003418.5 CNTN1 100.00 1 NM_001843.4 COL12A1 100.00 1 NM_004370.6 COL13A1 100.00 1 NM_001130103.2 COL6A1 100.00 1 NM_001848.3 COL6A2 100.00 1 NM_001849.4 COL6A3 100.00 1 NM_004369.4 COLQ 100.00 1 NM_005677.4 COQ9 100.00 1 NM_020312.4 COX10 100.00 1 NM_001303.4 COX15 100.00 1 NM_078470.6 COX20 100.00 1 NM_198076.6 COX6B1 100.00 1 NM_001863.5 COX8A 100.00 1 NM_004074.3 CPT2 100.00 1 NM_000098.3 CRPPA 100.00 1 NM_001101426.4 CRYAB 100.00 1 NM_001289808.2 DAG1 100.00 1 NM_001177634.2 DCTN1 100.00 1 NM_004082.4 DES 100.00 1 NM_001927.4 DGUOK 100.00 1 NM_080916.3 DMD 100.00 1 NM_004006.2 DMPK 100.00 1 NM_004409.5 DNA2 100.00 1 NM_001080449.3 DNAJB2 100.00 1 NM_006736.6 DNAJB6 100.00 1 NM_058246.4 DNM2 100.00 1 NM_001005361.3 DNMT3B 100.00 1 NM_006892.4 DOK7 100.00 1 NM_173660.5 DPAGT1 100.00 1 NM_001382.4 DPM1 99.00 1 NM_001317035.1 DPM2 100.00 1 NM_003863.4 DPM3 100.00 1 NM_153741.2 DYNC1H1 100.00 1 NM_001376.5 DYSF 100.00 1 NM_001130987.2 ECEL1 100.00 1 NM_004826.4 EMD 100.00 1 NM_000117.3 ENO3 100.00 1 NM_053013.4 ERBB3 100.00 1 NM_001982.4 ERBB4 100.00 1 NM_005235.3 ETFA 100.00 1 NM_000126.4 ETFB 100.00 1 NM_001985.3 ETFDH 100.00 1 NM_004453.4 EXOSC3 100.00 1 NM_016042.4 EXOSC8 100.00 1 NM_181503.3 FASTKD2 100.00 1 NM_001136193.2 FBN2 100.00 1 NM_001999.4 FBXL4 100.00 1 NM_001278716.2 FBXO38 100.00 1 NM_205836.3 FDX2 100.00 1 NM_001031734.4 FHL1 100.00 1 NM_001159699.2 FIG4 100.00 1 NM_014845.6 FKRP 100.00 1 NM_024301.5 FKTN 100.00 1 NM_006731.2 FLAD1 100.00 1 NM_025207.5 FLNC 100.00 1 NM_001458.4 FOXRED1 100.00 1 NM_017547.4 FUS 100.00 1 NM_004960.4 FXR1 100.00 1 NM_005087.4 GAA 100.00 1 NM_000152.5 GABRA3 100.00 1 NM_000808.4 GARS1 100.00 1 NM_002047.4 GBE1 100.00 1 NM_000158.4 GFER 100.00 1 NM_005262.3 GFPT1 100.00 1 NM_001244710.2 GLE1 100.00 1 NM_001003722.2 GLI3 100.00 1 NM_000168.6 GMPPB 100.00 1 NM_021971.4 GNE 100.00 1 NM_005476.7 GOLGA2 100.00 1 XM_005251932.1 GYG1 100.00 1 NM_004130.4 GYS1 100.00 1 NM_002103.5 HACD1 100.00 1 NM_014241.4 HADHA 100.00 1 NM_000182.5 HADHB 100.00 1 NM_000183.3 HEXB 100.00 1 NM_000521.4 HNRNPA1 100.00 1 NM_031157.4 HNRNPA2B1 100.00 1 NM_031243.3 HNRNPDL 100.00 1 NM_031372.3 HRAS 100.00 1 NM_005343.4 HSPB3 100.00 1 NM_006308.3 HSPB8 100.00 1 NM_014365.3 HSPG2 100.00 1 NM_005529.7 IBA57 100.00 1 NM_001010867.4 IGHMBP2 100.00 1 NM_002180.3 INPP5K 100.00 1 NM_016532.4 ISCU 100.00 1 NM_213595.3 ITGA7 100.00 1 NM_002206.3 KBTBD13 100.00 1 NM_001101362.2 KCNA1 100.00 1 NM_000217.3 KCNH2 100.00 1 NM_000238.4 KCNJ18 100.00 1 NM_001194958.2 KCNJ2 100.00 1 NM_000891.3 KCNQ1 100.00 1 NM_000218.3 KIF5A 100.00 1 NM_004984.4 KLHL40 100.00 1 NM_152393.4 KLHL41 100.00 1 NM_006063.3 KLHL9 100.00 1 NM_018847.4 KY 100.00 1 NM_178554.6 LAMA2 100.00 1 NM_000426.3 LAMA5 100.00 1 NM_005560.6 LAMB2 100.00 1 NM_002292.4 LAMP2 100.00 1 NM_002294.3 LARGE1 100.00 1 NM_004737.6 LDB3 98.00 1 NM_001171610.2 LDHA 100.00 1 NM_005566.4 LGI4 100.00 1 NM_139284.3 LIMS2 100.00 1 NM_017980.4 LMNA 100.00 1 NM_170707.4 LMOD3 100.00 1 NM_198271.5 LPIN1 100.00 1 NM_001349206.2 LRP4 100.00 1 NM_002334.4 LRPPRC 100.00 1 NM_133259.4 MAP3K20 100.00 1 NM_016653.3 MATR3 100.00 1 NM_018834.6 MCCC1 100.00 1 NM_020166.5 MCCC2 100.00 1 NM_022132.5 MEGF10 100.00 1 NM_001256545.2 MGME1 100.00 1 NM_052865.4 MPV17 100.00 1 NM_002437.5 MSTN 100.00 1 NM_005259.3 MTM1 100.00 1 NM_000252.3 MTMR14 100.00 1 NM_001077525.3 MUSK 100.00 1 NM_005592.4 MYBPC1 100.00 1 NM_002465.4 MYBPC3 100.00 1 NM_000256.3 MYH2 100.00 1 NM_017534.6 MYH3 100.00 1 NM_002470.4 MYH7 100.00 1 NM_000257.4 MYH8 100.00 1 NM_002472.3 MYL1 100.00 1 NM_079420.3 MYMK 100.00 1 NM_001080483.3 MYO18B 100.00 1 NM_032608.7 MYO9A 100.00 1 NM_006901.4 MYOT 100.00 1 NM_006790.3 MYPN 100.00 1 NM_032578.3 NDUFA1 100.00 1 NM_004541.4 NDUFA10 100.00 1 NM_004544.4 NDUFA11 100.00 1 NM_175614.5 NDUFA12 100.00 1 NM_018838.5 NDUFA2 100.00 1 NM_002488.5 NDUFA3 100.00 1 NM_004542.4 NDUFA9 100.00 1 NM_005002.5 NDUFAF1 100.00 1 NM_016013.4 NDUFAF2 100.00 1 NM_174889.5 NDUFAF5 100.00 1 NM_024120.5 NDUFAF6 100.00 1 NM_152416.4 NDUFS1 100.00 1 NM_005006.7 NDUFS2 100.00 1 NM_004550.4 NDUFS3 100.00 1 NM_004551.3 NDUFS4 100.00 1 NM_002495.4 NDUFS7 100.00 1 NM_024407.5 NDUFS8 100.00 1 NM_002496.4 NDUFV1 100.00 1 NM_007103.4 NDUFV2 100.00 1 NM_021074.5 NEB 88.00 1 NM_001271208.2 NEFH 100.00 1 NM_021076.4 NUBPL 100.00 1 NM_025152.3 OPTN 100.00 1 NM_001008212.2 ORAI1 100.00 1 NM_032790.3 PABPN1 100.00 1 NM_004643.3 PET100 100.00 1 NM_001171155.2 PFKM 100.00 1 NM_000289.6 PFN1 100.00 1 NM_005022.4 PGAM2 100.00 1 NM_000290.4 PGK1 100.00 1 NM_000291.4 PGM1 100.00 1 NM_002633.3 PHKA1 100.00 1 NM_002637.4 PHKB 100.00 1 NM_000293.3 PHKG1 100.00 1 NM_001258459.1 PIEZO2 100.00 1 NM_022068.3 PIP5K1C 100.00 1 NM_012398.3 PLEC 100.00 1 NM_201380.4 PLEKHG5 100.00 1 NM_001265592.1 PNPLA2 100.00 1 NM_020376.4 PNPLA8 100.00 1 NM_001256007.3 POGLUT1 100.00 1 NM_152305.3 POLG 100.00 1 NM_001126131.2 POLG2 100.00 1 NM_007215.4 POMGNT1 100.00 1 NM_001243766.1 POMGNT2 100.00 1 NM_032806.6 POMK 100.00 1 NM_032237.5 POMT1 100.00 1 NM_001077365.2 POMT2 100.00 1 NM_013382.5 PREPL 100.00 1 NM_001171613.2 PRKAG2 100.00 1 NM_016203.4 PRPH 100.00 1 NM_006262.4 PUS1 100.00 1 NM_025215.6 PYGM 100.00 1 NM_005609.4 PYROXD1 100.00 1 NM_024854.5 RAPSN 100.00 1 NM_005055.5 RBCK1 100.00 1 NM_031229.4 RBM7 100.00 1 NM_001286045.1 REEP1 100.00 1 NM_001371279.1 RNASEH1 100.00 1 NM_002936.5 RRM2B 100.00 1 NM_015713.5 RXYLT1 100.00 1 NM_014254.3 RYR1 100.00 1 NM_000540.3 SCN4A 100.00 1 NM_000334.4 SCO1 100.00 1 NM_004589.4 SCO2 100.00 1 NM_005138.3 SELENON 90.00 1 NM_020451.3 SETX 100.00 1 NM_015046.7 SGCA 100.00 1 NM_000023.4 SGCB 100.00 1 NM_000232.5 SGCD 100.00 1 XM_017009724.1 SGCG 100.00 1 NM_000231.2 SIGMAR1 100.00 1 NM_005866.4 SIL1 100.00 1 NM_022464.5 SLC18A3 100.00 1 NM_003055.3 SLC22A5 100.00 1 NM_003060.4 SLC25A20 100.00 1 NM_000387.6 SLC25A4 100.00 1 NM_001151.4 SLC52A2 100.00 1 NM_001363118.2 SLC52A3 100.00 1 NM_033409.4 SLC5A7 100.00 1 NM_021815.5 SMCHD1 100.00 1 NM_015295.3 SMN1 6.00 0 NM_000344.3+(exon 1 à7 non couvert) SNAP25 100.00 1 NM_130811.4 SOD1 100.00 1 NM_000454.5 SPEG 100.00 1 NM_005876.5 SPG11 100.00 1 NM_025137.4 SPG7 100.00 1 NM_003119.4 SPTBN4 100.00 1 NM_020971.3 SQSTM1 100.00 1 NM_003900.5 STAC3 100.00 1 NM_145064.3 STIM1 100.00 1 NM_001277961.1 SUCLA2 100.00 1 NM_003850.2 SUCLG1 100.00 1 NM_003849.4 SURF1 100.00 1 NM_003172.4 SYNE1 100.00 1 NM_182961.4 SYNE2 100.00 1 NM_182914.2 SYT2 100.00 1 NM_177402.5 TACO1 100.00 1 NM_016360.4 TANGO2 100.00 1 NM_152906.7 TARDBP 100.00 1 NM_007375.4 TARS2 100.00 1 NM_025150.5 TAFAZZIN 100.00 1 NM_000116.5 TCAP 100.00 1 NM_003673.4 TIA1 100.00 1 NM_022173.4 TK2 100.00 1 NM_004614.5 TMEM43 100.00 1 NM_024334.3 TNNI2 100.00 1 NM_003282.4 TNNT1 100.00 1 NM_003283.6 TNNT3 100.00 1 NM_006757.4 TNPO3 100.00 1 NM_012470.3 TOP3A 100.00 1 NM_004618.5 TOR1AIP1 100.00 1 NM_001267578.1 TPM2 100.00 1 NM_003289.4 TPM3 100.00 1 NM_152263.4 TRAPPC11 100.00 1 NM_021942.6 TRIM32 100.00 1 NM_012210.3 TRIM54 100.00 1 NM_187841.3 TRIM63 100.00 1 NM_032588.3 TRIP4 100.00 1 NM_016213.5 TRMT5 100.00 1 NM_020810.3 TRPV4 100.00 1 NM_021625.5 TSFM 100.00 1 NM_005726.6 TTN 100.00 1 NM_001267550.2 TUBA4A 100.00 1 NM_006000.3 TWNK 100.00 1 NM_021830.5 TYMP 100.00 1 NM_001257989.1 UBA1 100.00 1 NM_003334.4 UBQLN2 100.00 1 NM_013444.3 VAMP1 100.00 1 NM_014231.5 VAPB 100.00 1 NM_004738.5 VARS1 100.00 1 NM_001167734.1 VCP 100.00 1 NM_007126.5 VMA21 100.00 1 NM_001363810.1 VPS33B 100.00 1 NM_018668.5 VRK1 100.00 1 NM_003384.3 WARS1 100.00 1 NM_004184.4 XK 100.00 1 NM_021083.4 YARS2 100.00 1 NM_001040436.3 ZC4H2 100.00 1 NM_018684.4 -
Myopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.64 1 ACAD9 99.97 1 ACADM 99.64 1 ACADS 100.00 1 ACADVL 99.94 1 ACTA1 99.99 1 ACTN2 99.96 1 ADSS1 99.99 1 AGK 99.98 1 AGL 99.92 1 AGRN 99.83 1 ALDOA 100.00 1 ALG14 99.97 1 ALG2 99.95 1 ANO5 99.96 1 ANXA11 99.88 1 ASCC1 91.38 1 ATP1A2 99.96 1 ATP2A1 99.97 1 B3GALNT2 94.03 1 B4GAT1 99.95 1 BAG3 100.00 1 BIN1 100.00 1 BVES 99.97 1 CACNA1S 99.92 1 CAP2 99.97 1 CAPN3 99.98 1 CASQ1 99.91 1 CAV3 99.85 1 CAVIN1 99.99 1 CFL2 99.81 1 CHAT 99.77 1 CHD7 99.96 1 CHKB 99.89 1 CHRNA1 99.96 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 99.95 1 CHRNG 99.87 1 CLCN1 99.97 1 CNBP 99.97 1 COL12A1 99.95 1 COL13A1 99.56 1 COL25A1 99.96 1 COL6A1 100.00 1 COL6A2 99.96 1 COL6A3 99.99 1 COLQ 99.97 1 COX6A2 98.51 1 CPT2 99.99 1 CRPPA 99.59 1 CRYAB 99.98 1 DAG1 100.00 1 DCST2 99.92 1 DES 100.00 1 DGUOK 99.76 1 DMD 99.41 1 DMPK 99.98 1 DNAJB6 99.91 1 DNM2 99.96 1 DNMT3B 99.98 1 DOK7 99.73 1 DPAGT1 99.96 1 DPM2 100.00 1 DPM3 100.00 1 DYSF 99.99 1 EMD 97.92 1 ENO3 99.98 1 ETFA 99.84 1 ETFDH 99.76 1 FAM111B 99.99 1 FDX2 99.94 1 FHL1 99.92 1 FKRP 99.99 1 FKTN 99.91 1 FLAD1 100.00 1 FLNC 99.99 1 FXR1 99.81 1 GAA 99.99 1 GBE1 99.84 1 GFER 99.96 1 GFPT1 99.90 1 GGPS1 99.89 1 GMPPB 99.95 1 GNE 99.98 1 GYG1 99.97 1 GYS1 99.98 1 HACD1 99.78 1 HADH 99.97 1 HADHA 99.96 1 HADHB 99.97 1 HNRNPA1 100.00 1 HNRNPA2B1 99.95 1 HNRNPDL 99.92 1 INPP5K 99.99 1 ISCU 99.94 1 ITGA7 99.98 1 ITGA9 99.80 1 JAG2 98.50 1 KBTBD13 100.00 1 KCNJ2 100.00 1 KIF21A 99.80 1 KLHL40 100.00 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 98.80 1 LAMA2 99.97 1 LAMB2 99.99 1 LAMP2 98.98 1 LARGE1 99.99 1 LDB3 98.02 1 LDHA 99.77 1 LIMS2 99.65 1 LMNA 99.98 1 LMOD3 99.96 1 LPIN1 99.97 1 LRP4 99.98 1 MAP3K20 99.92 1 MATR3 99.87 1 MB 99.99 1 MEGF10 99.90 1 MICU1 99.98 1 MLIP 99.94 1 MSTO1 98.87 1 MTM1 99.36 1 MUSK 99.97 1 MYBPC1 99.90 1 MYBPC3 99.98 1 MYH14 99.79 1 MYH2 99.97 1 MYH3 99.96 1 MYH7 100.00 1 MYL1 99.93 1 MYL2 99.98 1 MYMX 100.00 1 MYO18B 99.98 1 MYO9A 99.91 1 MYOD1 99.82 1 MYOT 99.98 1 MYPN 99.97 1 NEB 99.77 1 NPL 99.95 1 OPA1 99.87 1 ORAI1 97.73 1 PABPN1 99.67 1 PAX7 99.96 1 PFKM 99.82 1 PGAM2 100.00 1 PGK1 99.71 1 PGM1 99.89 1 PHKA1 99.57 1 PHKB 99.79 1 PHOX2A 96.75 1 PLEC 99.98 1 PNPLA2 99.99 1 PNPLA8 99.81 1 POGLUT1 99.91 1 POLG 99.98 1 POLG2 99.68 1 POMGNT1 99.98 1 POMGNT2 100.00 1 POMK 99.98 1 POMT1 99.91 1 POMT2 99.93 1 POPDC3 99.93 1 PREPL 99.96 1 PRKAG2 99.92 1 PYGM 99.98 1 PYROXD1 99.83 1 RAPSN 99.99 1 RBCK1 99.99 1 RXYLT1 99.53 1 RYR1 99.92 1 SCN4A 99.77 1 SELENON 95.81 1 SGCA 99.99 1 SGCB 99.62 1 SGCD 99.94 1 SGCG 99.87 1 SIL1 99.99 1 SLC18A3 100.00 1 SLC22A5 99.99 1 SLC25A20 99.90 1 SLC25A4 99.96 1 SLC5A7 99.97 1 SMCHD1 99.82 1 SMPX 99.37 1 SPEG 99.97 1 SQSTM1 100.00 1 STAC3 99.94 1 STIM1 99.97 1 SVIL 99.94 1 SYNE1 99.96 1 SYNE2 99.85 1 SYT2 99.89 1 TCAP 100.00 1 TIA1 99.56 1 TK2 99.99 1 TMEM126B 99.68 1 TMEM43 99.98 1 TNNC2 99.95 1 TNNI2 100.00 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.95 1 TNXB 99.95 1 TOP3A 99.95 1 TOR1AIP1 99.84 1 TPI1 99.95 1 TPM2 99.93 1 TPM3 99.95 1 TRAPPC11 99.59 1 TRDN 99.03 1 TRIM32 100.00 1 TRIP4 99.91 1 TRMT5 99.83 1 TTN 99.96 1 TUBB3 100.00 1 TWNK 100.00 1 UNC45B 99.93 1 VAMP1 99.70 1 VCP 99.92 1 VMA21 97.04 1 VWA1 91.35 1 -
Neurodevelopmental disorders (1300 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 Neurodevelopmental disorders ABCC6 99.95 0 Neurodevelopmental disorders ABCC9 99.93 0 Neurodevelopmental disorders ABCD1 97.56 0 Neurodevelopmental disorders ABCD4 100.00 0 Neurodevelopmental disorders ABCG5 99.99 0 Neurodevelopmental disorders ABHD5 99.85 0 Neurodevelopmental disorders ABI2 100.00 0 Neurodevelopmental disorders ACAD9 100.00 0 Neurodevelopmental disorders ACAT1 93.45 0 Neurodevelopmental disorders ACO2 100.00 0 Neurodevelopmental disorders ACOX1 100.00 0 Neurodevelopmental disorders ACSF3 99.86 0 Neurodevelopmental disorders ACSL4 99.98 0 Neurodevelopmental disorders ACTB 100.00 0 Neurodevelopmental disorders ACTG1 100.00 0 Neurodevelopmental disorders ACVR1 100.00 0 Neurodevelopmental disorders ACY1 100.00 0 Neurodevelopmental disorders ADAR 100.00 0 Neurodevelopmental disorders ADAT3 99.45 0 Neurodevelopmental disorders COQ8A 99.92 0 Neurodevelopmental disorders ADCY5 99.17 0 Neurodevelopmental disorders ADK 100.00 0 Neurodevelopmental disorders ADNP 100.00 0 Neurodevelopmental disorders ADORA1 100.00 0 Neurodevelopmental disorders ADRA2B 100.00 0 Neurodevelopmental disorders ADSL 100.00 0 Neurodevelopmental disorders AFF2 99.91 0 Neurodevelopmental disorders AFF3 100.00 0 Neurodevelopmental disorders AFP 100.00 0 Neurodevelopmental disorders AGA 100.00 0 Neurodevelopmental disorders AGAP2 98.60 0 Neurodevelopmental disorders AGBL4 100.00 0 Neurodevelopmental disorders AGL 100.00 0 Neurodevelopmental disorders AGPAT2 93.10 0 Neurodevelopmental disorders AGXT 100.00 0 Neurodevelopmental disorders AGTR2 100.00 0 Neurodevelopmental disorders AHCY 100.00 0 Neurodevelopmental disorders AHDC1 99.99 0 Neurodevelopmental disorders AHI1 100.00 0 Neurodevelopmental disorders AIFM1 99.98 0 Neurodevelopmental disorders AIMP1 99.97 0 Neurodevelopmental disorders AIMP2 96.68 0 Neurodevelopmental disorders AK1 100.00 0 Neurodevelopmental disorders AKT1 100.00 0 Neurodevelopmental disorders AKT3 100.00 0 Neurodevelopmental disorders ALDH18A1 100.00 0 Neurodevelopmental disorders ALDH3A2 99.94 0 Neurodevelopmental disorders ALDH4A1 96.50 0 Neurodevelopmental disorders ALDH5A1 84.13 0 Neurodevelopmental disorders ALG1 78.28 0 Neurodevelopmental disorders ALG11 100.00 0 Neurodevelopmental disorders ALG12 100.00 0 Neurodevelopmental disorders ALG13 99.53 0 Neurodevelopmental disorders ALG2 99.83 0 Neurodevelopmental disorders ALG3 93.20 0 Neurodevelopmental disorders ALG6 100.00 0 Neurodevelopmental disorders ALG9 98.18 0 Neurodevelopmental disorders ALX1 100.00 0 Neurodevelopmental disorders ALX4 98.04 0 Neurodevelopmental disorders AMER1 99.97 0 Neurodevelopmental disorders AMPD2 99.90 0 Neurodevelopmental disorders AMT 100.00 0 Neurodevelopmental disorders ANK2 99.99 0 Neurodevelopmental disorders ANK3 100.00 0 Neurodevelopmental disorders ANKH 100.00 0 Neurodevelopmental disorders ANKRD11 100.00 0 Neurodevelopmental disorders ANO10 100.00 0 Neurodevelopmental disorders ANO3 100.00 0 Neurodevelopmental disorders ANO5 100.00 0 Neurodevelopmental disorders ANTXR1 99.97 0 Neurodevelopmental disorders AP1S1 100.00 0 Neurodevelopmental disorders AP1S2 100.00 0 Neurodevelopmental disorders AP3B1 100.00 0 Neurodevelopmental disorders AP4B1 100.00 0 Neurodevelopmental disorders AP4E1 99.99 0 Neurodevelopmental disorders AP4M1 100.00 0 Neurodevelopmental disorders AP4S1 100.00 0 Neurodevelopmental disorders APAF1 100.00 0 Neurodevelopmental disorders APC 100.00 0 Neurodevelopmental disorders APOB 98.90 0 Neurodevelopmental disorders APTX 99.96 0 Neurodevelopmental disorders AQP7 99.59 0 Neurodevelopmental disorders AR 100.00 0 Neurodevelopmental disorders ARFGEF2 100.00 0 Neurodevelopmental disorders ARG1 100.00 0 Neurodevelopmental disorders ARHGAP11A 100.00 0 Neurodevelopmental disorders ARHGAP24 99.97 0 Neurodevelopmental disorders ARHGEF2 100.00 0 Neurodevelopmental disorders ARHGEF4 99.85 0 Neurodevelopmental disorders ARHGEF6 100.00 0 Neurodevelopmental disorders ARHGEF9 99.92 0 Neurodevelopmental disorders ARID1A 97.21 0 Neurodevelopmental disorders ARID1B 98.17 0 Neurodevelopmental disorders ARL13B 99.98 0 Neurodevelopmental disorders ARL3 99.80 0 Neurodevelopmental disorders ARL6 100.00 0 Neurodevelopmental disorders ARMC9 100.00 0 Neurodevelopmental disorders ARSL 99.92 0 Neurodevelopmental disorders ARX 88.86 0 Neurodevelopmental disorders ASH1L 100.00 0 Neurodevelopmental disorders ASL 99.96 0 Neurodevelopmental disorders ASNS 97.93 0 Neurodevelopmental disorders ASPA 100.00 0 Neurodevelopmental disorders ASPM 100.00 0 Neurodevelopmental disorders ASS1 98.12 0 Neurodevelopmental disorders ASTN2 98.47 0 Neurodevelopmental disorders ASXL1 99.93 0 Neurodevelopmental disorders ASXL3 100.00 0 Neurodevelopmental disorders ATG5 100.00 0 Neurodevelopmental disorders ATIC 97.39 0 Neurodevelopmental disorders ATL1 99.89 0 Neurodevelopmental disorders ATM 100.00 0 Neurodevelopmental disorders ATP13A2 98.30 0 Neurodevelopmental disorders ATP1A2 99.94 0 Neurodevelopmental disorders ATP2A2 100.00 0 Neurodevelopmental disorders ATP6AP2 98.57 0 Neurodevelopmental disorders ATP6V0A2 99.97 0 Neurodevelopmental disorders ATP7A 100.00 0 Neurodevelopmental disorders ATP8A2 99.91 0 Neurodevelopmental disorders ATRX 99.89 0 Neurodevelopmental disorders ATXN1 100.00 0 Neurodevelopmental disorders ATXN7 98.67 0 Neurodevelopmental disorders AUH 99.24 0 Neurodevelopmental disorders AUTS2 99.82 0 Neurodevelopmental disorders NLRP3 100.00 0 Neurodevelopmental disorders AVPR2 99.37 0 Neurodevelopmental disorders AXIN1 100.00 0 Neurodevelopmental disorders AXL 100.00 0 Neurodevelopmental disorders B3GLCT 94.30 0 Neurodevelopmental disorders B4GAT1 99.99 0 Neurodevelopmental disorders B4GALT1 100.00 0 Neurodevelopmental disorders B4GALT7 90.50 0 Neurodevelopmental disorders BBS1 100.00 0 Neurodevelopmental disorders BBS10 100.00 0 Neurodevelopmental disorders BBS12 100.00 0 Neurodevelopmental disorders BBS2 100.00 0 Neurodevelopmental disorders BBS4 99.97 0 Neurodevelopmental disorders BBS5 100.00 0 Neurodevelopmental disorders BBS7 99.99 0 Neurodevelopmental disorders BBS9 99.93 0 Neurodevelopmental disorders BCKDHA 99.90 0 Neurodevelopmental disorders BCKDHB 100.00 0 Neurodevelopmental disorders BCL11A 100.00 0 Neurodevelopmental disorders BCOR 99.79 0 Neurodevelopmental disorders BCS1L 100.00 0 Neurodevelopmental disorders BIN1 99.94 0 Neurodevelopmental disorders BIRC6 99.99 0 Neurodevelopmental disorders BLM 100.00 0 Neurodevelopmental disorders BRAF 96.83 0 Neurodevelopmental disorders BRCA2 100.00 0 Neurodevelopmental disorders BRD4 99.43 0 Neurodevelopmental disorders BRF1 93.75 0 Neurodevelopmental disorders BRIP1 100.00 0 Neurodevelopmental disorders BRWD3 99.91 0 Neurodevelopmental disorders BSCL2 100.00 0 Neurodevelopmental disorders BTD 100.00 0 Neurodevelopmental disorders BUB1B 100.00 0 Neurodevelopmental disorders TSPOAP1 99.52 0 Neurodevelopmental disorders TWNK 100.00 0 Neurodevelopmental disorders C12ORF57 100.00 0 Neurodevelopmental disorders MTRFR 100.00 0 Neurodevelopmental disorders DIPK2A 98.86 0 Neurodevelopmental disorders CPLANE1 100.00 0 Neurodevelopmental disorders CARNMT1 97.76 0 Neurodevelopmental disorders CA2 99.97 0 Neurodevelopmental disorders CA8 100.00 0 Neurodevelopmental disorders CACNA1A 99.53 0 Neurodevelopmental disorders CACNA1B 99.04 0 Neurodevelopmental disorders CACNA1C 99.97 0 Neurodevelopmental disorders CACNA1D 99.81 0 Neurodevelopmental disorders CACNA1F 99.02 0 Neurodevelopmental disorders CACNA1G 99.97 0 Neurodevelopmental disorders CACNA1H 98.10 0 Neurodevelopmental disorders CACNA2D3 99.31 0 Neurodevelopmental disorders CACNB2 100.00 0 Neurodevelopmental disorders CACNG2 100.00 0 Neurodevelopmental disorders CACNG7 99.94 0 Neurodevelopmental disorders CALM1 100.00 0 Neurodevelopmental disorders CAMTA1 99.98 0 Neurodevelopmental disorders CANT1 100.00 0 Neurodevelopmental disorders CAPN12 100.00 0 Neurodevelopmental disorders CASK 99.99 0 Neurodevelopmental disorders CBL 100.00 0 Neurodevelopmental disorders CBS 99.85 0 Neurodevelopmental disorders CC2D1A 99.45 0 Neurodevelopmental disorders CC2D2A 100.00 0 Neurodevelopmental disorders CCAR2 99.98 0 Neurodevelopmental disorders CCBE1 99.32 0 Neurodevelopmental disorders CFAP53 100.00 0 Neurodevelopmental disorders CCDC174 100.00 0 Neurodevelopmental disorders CCDC22 97.87 0 Neurodevelopmental disorders CCDC39 100.00 0 Neurodevelopmental disorders CCDC78 100.00 0 Neurodevelopmental disorders CCDC88C 99.64 0 Neurodevelopmental disorders CCNT1 100.00 0 Neurodevelopmental disorders CCSER1 100.00 0 Neurodevelopmental disorders CD163L1 99.94 0 Neurodevelopmental disorders CDC42BPB 99.67 0 Neurodevelopmental disorders CDH11 100.00 0 Neurodevelopmental disorders CDH15 94.37 0 Neurodevelopmental disorders CDK5RAP2 100.00 0 Neurodevelopmental disorders CDKL5 99.77 0 Neurodevelopmental disorders CDKN1C 85.53 0 Neurodevelopmental disorders CDON 100.00 0 Neurodevelopmental disorders CELSR1 95.69 0 Neurodevelopmental disorders CENPJ 100.00 0 Neurodevelopmental disorders CEP135 99.96 0 Neurodevelopmental disorders CEP152 100.00 0 Neurodevelopmental disorders CEP290 100.00 0 Neurodevelopmental disorders CEP41 100.00 0 Neurodevelopmental disorders CEP57 100.00 0 Neurodevelopmental disorders CHAMP1 100.00 0 Neurodevelopmental disorders CHAT 99.97 0 Neurodevelopmental disorders CHD1 100.00 0 Neurodevelopmental disorders CHD1L 99.95 0 Neurodevelopmental disorders CHD2 100.00 0 Neurodevelopmental disorders CHD3 97.53 0 Neurodevelopmental disorders CHD4 99.13 0 Neurodevelopmental disorders CHD7 100.00 0 Neurodevelopmental disorders CHD8 100.00 0 Neurodevelopmental disorders CHKB 99.75 0 Neurodevelopmental disorders CHRNA2 99.99 0 Neurodevelopmental disorders CHRNA4 94.66 0 Neurodevelopmental disorders CHRND 100.00 0 Neurodevelopmental disorders CHST11 100.00 0 Neurodevelopmental disorders CIC 99.22 0 Neurodevelopmental disorders CLCN4 100.00 0 Neurodevelopmental disorders CLCN7 95.85 0 Neurodevelopmental disorders CLCNKB 99.96 0 Neurodevelopmental disorders CLIC2 99.96 0 Neurodevelopmental disorders CLIP1 100.00 0 Neurodevelopmental disorders CLN3 100.00 0 Neurodevelopmental disorders CLN5 98.80 0 Neurodevelopmental disorders CLN6 100.00 0 Neurodevelopmental disorders CLN8 100.00 0 Neurodevelopmental disorders CLPB 99.94 0 Neurodevelopmental disorders CMIP 99.43 0 Neurodevelopmental disorders CNKSR2 99.82 0 Neurodevelopmental disorders CNOT1 99.97 0 Neurodevelopmental disorders CNOT3 100.00 0 Neurodevelopmental disorders CNOT4 100.00 0 Neurodevelopmental disorders CNOT6 100.00 0 Neurodevelopmental disorders CNTN3 100.00 0 Neurodevelopmental disorders CNTN4 100.00 0 Neurodevelopmental disorders CNTNAP2 99.10 0 Neurodevelopmental disorders COA3 100.00 0 Neurodevelopmental disorders COG1 99.01 0 Neurodevelopmental disorders COG5 99.95 0 Neurodevelopmental disorders COG6 100.00 0 Neurodevelopmental disorders COG7 100.00 0 Neurodevelopmental disorders COG8 99.96 0 Neurodevelopmental disorders COL11A1 100.00 0 Neurodevelopmental disorders COL1A2 99.33 0 Neurodevelopmental disorders COL25A1 99.96 0 Neurodevelopmental disorders COL27A1 99.65 0 Neurodevelopmental disorders COL4A1 98.48 0 Neurodevelopmental disorders COL4A2 100.00 0 Neurodevelopmental disorders CERT1 99.99 0 Neurodevelopmental disorders COLEC11 100.00 0 Neurodevelopmental disorders COPB2 99.91 0 Neurodevelopmental disorders COQ2 99.66 0 Neurodevelopmental disorders COX10 100.00 0 Neurodevelopmental disorders COX15 99.99 0 Neurodevelopmental disorders CP 100.00 0 Neurodevelopmental disorders CYP2A6 100.00 0 Neurodevelopmental disorders CYP21A2 100.00 0 Neurodevelopmental disorders CRADD 100.00 0 Neurodevelopmental disorders CRBN 100.00 0 Neurodevelopmental disorders CREB1 99.99 0 Neurodevelopmental disorders CREBBP 99.97 0 Neurodevelopmental disorders CSMD1 100.00 0 Neurodevelopmental disorders CSNK2A1 100.00 0 Neurodevelopmental disorders CSTF2T 100.00 0 Neurodevelopmental disorders CTC1 99.70 0 Neurodevelopmental disorders CTCF 100.00 0 Neurodevelopmental disorders CTDP1 92.47 0 Neurodevelopmental disorders CTNNB1 100.00 0 Neurodevelopmental disorders CTSA 99.94 0 Neurodevelopmental disorders CTSD 93.41 0 Neurodevelopmental disorders CTTNBP2 99.83 0 Neurodevelopmental disorders CUBN 100.00 0 Neurodevelopmental disorders CUL3 100.00 0 Neurodevelopmental disorders CUL4B 99.51 0 Neurodevelopmental disorders CUL5 99.99 0 Neurodevelopmental disorders CUX2 99.78 0 Neurodevelopmental disorders CYB5R3 100.00 0 Neurodevelopmental disorders CYFIP1 99.90 0 Neurodevelopmental disorders CYP27A1 99.38 0 Neurodevelopmental disorders D2HGDH 99.95 0 Neurodevelopmental disorders DAG1 100.00 0 Neurodevelopmental disorders DAGLA 99.99 0 Neurodevelopmental disorders DARS2 100.00 0 Neurodevelopmental disorders DBT 100.00 0 Neurodevelopmental disorders DCAF17 96.96 0 Neurodevelopmental disorders DCPS 100.00 0 Neurodevelopmental disorders DCX 99.94 0 Neurodevelopmental disorders DDHD2 100.00 0 Neurodevelopmental disorders DDX11 99.92 0 Neurodevelopmental disorders DDX3X 100.00 0 Neurodevelopmental disorders DEAF1 97.27 0 Neurodevelopmental disorders DHCR24 98.73 0 Neurodevelopmental disorders DHCR7 99.97 0 Neurodevelopmental disorders DHFR 91.86 0 Neurodevelopmental disorders DHTKD1 99.54 0 Neurodevelopmental disorders DHX9 100.00 0 Neurodevelopmental disorders DIAPH1 99.95 0 Neurodevelopmental disorders DIAPH3 100.00 0 Neurodevelopmental disorders DIP2A 99.87 0 Neurodevelopmental disorders DIP2B 99.66 0 Neurodevelopmental disorders DISC1 0.00 0 Neurodevelopmental disorders DKC1 99.88 0 Neurodevelopmental disorders DLD 100.00 0 Neurodevelopmental disorders DLG2 100.00 0 Neurodevelopmental disorders DLG3 99.58 0 Neurodevelopmental disorders DLG4 100.00 0 Neurodevelopmental disorders DLGAP1 99.92 0 Neurodevelopmental disorders DMD 99.96 0 Neurodevelopmental disorders DMPK 99.91 0 Neurodevelopmental disorders DNAH5 100.00 0 Neurodevelopmental disorders DNAJC19 99.65 0 Neurodevelopmental disorders DNM1 93.52 0 Neurodevelopmental disorders DNMT1 99.54 0 Neurodevelopmental disorders DNMT3A 99.73 0 Neurodevelopmental disorders DNMT3B 100.00 0 Neurodevelopmental disorders DOCK6 99.15 0 Neurodevelopmental disorders DOCK8 99.94 0 Neurodevelopmental disorders DPAGT1 100.00 0 Neurodevelopmental disorders DPF2 100.00 0 Neurodevelopmental disorders DPH1 99.97 0 Neurodevelopmental disorders DPM1 100.00 0 Neurodevelopmental disorders DPP6 99.83 0 Neurodevelopmental disorders DPYD 100.00 0 Neurodevelopmental disorders DSCAM 99.93 0 Neurodevelopmental disorders DST 100.00 0 Neurodevelopmental disorders DUSP15 83.59 0 Neurodevelopmental disorders DYM 100.00 0 Neurodevelopmental disorders DYNC1H1 99.92 0 Neurodevelopmental disorders DYRK1A 100.00 0 Neurodevelopmental disorders GLB1 100.00 0 Neurodevelopmental disorders ECM2 100.00 0 Neurodevelopmental disorders EDC3 100.00 0 Neurodevelopmental disorders EFCAB5 99.99 0 Neurodevelopmental disorders EFNB1 100.00 0 Neurodevelopmental disorders EFNB2 100.00 0 Neurodevelopmental disorders EFL1 100.00 0 Neurodevelopmental disorders EFTUD2 99.99 0 Neurodevelopmental disorders EHMT1 97.78 0 Neurodevelopmental disorders EI24 99.67 0 Neurodevelopmental disorders EIF2AK3 96.33 0 Neurodevelopmental disorders EIF2S3 100.00 0 Neurodevelopmental disorders EIF3G 100.00 0 Neurodevelopmental disorders EIF4A1 99.36 0 Neurodevelopmental disorders EIF4G1 100.00 0 Neurodevelopmental disorders ELAVL2 100.00 0 Neurodevelopmental disorders ELK1 99.85 0 Neurodevelopmental disorders ELOVL4 100.00 0 Neurodevelopmental disorders ELP2 100.00 0 Neurodevelopmental disorders EMC1 100.00 0 Neurodevelopmental disorders EML1 98.26 0 Neurodevelopmental disorders EMX2 99.97 0 Neurodevelopmental disorders EN2 99.85 0 Neurodevelopmental disorders EP300 100.00 0 Neurodevelopmental disorders EP400 100.00 0 Neurodevelopmental disorders EPB41L1 100.00 0 Neurodevelopmental disorders EPHA5 99.93 0 Neurodevelopmental disorders EPHB2 96.50 0 Neurodevelopmental disorders ERBIN 100.00 0 Neurodevelopmental disorders ERBB4 100.00 0 Neurodevelopmental disorders ERCC2 99.22 0 Neurodevelopmental disorders ERCC3 100.00 0 Neurodevelopmental disorders ERCC5 100.00 0 Neurodevelopmental disorders ERCC6 100.00 0 Neurodevelopmental disorders ERCC8 100.00 0 Neurodevelopmental disorders ERLIN2 100.00 0 Neurodevelopmental disorders ESCO2 100.00 0 Neurodevelopmental disorders ETFB 100.00 0 Neurodevelopmental disorders ETHE1 97.84 0 Neurodevelopmental disorders EXOC3L2 99.73 0 Neurodevelopmental disorders EXOSC3 100.00 0 Neurodevelopmental disorders EXT1 100.00 0 Neurodevelopmental disorders EZH2 100.00 0 Neurodevelopmental disorders EZR 100.00 0 Neurodevelopmental disorders F5 99.99 0 Neurodevelopmental disorders FAAH2 100.00 0 Neurodevelopmental disorders OTULIN 87.40 0 Neurodevelopmental disorders HYCC1 100.00 0 Neurodevelopmental disorders FAM177A1 100.00 0 Neurodevelopmental disorders FANCB 100.00 0 Neurodevelopmental disorders FANCD2 100.00 0 Neurodevelopmental disorders FANCG 99.98 0 Neurodevelopmental disorders FBLN5 100.00 0 Neurodevelopmental disorders FBN1 100.00 0 Neurodevelopmental disorders FBN2 100.00 0 Neurodevelopmental disorders FBXO31 94.11 0 Neurodevelopmental disorders FBXO33 92.42 0 Neurodevelopmental disorders FEZF2 99.95 0 Neurodevelopmental disorders FGD1 99.24 0 Neurodevelopmental disorders FGF14 100.00 0 Neurodevelopmental disorders FGFR1 99.94 0 Neurodevelopmental disorders FGFR2 100.00 0 Neurodevelopmental disorders FGFR3 99.24 0 Neurodevelopmental disorders FGG 100.00 0 Neurodevelopmental disorders FH 100.00 0 Neurodevelopmental disorders FHIT 100.00 0 Neurodevelopmental disorders FIGN 100.00 0 Neurodevelopmental disorders FKRP 100.00 0 Neurodevelopmental disorders FKTN 100.00 0 Neurodevelopmental disorders FLNA 99.75 0 Neurodevelopmental disorders FLVCR1 100.00 0 Neurodevelopmental disorders FMN2 100.00 0 Neurodevelopmental disorders FMR1 99.99 0 Neurodevelopmental disorders FOLR1 100.00 0 Neurodevelopmental disorders FOXG1 92.10 0 Neurodevelopmental disorders FOXP1 100.00 0 Neurodevelopmental disorders FOXP2 99.61 0 Neurodevelopmental disorders FOXP3 99.44 0 Neurodevelopmental disorders FRAS1 100.00 0 Neurodevelopmental disorders FRMPD4 99.90 0 Neurodevelopmental disorders FRRS1L 82.37 0 Neurodevelopmental disorders FTCD 96.32 0 Neurodevelopmental disorders FTO 100.00 0 Neurodevelopmental disorders FTSJ1 100.00 0 Neurodevelopmental disorders FUCA1 99.91 0 Neurodevelopmental disorders FXR1 99.74 0 Neurodevelopmental disorders G6PC3 100.00 0 Neurodevelopmental disorders GABRA1 100.00 0 Neurodevelopmental disorders GABRA5 100.00 0 Neurodevelopmental disorders GABRB3 100.00 0 Neurodevelopmental disorders GABRG2 91.70 0 Neurodevelopmental disorders GABRG3 99.57 0 Neurodevelopmental disorders GAD1 100.00 0 Neurodevelopmental disorders GALE 100.00 0 Neurodevelopmental disorders GALK1 99.40 0 Neurodevelopmental disorders GALNT18 100.00 0 Neurodevelopmental disorders GALT 100.00 0 Neurodevelopmental disorders GAMT 97.00 0 Neurodevelopmental disorders GAN 98.52 0 Neurodevelopmental disorders GARNL3 100.00 0 Neurodevelopmental disorders GARS1 97.89 0 Neurodevelopmental disorders GAS2 100.00 0 Neurodevelopmental disorders GATAD2B 100.00 0 Neurodevelopmental disorders GATM 98.74 0 Neurodevelopmental disorders GBA1 100.00 0 Neurodevelopmental disorders GBE1 100.00 0 Neurodevelopmental disorders GCH1 99.71 0 Neurodevelopmental disorders GCK 99.13 0 Neurodevelopmental disorders GCOM1 95.06 0 Neurodevelopmental disorders GCSH 73.97 0 Neurodevelopmental disorders GDI1 99.45 0 Neurodevelopmental disorders GFAP 100.00 0 Neurodevelopmental disorders GFM1 100.00 0 Neurodevelopmental disorders GHR 99.41 0 Neurodevelopmental disorders GIGYF1 99.99 0 Neurodevelopmental disorders GIMAP8 100.00 0 Neurodevelopmental disorders GJB1 100.00 0 Neurodevelopmental disorders GJB6 100.00 0 Neurodevelopmental disorders GJC2 96.72 0 Neurodevelopmental disorders GK 98.88 0 Neurodevelopmental disorders GLDC 97.39 0 Neurodevelopmental disorders GLI2 96.28 0 Neurodevelopmental disorders GLI3 100.00 0 Neurodevelopmental disorders GLO1 100.00 0 Neurodevelopmental disorders GLRA1 100.00 0 Neurodevelopmental disorders GLUL 100.00 0 Neurodevelopmental disorders GLYCTK 98.86 0 Neurodevelopmental disorders GM2A 100.00 0 Neurodevelopmental disorders GMPPA 100.00 0 Neurodevelopmental disorders GMPPB 100.00 0 Neurodevelopmental disorders GNAO1 100.00 0 Neurodevelopmental disorders GNAS 100.00 0 Neurodevelopmental disorders GNB1 100.00 0 Neurodevelopmental disorders GNB5 98.67 0 Neurodevelopmental disorders GNPAT 100.00 0 Neurodevelopmental disorders GNPTAB 99.91 0 Neurodevelopmental disorders GNPTG 95.92 0 Neurodevelopmental disorders GNRHR 100.00 0 Neurodevelopmental disorders GNS 100.00 0 Neurodevelopmental disorders GORASP2 99.76 0 Neurodevelopmental disorders GP1BB 44.39 0 Neurodevelopmental disorders GPC3 99.72 0 Neurodevelopmental disorders GPHN 100.00 0 Neurodevelopmental disorders GPKOW 99.98 0 Neurodevelopmental disorders GPR37 100.00 0 Neurodevelopmental disorders ADGRG1 99.99 0 Neurodevelopmental disorders GPT2 97.87 0 Neurodevelopmental disorders GRB2 100.00 0 Neurodevelopmental disorders GRIA3 99.99 0 Neurodevelopmental disorders GRIA4 100.00 0 Neurodevelopmental disorders GRID2 100.00 0 Neurodevelopmental disorders GRIK2 100.00 0 Neurodevelopmental disorders GRIN1 99.80 0 Neurodevelopmental disorders GRIN2A 100.00 0 Neurodevelopmental disorders GRIN2B 100.00 0 Neurodevelopmental disorders GRIN3B 87.60 0 Neurodevelopmental disorders GRM1 99.99 0 Neurodevelopmental disorders GSE1 99.15 0 Neurodevelopmental disorders GSPT2 99.99 0 Neurodevelopmental disorders GSS 100.00 0 Neurodevelopmental disorders GTF2H5 100.00 0 Neurodevelopmental disorders GTF2IRD1 99.04 0 Neurodevelopmental disorders GTF3C1 100.00 0 Neurodevelopmental disorders GTPBP2 99.78 0 Neurodevelopmental disorders GUSB 97.13 0 Neurodevelopmental disorders GYS2 100.00 0 Neurodevelopmental disorders HAL 99.95 0 Neurodevelopmental disorders HAX1 100.00 0 Neurodevelopmental disorders HCCS 100.00 0 Neurodevelopmental disorders HCFC1 99.85 0 Neurodevelopmental disorders HCN1 99.93 0 Neurodevelopmental disorders HDAC4 99.86 0 Neurodevelopmental disorders HDAC6 99.91 0 Neurodevelopmental disorders HDAC8 99.75 0 Neurodevelopmental disorders HDAC9 100.00 0 Neurodevelopmental disorders HECTD1 100.00 0 Neurodevelopmental disorders HECW2 100.00 0 Neurodevelopmental disorders HEPACAM 99.85 0 Neurodevelopmental disorders HERC1 100.00 0 Neurodevelopmental disorders HERC2 97.66 0 Neurodevelopmental disorders HESX1 100.00 0 Neurodevelopmental disorders HEXA 100.00 0 Neurodevelopmental disorders HEXB 99.19 0 Neurodevelopmental disorders H1-4 99.57 0 Neurodevelopmental disorders H4C2 100.00 0 Neurodevelopmental disorders HIVEP2 99.91 0 Neurodevelopmental disorders HIVEP3 100.00 0 Neurodevelopmental disorders HLCS 100.00 0 Neurodevelopmental disorders HMGA2 93.67 0 Neurodevelopmental disorders HNMT 100.00 0 Neurodevelopmental disorders HNRNPH1 100.00 0 Neurodevelopmental disorders HNRNPU 99.82 0 Neurodevelopmental disorders HNRNPUL1 99.31 0 Neurodevelopmental disorders HOXA1 100.00 0 Neurodevelopmental disorders HOXB1 100.00 0 Neurodevelopmental disorders HOXD10 100.00 0 Neurodevelopmental disorders HPD 100.00 0 Neurodevelopmental disorders HPRT1 92.71 0 Neurodevelopmental disorders HRAS 100.00 0 Neurodevelopmental disorders HSD17B10 100.00 0 Neurodevelopmental disorders HSPA4 100.00 0 Neurodevelopmental disorders HSPD1 95.18 0 Neurodevelopmental disorders HTR2A 100.00 0 Neurodevelopmental disorders HUWE1 99.95 0 Neurodevelopmental disorders IARS1 100.00 0 Neurodevelopmental disorders IDH2 93.11 0 Neurodevelopmental disorders IDS 99.88 0 Neurodevelopmental disorders IDUA 91.86 0 Neurodevelopmental disorders IER3IP1 99.44 0 Neurodevelopmental disorders IFT172 100.00 0 Neurodevelopmental disorders IGBP1 99.53 0 Neurodevelopmental disorders IGF1 100.00 0 Neurodevelopmental disorders IGF1R 100.00 0 Neurodevelopmental disorders IKBKG 96.89 0 Neurodevelopmental disorders IL1RAPL1 99.95 0 Neurodevelopmental disorders ILF2 100.00 0 Neurodevelopmental disorders INPP5E 99.14 0 Neurodevelopmental disorders INSR 96.68 0 Neurodevelopmental disorders INTU 100.00 0 Neurodevelopmental disorders IQGAP3 100.00 0 Neurodevelopmental disorders IQSEC2 98.53 0 Neurodevelopmental disorders IRS1 100.00 0 Neurodevelopmental disorders IRX5 98.24 0 Neurodevelopmental disorders CRPPA 95.50 0 Neurodevelopmental disorders ITGA7 100.00 0 Neurodevelopmental disorders ITGB3 99.17 0 Neurodevelopmental disorders ITPR1 99.99 0 Neurodevelopmental disorders ITSN1 99.99 0 Neurodevelopmental disorders JADE2 100.00 0 Neurodevelopmental disorders JAG1 99.87 0 Neurodevelopmental disorders JAM3 99.88 0 Neurodevelopmental disorders JMJD1C 100.00 0 Neurodevelopmental disorders JUP 100.00 0 Neurodevelopmental disorders KANK1 100.00 0 Neurodevelopmental disorders KANSL1 100.00 0 Neurodevelopmental disorders KAT6A 100.00 0 Neurodevelopmental disorders KAT6B 100.00 0 Neurodevelopmental disorders KATNAL2 100.00 0 Neurodevelopmental disorders KATNB1 99.90 0 Neurodevelopmental disorders KCNA1 100.00 0 Neurodevelopmental disorders KCNH1 100.00 0 Neurodevelopmental disorders KCNJ10 100.00 0 Neurodevelopmental disorders KCNJ11 100.00 0 Neurodevelopmental disorders KCNJ6 100.00 0 Neurodevelopmental disorders KCNK9 100.00 0 Neurodevelopmental disorders KCNMA1 99.93 0 Neurodevelopmental disorders KCNQ2 99.92 0 Neurodevelopmental disorders KCNQ3 98.20 0 Neurodevelopmental disorders KCNQ4 94.57 0 Neurodevelopmental disorders KCNT1 98.96 0 Neurodevelopmental disorders KCTD7 100.00 0 Neurodevelopmental disorders KDM1A 99.82 0 Neurodevelopmental disorders KDM5A 100.00 0 Neurodevelopmental disorders KDM5B 100.00 0 Neurodevelopmental disorders KDM5C 99.97 0 Neurodevelopmental disorders KDM6A 99.72 0 Neurodevelopmental disorders KDM6B 99.91 0 Neurodevelopmental disorders RUBCN 96.60 0 Neurodevelopmental disorders KIAA0753 100.00 0 Neurodevelopmental disorders WASHC4 98.56 0 Neurodevelopmental disorders KIAA1109 99.99 0 Neurodevelopmental disorders KIFBP 100.00 0 Neurodevelopmental disorders CIP2A 100.00 0 Neurodevelopmental disorders LNPK 99.88 0 Neurodevelopmental disorders NEXMIF 100.00 0 Neurodevelopmental disorders KIF11 100.00 0 Neurodevelopmental disorders KIF16B 99.96 0 Neurodevelopmental disorders KIF1A 98.74 0 Neurodevelopmental disorders KIF21A 98.54 0 Neurodevelopmental disorders KIF26B 99.95 0 Neurodevelopmental disorders KIF2A 99.97 0 Neurodevelopmental disorders KIF4A 99.86 0 Neurodevelopmental disorders KIF5A 100.00 0 Neurodevelopmental disorders KIF5C 100.00 0 Neurodevelopmental disorders KIF7 99.64 0 Neurodevelopmental disorders KIRREL3 100.00 0 Neurodevelopmental disorders KIT 99.95 0 Neurodevelopmental disorders KLC2 100.00 0 Neurodevelopmental disorders KLF7 100.00 0 Neurodevelopmental disorders KLF8 99.94 0 Neurodevelopmental disorders KMT2A 99.70 0 Neurodevelopmental disorders KMT2C 100.00 0 Neurodevelopmental disorders KMT2D 99.98 0 Neurodevelopmental disorders KMT2E 99.98 0 Neurodevelopmental disorders KPTN 100.00 0 Neurodevelopmental disorders KRAS 100.00 0 Neurodevelopmental disorders KRBOX4 100.00 0 Neurodevelopmental disorders KRT18 72.23 0 Neurodevelopmental disorders KRT24 100.00 0 Neurodevelopmental disorders KRT8 94.97 0 Neurodevelopmental disorders KYNU 100.00 0 Neurodevelopmental disorders L1CAM 99.98 0 Neurodevelopmental disorders L2HGDH 99.75 0 Neurodevelopmental disorders LAMA1 99.79 0 Neurodevelopmental disorders LAMA2 100.00 0 Neurodevelopmental disorders LAMB1 100.00 0 Neurodevelopmental disorders LAMC3 98.42 0 Neurodevelopmental disorders LAMP2 99.60 0 Neurodevelopmental disorders LARGE1 100.00 0 Neurodevelopmental disorders LARP7 100.00 0 Neurodevelopmental disorders LAS1L 99.53 0 Neurodevelopmental disorders LBR 100.00 0 Neurodevelopmental disorders LCT 100.00 0 Neurodevelopmental disorders LHX3 90.58 0 Neurodevelopmental disorders LIG4 100.00 0 Neurodevelopmental disorders LINS1 100.00 0 Neurodevelopmental disorders LMAN2L 100.00 0 Neurodevelopmental disorders LMBRD1 100.00 0 Neurodevelopmental disorders ADGRL2 99.98 0 Neurodevelopmental disorders LRP1 100.00 0 Neurodevelopmental disorders LRP2 99.71 0 Neurodevelopmental disorders LRP5 96.72 0 Neurodevelopmental disorders LRPPRC 98.80 0 Neurodevelopmental disorders LRRC7 100.00 0 Neurodevelopmental disorders LYST 100.00 0 Neurodevelopmental disorders MAGEL2 99.88 0 Neurodevelopmental disorders MAGT1 100.00 0 Neurodevelopmental disorders MAN1B1 99.81 0 Neurodevelopmental disorders MAN2B1 99.30 0 Neurodevelopmental disorders MANBA 99.49 0 Neurodevelopmental disorders MAOA 98.99 0 Neurodevelopmental disorders MAP1B 99.93 0 Neurodevelopmental disorders MAP2 100.00 0 Neurodevelopmental disorders MAP2K1 100.00 0 Neurodevelopmental disorders MAP2K2 99.99 0 Neurodevelopmental disorders MAPK1 99.88 0 Neurodevelopmental disorders MAPK3 99.96 0 Neurodevelopmental disorders MAPRE2 100.00 0 Neurodevelopmental disorders MAPT 100.00 0 Neurodevelopmental disorders MAT1A 100.00 0 Neurodevelopmental disorders MBD3 100.00 0 Neurodevelopmental disorders MBD5 100.00 0 Neurodevelopmental disorders MBTPS2 100.00 0 Neurodevelopmental disorders MCCC1 99.77 0 Neurodevelopmental disorders MCCC2 99.65 0 Neurodevelopmental disorders MCOLN1 95.75 0 Neurodevelopmental disorders MCPH1 99.70 0 Neurodevelopmental disorders MDM2 100.00 0 Neurodevelopmental disorders MECP2 96.46 0 Neurodevelopmental disorders MED12 99.02 0 Neurodevelopmental disorders MED13L 99.95 0 Neurodevelopmental disorders MED17 100.00 0 Neurodevelopmental disorders MED23 99.94 0 Neurodevelopmental disorders MED29 100.00 0 Neurodevelopmental disorders MEF2C 100.00 0 Neurodevelopmental disorders MET 100.00 0 Neurodevelopmental disorders METTL23 100.00 0 Neurodevelopmental disorders MFRP 100.00 0 Neurodevelopmental disorders MFSD8 100.00 0 Neurodevelopmental disorders MGAT2 100.00 0 Neurodevelopmental disorders MIB1 100.00 0 Neurodevelopmental disorders MID1 100.00 0 Neurodevelopmental disorders MID2 100.00 0 Neurodevelopmental disorders MIR222 100.00 0 Neurodevelopmental disorders MKKS 100.00 0 Neurodevelopmental disorders MLH1 100.00 0 Neurodevelopmental disorders MLYCD 96.09 0 Neurodevelopmental disorders MMAA 100.00 0 Neurodevelopmental disorders MMACHC 100.00 0 Neurodevelopmental disorders MMADHC 100.00 0 Neurodevelopmental disorders MMP21 97.88 0 Neurodevelopmental disorders MOCS1 99.94 0 Neurodevelopmental disorders MOCS2 100.00 0 Neurodevelopmental disorders MOGS 98.86 0 Neurodevelopmental disorders MOV10 100.00 0 Neurodevelopmental disorders MPDU1 100.00 0 Neurodevelopmental disorders MPDZ 100.00 0 Neurodevelopmental disorders MPHOSPH8 100.00 0 Neurodevelopmental disorders MPI 100.00 0 Neurodevelopmental disorders MPLKIP 100.00 0 Neurodevelopmental disorders MPZ 99.80 0 Neurodevelopmental disorders MRAP 100.00 0 Neurodevelopmental disorders MRPS22 98.08 0 Neurodevelopmental disorders MSH6 99.89 0 Neurodevelopmental disorders MST1R 100.00 0 Neurodevelopmental disorders MTFMT 97.83 0 Neurodevelopmental disorders MTHFR 100.00 0 Neurodevelopmental disorders MTHFS 94.81 0 Neurodevelopmental disorders MTM1 99.91 0 Neurodevelopmental disorders MTMR2 99.55 0 Neurodevelopmental disorders MTR 100.00 0 Neurodevelopmental disorders MTRR 100.00 0 Neurodevelopmental disorders MMUT 99.99 0 Neurodevelopmental disorders MVK 100.00 0 Neurodevelopmental disorders MYCN 99.89 0 Neurodevelopmental disorders MYH10 100.00 0 Neurodevelopmental disorders MYH7B 99.85 0 Neurodevelopmental disorders MYH9 99.99 0 Neurodevelopmental disorders MYO1E 99.57 0 Neurodevelopmental disorders MYO3A 100.00 0 Neurodevelopmental disorders MYO5A 99.67 0 Neurodevelopmental disorders MYO7A 99.88 0 Neurodevelopmental disorders MYOC 100.00 0 Neurodevelopmental disorders MYT1L 100.00 0 Neurodevelopmental disorders NAA10 96.95 0 Neurodevelopmental disorders NAA15 100.00 0 Neurodevelopmental disorders NAGA 100.00 0 Neurodevelopmental disorders NAGLU 96.69 0 Neurodevelopmental disorders NALCN 100.00 0 Neurodevelopmental disorders NANS 100.00 0 Neurodevelopmental disorders NAV2 100.00 0 Neurodevelopmental disorders NBEA 97.18 0 Neurodevelopmental disorders NBN 100.00 0 Neurodevelopmental disorders NCKAP1 100.00 0 Neurodevelopmental disorders NDE1 100.00 0 Neurodevelopmental disorders NDP 100.00 0 Neurodevelopmental disorders NDST1 100.00 0 Neurodevelopmental disorders NDUFA1 100.00 0 Neurodevelopmental disorders NDUFA10 96.45 0 Neurodevelopmental disorders NDUFA11 80.54 0 Neurodevelopmental disorders NDUFA12 100.00 0 Neurodevelopmental disorders NDUFAF5 99.96 0 Neurodevelopmental disorders NDUFS1 100.00 0 Neurodevelopmental disorders NDUFS2 100.00 0 Neurodevelopmental disorders NDUFS3 100.00 0 Neurodevelopmental disorders NDUFS4 99.96 0 Neurodevelopmental disorders NDUFS7 93.34 0 Neurodevelopmental disorders NDUFS8 100.00 0 Neurodevelopmental disorders NDUFV1 99.62 0 Neurodevelopmental disorders NEDD4L 98.66 0 Neurodevelopmental disorders NEDD9 100.00 0 Neurodevelopmental disorders NEU1 100.00 0 Neurodevelopmental disorders NF1 98.78 0 Neurodevelopmental disorders NFATC1 99.80 0 Neurodevelopmental disorders NFIA 99.95 0 Neurodevelopmental disorders NFIX 94.60 0 Neurodevelopmental disorders NGF 100.00 0 Neurodevelopmental disorders NHEJ1 100.00 0 Neurodevelopmental disorders NHP2 100.00 0 Neurodevelopmental disorders NHS 92.80 0 Neurodevelopmental disorders NIPBL 99.48 0 Neurodevelopmental disorders NKX2-1 97.73 0 Neurodevelopmental disorders NLGN1 100.00 0 Neurodevelopmental disorders NLGN3 99.95 0 Neurodevelopmental disorders NLGN4X 100.00 0 Neurodevelopmental disorders NLGN4Y 60.20 0 Neurodevelopmental disorders NOG 99.95 0 Neurodevelopmental disorders NONO 100.00 0 Neurodevelopmental disorders NOTCH3 93.46 0 Neurodevelopmental disorders NPC1 97.50 0 Neurodevelopmental disorders NPC2 100.00 0 Neurodevelopmental disorders NPHP1 100.00 0 Neurodevelopmental disorders NPHP3 99.99 0 Neurodevelopmental disorders NR2F1 99.99 0 Neurodevelopmental disorders NR3C2 99.99 0 Neurodevelopmental disorders NR4A2 100.00 0 Neurodevelopmental disorders NRAS 100.00 0 Neurodevelopmental disorders NRCAM 100.00 0 Neurodevelopmental disorders NRG3 99.55 0 Neurodevelopmental disorders NRIP1 100.00 0 Neurodevelopmental disorders NRXN1 99.87 0 Neurodevelopmental disorders NRXN2 93.76 0 Neurodevelopmental disorders NSD1 100.00 0 Neurodevelopmental disorders NSDHL 100.00 0 Neurodevelopmental disorders NSUN2 99.69 0 Neurodevelopmental disorders NTRK1 98.36 0 Neurodevelopmental disorders NTRK2 100.00 0 Neurodevelopmental disorders NUAK1 99.69 0 Neurodevelopmental disorders NXF5 98.08 0 Neurodevelopmental disorders OBSL1 99.88 0 Neurodevelopmental disorders OCA2 99.49 0 Neurodevelopmental disorders OCLN 100.00 0 Neurodevelopmental disorders OCRL 98.81 0 Neurodevelopmental disorders ODC1 100.00 0 Neurodevelopmental disorders OFD1 97.13 0 Neurodevelopmental disorders OGT 99.90 0 Neurodevelopmental disorders OPHN1 99.94 0 Neurodevelopmental disorders SLC25A15 100.00 0 Neurodevelopmental disorders OTC 99.17 0 Neurodevelopmental disorders OXTR 92.68 0 Neurodevelopmental disorders PACS1 98.26 0 Neurodevelopmental disorders PAFAH1B1 100.00 0 Neurodevelopmental disorders PAH 100.00 0 Neurodevelopmental disorders PAK3 98.75 0 Neurodevelopmental disorders PANK2 100.00 0 Neurodevelopmental disorders PARD3B 100.00 0 Neurodevelopmental disorders PARP1 100.00 0 Neurodevelopmental disorders PAX1 96.00 0 Neurodevelopmental disorders PAX5 100.00 0 Neurodevelopmental disorders PAX6 100.00 0 Neurodevelopmental disorders PAX8 99.96 0 Neurodevelopmental disorders PBRM1 100.00 0 Neurodevelopmental disorders PODXL 100.00 0 Neurodevelopmental disorders PCDH10 99.96 0 Neurodevelopmental disorders PCDH19 98.99 0 Neurodevelopmental disorders PCGF2 100.00 0 Neurodevelopmental disorders PCLO 100.00 0 Neurodevelopmental disorders PCNT 99.88 0 Neurodevelopmental disorders PDE1C 99.99 0 Neurodevelopmental disorders PDE4D 99.96 0 Neurodevelopmental disorders PDE8B 98.72 0 Neurodevelopmental disorders PDHA1 92.64 0 Neurodevelopmental disorders PDHX 100.00 0 Neurodevelopmental disorders PDSS1 85.11 0 Neurodevelopmental disorders PDSS2 100.00 0 Neurodevelopmental disorders PEPD 97.88 0 Neurodevelopmental disorders PER2 100.00 0 Neurodevelopmental disorders PEX1 100.00 0 Neurodevelopmental disorders PEX10 87.10 0 Neurodevelopmental disorders PEX11B 100.00 0 Neurodevelopmental disorders PEX12 100.00 0 Neurodevelopmental disorders PEX13 100.00 0 Neurodevelopmental disorders PEX16 99.97 0 Neurodevelopmental disorders PEX19 100.00 0 Neurodevelopmental disorders PEX2 100.00 0 Neurodevelopmental disorders PEX26 100.00 0 Neurodevelopmental disorders PEX3 100.00 0 Neurodevelopmental disorders PEX5 100.00 0 Neurodevelopmental disorders PEX6 99.74 0 Neurodevelopmental disorders PEX7 95.60 0 Neurodevelopmental disorders PGA5 100.00 0 Neurodevelopmental disorders PGAP1 100.00 0 Neurodevelopmental disorders PGAP2 100.00 0 Neurodevelopmental disorders PGAP3 98.48 0 Neurodevelopmental disorders PGK1 99.88 0 Neurodevelopmental disorders PHF2 99.95 0 Neurodevelopmental disorders PHF21A 100.00 0 Neurodevelopmental disorders PHF6 100.00 0 Neurodevelopmental disorders PHF8 100.00 0 Neurodevelopmental disorders PHGDH 100.00 0 Neurodevelopmental disorders PHIP 99.68 0 Neurodevelopmental disorders PHKA2 99.88 0 Neurodevelopmental disorders PHKG2 100.00 0 Neurodevelopmental disorders PIAS1 99.99 0 Neurodevelopmental disorders PIGG 100.00 0 Neurodevelopmental disorders PIGL 100.00 0 Neurodevelopmental disorders PIGN 100.00 0 Neurodevelopmental disorders PIGO 100.00 0 Neurodevelopmental disorders PIGS 99.99 0 Neurodevelopmental disorders PIGT 100.00 0 Neurodevelopmental disorders PIGV 100.00 0 Neurodevelopmental disorders PIGW 100.00 0 Neurodevelopmental disorders PIGY 100.00 0 Neurodevelopmental disorders PIK3R2 88.52 0 Neurodevelopmental disorders PLA2G6 100.00 0 Neurodevelopmental disorders PLCB1 100.00 0 Neurodevelopmental disorders PLP1 100.00 0 Neurodevelopmental disorders PLXNB1 100.00 0 Neurodevelopmental disorders PMM2 100.00 0 Neurodevelopmental disorders PNKP 99.84 0 Neurodevelopmental disorders PNP 100.00 0 Neurodevelopmental disorders POC1A 99.00 0 Neurodevelopmental disorders POGZ 100.00 0 Neurodevelopmental disorders POLG 100.00 0 Neurodevelopmental disorders POLR2M 100.00 0 Neurodevelopmental disorders POLR3A 100.00 0 Neurodevelopmental disorders POLR3B 100.00 0 Neurodevelopmental disorders POMC 100.00 0 Neurodevelopmental disorders POMGNT1 100.00 0 Neurodevelopmental disorders POMGNT2 100.00 0 Neurodevelopmental disorders POMT1 100.00 0 Neurodevelopmental disorders POMT2 99.53 0 Neurodevelopmental disorders PORCN 98.59 0 Neurodevelopmental disorders POT1 99.99 0 Neurodevelopmental disorders POU1F1 100.00 0 Neurodevelopmental disorders POU3F3 71.08 0 Neurodevelopmental disorders POU3F4 100.00 0 Neurodevelopmental disorders PPM1D 100.00 0 Neurodevelopmental disorders HCRT 100.00 0 Neurodevelopmental disorders PPP1CB 100.00 0 Neurodevelopmental disorders PPP1R1B 100.00 0 Neurodevelopmental disorders PPP2R1A 100.00 0 Neurodevelopmental disorders PPP2R5D 100.00 0 Neurodevelopmental disorders PPT1 100.00 0 Neurodevelopmental disorders PQBP1 99.91 0 Neurodevelopmental disorders PRICKLE1 100.00 0 Neurodevelopmental disorders PRKAR1A 100.00 0 Neurodevelopmental disorders PRKRA 99.64 0 Neurodevelopmental disorders PRMT7 100.00 0 Neurodevelopmental disorders PRODH 88.26 0 Neurodevelopmental disorders PRPS1 99.91 0 Neurodevelopmental disorders PRR12 99.99 0 Neurodevelopmental disorders PRRT2 100.00 0 Neurodevelopmental disorders PRSS12 100.00 0 Neurodevelopmental disorders PSAP 100.00 0 Neurodevelopmental disorders PSEN1 100.00 0 Neurodevelopmental disorders PTCH1 98.82 0 Neurodevelopmental disorders PTCHD1 99.78 0 Neurodevelopmental disorders PTDSS1 100.00 0 Neurodevelopmental disorders PTEN 99.45 0 Neurodevelopmental disorders PTHLH 100.00 0 Neurodevelopmental disorders PTK7 100.00 0 Neurodevelopmental disorders PTPN11 94.43 0 Neurodevelopmental disorders PUF60 99.31 0 Neurodevelopmental disorders PUM1 100.00 0 Neurodevelopmental disorders PURA 95.47 0 Neurodevelopmental disorders PUS1 100.00 0 Neurodevelopmental disorders PUS3 100.00 0 Neurodevelopmental disorders PUS7 100.00 0 Neurodevelopmental disorders NECTIN1 99.19 0 Neurodevelopmental disorders PYCR1 100.00 0 Neurodevelopmental disorders PYCR2 100.00 0 Neurodevelopmental disorders PYGL 100.00 0 Neurodevelopmental disorders QRICH1 100.00 0 Neurodevelopmental disorders RAB18 99.99 0 Neurodevelopmental disorders RAB27A 100.00 0 Neurodevelopmental disorders RAB39B 100.00 0 Neurodevelopmental disorders RAB3GAP1 100.00 0 Neurodevelopmental disorders RAB3GAP2 100.00 0 Neurodevelopmental disorders RAB40AL 99.91 0 Neurodevelopmental disorders RABL6 99.42 0 Neurodevelopmental disorders NCOA3 88.47 0 Neurodevelopmental disorders RAD21 100.00 0 Neurodevelopmental disorders RAF1 100.00 0 Neurodevelopmental disorders RAI1 93.59 0 Neurodevelopmental disorders RALGAPB 100.00 0 Neurodevelopmental disorders RALGDS 92.25 0 Neurodevelopmental disorders RANBP17 98.10 0 Neurodevelopmental disorders RAPSN 100.00 0 Neurodevelopmental disorders RARS2 100.00 0 Neurodevelopmental disorders RASGEF1B 100.00 0 Neurodevelopmental disorders RBBP8 99.97 0 Neurodevelopmental disorders RBFOX1 98.87 0 Neurodevelopmental disorders RBL2 98.63 0 Neurodevelopmental disorders RBM10 99.23 0 Neurodevelopmental disorders RBM28 98.67 0 Neurodevelopmental disorders RELN 100.00 0 Neurodevelopmental disorders RERE 99.81 0 Neurodevelopmental disorders REV3L 99.86 0 Neurodevelopmental disorders RFT1 99.87 0 Neurodevelopmental disorders RFX3 100.00 0 Neurodevelopmental disorders RFX6 100.00 0 Neurodevelopmental disorders RIC8A 99.98 0 Neurodevelopmental disorders RIMS1 100.00 0 Neurodevelopmental disorders RIT1 100.00 0 Neurodevelopmental disorders RMND1 99.49 0 Neurodevelopmental disorders RMRP 100.00 0 Neurodevelopmental disorders RNASEH2A 100.00 0 Neurodevelopmental disorders RNASEH2B 94.58 0 Neurodevelopmental disorders RNASEH2C 100.00 0 Neurodevelopmental disorders RNASET2 100.00 0 Neurodevelopmental disorders RNF125 99.99 0 Neurodevelopmental disorders RNF213 100.00 0 Neurodevelopmental disorders ROGDI 91.40 0 Neurodevelopmental disorders RP2 99.78 0 Neurodevelopmental disorders RPGRIP1L 96.40 0 Neurodevelopmental disorders RPL15 99.14 0 Neurodevelopmental disorders RPS6KA2 100.00 0 Neurodevelopmental disorders RPS6KA3 96.78 0 Neurodevelopmental disorders RRAS 97.75 0 Neurodevelopmental disorders RTEL1 100.00 0 Neurodevelopmental disorders RTN2 99.44 0 Neurodevelopmental disorders RTN4IP1 100.00 0 Neurodevelopmental disorders RUNX1 99.48 0 Neurodevelopmental disorders RUVBL1 100.00 0 Neurodevelopmental disorders RYR1 99.39 0 Neurodevelopmental disorders RYR2 100.00 0 Neurodevelopmental disorders S100G 98.92 0 Neurodevelopmental disorders SACS 99.95 0 Neurodevelopmental disorders SALL1 100.00 0 Neurodevelopmental disorders SAMHD1 100.00 0 Neurodevelopmental disorders SARDH 99.83 0 Neurodevelopmental disorders SARS2 100.00 0 Neurodevelopmental disorders SATB2 99.34 0 Neurodevelopmental disorders SBF1 98.38 0 Neurodevelopmental disorders SC5D 100.00 0 Neurodevelopmental disorders SCAPER 99.94 0 Neurodevelopmental disorders SCN1A 100.00 0 Neurodevelopmental disorders SCN2A 100.00 0 Neurodevelopmental disorders SCN7A 100.00 0 Neurodevelopmental disorders SCN8A 100.00 0 Neurodevelopmental disorders SCN9A 99.99 0 Neurodevelopmental disorders SCO2 93.85 0 Neurodevelopmental disorders SDCCAG8 100.00 0 Neurodevelopmental disorders SDHA 95.31 0 Neurodevelopmental disorders SDK1 96.50 0 Neurodevelopmental disorders SERAC1 100.00 0 Neurodevelopmental disorders SETBP1 100.00 0 Neurodevelopmental disorders SETD1A 100.00 0 Neurodevelopmental disorders SETD1B 99.89 0 Neurodevelopmental disorders SETD2 100.00 0 Neurodevelopmental disorders SETD5 100.00 0 Neurodevelopmental disorders NR5A1 87.73 0 Neurodevelopmental disorders SFPQ 99.89 0 Neurodevelopmental disorders SGCA 100.00 0 Neurodevelopmental disorders SGSH 99.85 0 Neurodevelopmental disorders SHANK1 99.69 0 Neurodevelopmental disorders SHANK2 100.00 0 Neurodevelopmental disorders SHANK3 90.31 0 Neurodevelopmental disorders SHC1 100.00 0 Neurodevelopmental disorders SHH 99.47 0 Neurodevelopmental disorders SHOC2 100.00 0 Neurodevelopmental disorders SHOX 98.69 0 Neurodevelopmental disorders SHROOM4 99.98 0 Neurodevelopmental disorders SIL1 99.95 0 Neurodevelopmental disorders SIN3A 97.83 0 Neurodevelopmental disorders SIX3 99.61 0 Neurodevelopmental disorders HHAT 92.45 0 Neurodevelopmental disorders SLC12A6 100.00 0 Neurodevelopmental disorders SLC16A2 99.97 0 Neurodevelopmental disorders SLC17A5 100.00 0 Neurodevelopmental disorders SLC1A1 100.00 0 Neurodevelopmental disorders SLC1A4 99.98 0 Neurodevelopmental disorders SLC20A2 100.00 0 Neurodevelopmental disorders SLC24A2 99.82 0 Neurodevelopmental disorders SLC25A1 98.83 0 Neurodevelopmental disorders SLC25A12 100.00 0 Neurodevelopmental disorders SLC25A13 100.00 0 Neurodevelopmental disorders SLC25A22 100.00 0 Neurodevelopmental disorders SLC25A24 99.90 0 Neurodevelopmental disorders SLC26A9 100.00 0 Neurodevelopmental disorders SLC2A1 100.00 0 Neurodevelopmental disorders SLC2A2 99.95 0 Neurodevelopmental disorders SLC33A1 100.00 0 Neurodevelopmental disorders SLC35A2 100.00 0 Neurodevelopmental disorders SLC35C1 100.00 0 Neurodevelopmental disorders SLC39A8 98.92 0 Neurodevelopmental disorders SLC46A1 99.98 0 Neurodevelopmental disorders SLC4A4 100.00 0 Neurodevelopmental disorders SLC5A2 99.99 0 Neurodevelopmental disorders SLC5A5 99.97 0 Neurodevelopmental disorders SLC6A1 100.00 0 Neurodevelopmental disorders SLC6A17 100.00 0 Neurodevelopmental disorders SLC6A3 100.00 0 Neurodevelopmental disorders SLC6A4 100.00 0 Neurodevelopmental disorders SLC6A8 99.41 0 Neurodevelopmental disorders SLC7A7 100.00 0 Neurodevelopmental disorders SLC9A6 99.66 0 Neurodevelopmental disorders SLC9A7 95.89 0 Neurodevelopmental disorders SLC9A9 100.00 0 Neurodevelopmental disorders SLCO1B1 99.89 0 Neurodevelopmental disorders SLCO1B3 99.94 0 Neurodevelopmental disorders SLX4 100.00 0 Neurodevelopmental disorders SMAD2 100.00 0 Neurodevelopmental disorders SMAD4 98.47 0 Neurodevelopmental disorders SMARCA2 98.99 0 Neurodevelopmental disorders SMARCA4 100.00 0 Neurodevelopmental disorders SMARCB1 100.00 0 Neurodevelopmental disorders SMARCC2 100.00 0 Neurodevelopmental disorders SMARCE1 98.46 0 Neurodevelopmental disorders SMC1A 99.87 0 Neurodevelopmental disorders SMC3 100.00 0 Neurodevelopmental disorders SMG6 96.90 0 Neurodevelopmental disorders SMOC1 98.05 0 Neurodevelopmental disorders SMPD1 100.00 0 Neurodevelopmental disorders SNAP29 100.00 0 Neurodevelopmental disorders SNIP1 100.00 0 Neurodevelopmental disorders SNRPA 100.00 0 Neurodevelopmental disorders SNX14 99.98 0 Neurodevelopmental disorders SNX19 99.99 0 Neurodevelopmental disorders SOBP 95.50 0 Neurodevelopmental disorders SON 100.00 0 Neurodevelopmental disorders SOS1 100.00 0 Neurodevelopmental disorders SOS2 99.96 0 Neurodevelopmental disorders SOX10 95.36 0 Neurodevelopmental disorders SOX11 100.00 0 Neurodevelopmental disorders SOX2 95.35 0 Neurodevelopmental disorders SOX3 97.06 0 Neurodevelopmental disorders SOX5 100.00 0 Neurodevelopmental disorders SPAST 99.83 0 Neurodevelopmental disorders AFG2A 99.97 0 Neurodevelopmental disorders SPG11 100.00 0 Neurodevelopmental disorders SPG7 95.78 0 Neurodevelopmental disorders SPR 99.98 0 Neurodevelopmental disorders SPRED1 100.00 0 Neurodevelopmental disorders SPTAN1 100.00 0 Neurodevelopmental disorders SPTLC1 99.27 0 Neurodevelopmental disorders SRCAP 100.00 0 Neurodevelopmental disorders SRD5A3 98.61 0 Neurodevelopmental disorders SREBF2 99.91 0 Neurodevelopmental disorders SRGAP3 100.00 0 Neurodevelopmental disorders SRPX2 99.04 0 Neurodevelopmental disorders ST3GAL3 100.00 0 Neurodevelopmental disorders ST3GAL5 90.70 0 Neurodevelopmental disorders STAG1 100.00 0 Neurodevelopmental disorders STAT5B 100.00 0 Neurodevelopmental disorders STIL 100.00 0 Neurodevelopmental disorders STRA6 100.00 0 Neurodevelopmental disorders STS 99.91 0 Neurodevelopmental disorders STT3A 100.00 0 Neurodevelopmental disorders STT3B 100.00 0 Neurodevelopmental disorders STX11 100.00 0 Neurodevelopmental disorders STXBP1 100.00 0 Neurodevelopmental disorders STXBP5 100.00 0 Neurodevelopmental disorders SUCLA2 99.86 0 Neurodevelopmental disorders SUCLG1 93.27 0 Neurodevelopmental disorders SUOX 100.00 0 Neurodevelopmental disorders SUPT16H 100.00 0 Neurodevelopmental disorders SURF1 82.91 0 Neurodevelopmental disorders KMT5B 100.00 0 Neurodevelopmental disorders SYN1 96.00 0 Neurodevelopmental disorders SYNE1 100.00 0 Neurodevelopmental disorders SYNGAP1 99.76 0 Neurodevelopmental disorders SYNM 92.93 0 Neurodevelopmental disorders SYNPO 100.00 0 Neurodevelopmental disorders SYP 97.84 0 Neurodevelopmental disorders SYT14 92.28 0 Neurodevelopmental disorders SYT3 99.96 0 Neurodevelopmental disorders TAF1 99.98 0 Neurodevelopmental disorders TAF13 100.00 0 Neurodevelopmental disorders TAF2 100.00 0 Neurodevelopmental disorders TAT 100.00 0 Neurodevelopmental disorders TBC1D24 99.99 0 Neurodevelopmental disorders TBC1D7 100.00 0 Neurodevelopmental disorders TBCE 100.00 0 Neurodevelopmental disorders TBCK 100.00 0 Neurodevelopmental disorders TBR1 99.60 0 Neurodevelopmental disorders TBX1 83.55 0 Neurodevelopmental disorders TCF20 100.00 0 Neurodevelopmental disorders TCF3 99.97 0 Neurodevelopmental disorders TCF4 100.00 0 Neurodevelopmental disorders TCF7L2 100.00 0 Neurodevelopmental disorders TDG 100.00 0 Neurodevelopmental disorders TECR 100.00 0 Neurodevelopmental disorders TELO2 98.19 0 Neurodevelopmental disorders TENM1 99.91 0 Neurodevelopmental disorders TET3 100.00 0 Neurodevelopmental disorders TFAP2A 99.96 0 Neurodevelopmental disorders TGFBR1 91.80 0 Neurodevelopmental disorders TGFBR2 100.00 0 Neurodevelopmental disorders TGIF1 100.00 0 Neurodevelopmental disorders TGM1 100.00 0 Neurodevelopmental disorders TH 98.79 0 Neurodevelopmental disorders THOC2 99.62 0 Neurodevelopmental disorders THOC6 100.00 0 Neurodevelopmental disorders THRA 100.00 0 Neurodevelopmental disorders THRB 100.00 0 Neurodevelopmental disorders THSD1 100.00 0 Neurodevelopmental disorders TIMM8A 99.00 0 Neurodevelopmental disorders TINF2 99.94 0 Neurodevelopmental disorders TMCO1 100.00 0 Neurodevelopmental disorders TMEM107 100.00 0 Neurodevelopmental disorders TMEM135 100.00 0 Neurodevelopmental disorders TMEM165 91.64 0 Neurodevelopmental disorders TMEM216 99.87 0 Neurodevelopmental disorders TMEM231 100.00 0 Neurodevelopmental disorders TMEM237 99.85 0 Neurodevelopmental disorders TMEM67 99.95 0 Neurodevelopmental disorders TMEM70 100.00 0 Neurodevelopmental disorders TMLHE 99.11 0 Neurodevelopmental disorders TNIK 100.00 0 Neurodevelopmental disorders TNK2 99.86 0 Neurodevelopmental disorders TNRC6B 99.93 0 Neurodevelopmental disorders TOPORS 100.00 0 Neurodevelopmental disorders TOR1A 99.70 0 Neurodevelopmental disorders TDO2 100.00 0 Neurodevelopmental disorders TPK1 99.99 0 Neurodevelopmental disorders THPO 99.80 0 Neurodevelopmental disorders ACD 99.99 0 Neurodevelopmental disorders TPTE 99.28 0 Neurodevelopmental disorders TRAF7 99.04 0 Neurodevelopmental disorders TRAPPC11 99.97 0 Neurodevelopmental disorders TRAPPC12 99.96 0 Neurodevelopmental disorders TRAPPC9 99.15 0 Neurodevelopmental disorders TREX1 100.00 0 Neurodevelopmental disorders TRHR 100.00 0 Neurodevelopmental disorders TRIM10 100.00 0 Neurodevelopmental disorders TRIM3 100.00 0 Neurodevelopmental disorders TRIM32 100.00 0 Neurodevelopmental disorders TRIO 98.86 0 Neurodevelopmental disorders TRIP12 100.00 0 Neurodevelopmental disorders TRMT10A 100.00 0 Neurodevelopmental disorders TRPM3 100.00 0 Neurodevelopmental disorders TRPM6 100.00 0 Neurodevelopmental disorders TRPV4 100.00 0 Neurodevelopmental disorders TRPV6 100.00 0 Neurodevelopmental disorders TSC1 100.00 0 Neurodevelopmental disorders TSC2 99.94 0 Neurodevelopmental disorders TSEN54 91.60 0 Neurodevelopmental disorders TSHR 100.00 0 Neurodevelopmental disorders TSPAN7 99.05 0 Neurodevelopmental disorders SKIC3 99.99 0 Neurodevelopmental disorders TTC8 99.73 0 Neurodevelopmental disorders TTC9 91.41 0 Neurodevelopmental disorders TTI2 100.00 0 Neurodevelopmental disorders TTN 100.00 0 Neurodevelopmental disorders TTR 100.00 0 Neurodevelopmental disorders TUBA1A 100.00 0 Neurodevelopmental disorders TUBA8 99.98 0 Neurodevelopmental disorders TUBB 100.00 0 Neurodevelopmental disorders TUBB2B 100.00 0 Neurodevelopmental disorders TUBB3 99.01 0 Neurodevelopmental disorders TUBGCP4 99.17 0 Neurodevelopmental disorders TUBGCP6 100.00 0 Neurodevelopmental disorders TUSC3 100.00 0 Neurodevelopmental disorders TWIST1 97.62 0 Neurodevelopmental disorders UBE2A 100.00 0 Neurodevelopmental disorders UBE3A 100.00 0 Neurodevelopmental disorders UBE3B 100.00 0 Neurodevelopmental disorders UBR1 100.00 0 Neurodevelopmental disorders UBTF 100.00 0 Neurodevelopmental disorders UNC50 100.00 0 Neurodevelopmental disorders UNC80 99.98 0 Neurodevelopmental disorders UPB1 100.00 0 Neurodevelopmental disorders UPF3B 99.86 0 Neurodevelopmental disorders UROC1 99.97 0 Neurodevelopmental disorders USP9X 100.00 0 Neurodevelopmental disorders UTP6 100.00 0 Neurodevelopmental disorders VCP 97.10 0 Neurodevelopmental disorders VLDLR 96.00 0 Neurodevelopmental disorders VPS13B 100.00 0 Neurodevelopmental disorders VPS39 99.94 0 Neurodevelopmental disorders VPS4A 100.00 0 Neurodevelopmental disorders VRK1 100.00 0 Neurodevelopmental disorders WAC 100.00 0 Neurodevelopmental disorders WDFY3 100.00 0 Neurodevelopmental disorders WDR11 100.00 0 Neurodevelopmental disorders WDR13 99.05 0 Neurodevelopmental disorders WDR19 100.00 0 Neurodevelopmental disorders WDR26 99.54 0 Neurodevelopmental disorders WDR4 100.00 0 Neurodevelopmental disorders WDR45 100.00 0 Neurodevelopmental disorders WDR45B 99.94 0 Neurodevelopmental disorders WDR62 100.00 0 Neurodevelopmental disorders WDR73 100.00 0 Neurodevelopmental disorders WDR81 99.63 0 Neurodevelopmental disorders NSD2 100.00 0 Neurodevelopmental disorders WNT2 100.00 0 Neurodevelopmental disorders WRN 100.00 0 Neurodevelopmental disorders WWOX 100.00 0 Neurodevelopmental disorders XPA 98.10 0 Neurodevelopmental disorders XPNPEP3 100.00 0 Neurodevelopmental disorders XPO5 100.00 0 Neurodevelopmental disorders XYLT1 89.98 0 Neurodevelopmental disorders YAP1 99.86 0 Neurodevelopmental disorders YEATS2 100.00 0 Neurodevelopmental disorders YTHDC1 99.99 0 Neurodevelopmental disorders YWHAE 91.19 0 Neurodevelopmental disorders YY1 99.76 0 Neurodevelopmental disorders ZBTB11 100.00 0 Neurodevelopmental disorders ZBTB16 100.00 0 Neurodevelopmental disorders ZBTB18 99.54 0 Neurodevelopmental disorders ZBTB20 100.00 0 Neurodevelopmental disorders ZBTB24 100.00 0 Neurodevelopmental disorders ZC3H14 99.55 0 Neurodevelopmental disorders ZC3H4 99.95 0 Neurodevelopmental disorders ZCCHC12 100.00 0 Neurodevelopmental disorders ZDHHC15 98.46 0 Neurodevelopmental disorders ZDHHC9 100.00 0 Neurodevelopmental disorders ZEB2 99.96 0 Neurodevelopmental disorders ZFHX4 100.00 0 Neurodevelopmental disorders ZFP57 100.00 0 Neurodevelopmental disorders ZFYVE26 100.00 0 Neurodevelopmental disorders ZIC2 95.66 0 Neurodevelopmental disorders ZMYM3 99.98 0 Neurodevelopmental disorders ZMYND11 100.00 0 Neurodevelopmental disorders ZPR1 100.00 0 Neurodevelopmental disorders ZNF292 100.00 0 Neurodevelopmental disorders ZNF407 100.00 0 Neurodevelopmental disorders ZNF41 100.00 0 Neurodevelopmental disorders ZNF526 100.00 0 Neurodevelopmental disorders ZNF559 100.00 0 Neurodevelopmental disorders ZNF592 100.00 0 Neurodevelopmental disorders ZNF594 100.00 0 Neurodevelopmental disorders ZNF599 99.76 0 Neurodevelopmental disorders ZNF674 100.00 0 Neurodevelopmental disorders ZNF697 99.70 0 Neurodevelopmental disorders ZNF711 99.98 0 Neurodevelopmental disorders ZNF774 100.00 0 Neurodevelopmental disorders ZNF8 100.00 0 Neurodevelopmental disorders ZNF81 99.55 0 Neurodevelopmental disorders ZNF827 100.00 0 Neurodevelopmental disorders ZNRF3 94.23 0 Neurodevelopmental disorders ZWILCH 100.00 0 Neurodevelopmental disorders -
Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 No comment ABCC6 100.00 0 No comment ABCC9 100.00 0 No comment ABCD1 99.93 0 No comment ABCD4 100.00 0 No comment ABCG5 100.00 0 No comment ABHD5 99.98 0 No comment ABI2 100.00 0 No comment ACAD9 100.00 0 No comment ACAT1 97.28 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACSL4 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADAT3 97.38 0 No comment ADCY5 94.52 0 No comment ADGRG1 100.00 0 No comment ADK 100.00 0 No comment ADNP 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFF2 100.00 0 No comment AFF3 99.89 0 No comment AFP 100.00 0 No comment AGA 100.00 0 No comment AGBL4 100.00 0 No comment AGL 99.98 0 No comment AGPAT2 96.18 0 No comment AGXT 100.00 0 No comment AGTR2 100.00 0 No comment AHCY 100.00 0 No comment AHDC1 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AK1 100.00 0 No comment AKT1 100.00 0 No comment AKT1S1 99.49 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG9 98.65 0 No comment ALX1 100.00 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMPD2 100.00 0 No comment AMT 99.94 0 No comment ANK2 100.00 0 No comment ANK3 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment ANO10 100.00 0 No comment ANO3 100.00 0 No comment ANO5 100.00 0 No comment ANTXR1 100.00 0 No comment AP1S1 100.00 0 No comment AP1S2 100.00 0 No comment AP3B1 100.00 0 No comment AP4B1 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment APAF1 100.00 0 No comment APC 100.00 0 No comment APTX 100.00 0 No comment AQP7 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF4 100.00 0 No comment ARHGEF6 100.00 0 No comment ARHGEF7 99.95 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARID2 100.00 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARSL 100.00 0 No comment ARX 78.98 0 No comment ASH1L 100.00 0 No comment ASL 100.00 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASTN2 91.86 0 No comment ASXL1 99.91 0 No comment ASXL3 100.00 0 No comment ATIC 99.06 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP13A2 99.17 0 No comment ATP1A2 100.00 0 No comment ATP2A2 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ATRX 100.00 0 No comment ATXN1 100.00 0 No comment AUH 96.44 0 No comment AUTS2 98.20 0 No comment NLRP3 100.00 0 No comment AVPR2 100.00 0 No comment AXIN1 100.00 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GALT7 93.23 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCL11A 100.00 0 No comment BCOR 100.00 0 No comment BCS1L 100.00 0 No comment BIN1 100.00 0 No comment BIRC6 100.00 0 No comment BLM 100.00 0 No comment BRAF 96.97 0 No comment BRCA2 100.00 0 No comment BRIP1 100.00 0 No comment BRWD3 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CA2 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1B 96.03 0 No comment CACNA1C 100.00 0 No comment CACNA1D 100.00 0 No comment CACNA1F 99.89 0 No comment CACNA1G 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D3 98.60 0 No comment CACNB2 100.00 0 No comment CACNG2 100.00 0 No comment CALM1 100.00 0 No comment CAMK2B 99.93 0 No comment CAMTA1 99.39 0 No comment CANT1 100.00 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D1A 100.00 0 No comment CC2D2A 98.16 0 No comment CCAR2 100.00 0 No comment CCBE1 99.97 0 No comment CCDC22 99.93 0 No comment CCDC39 100.00 0 No comment CCDC78 100.00 0 No comment CCDC88C 99.92 0 No comment CCNT1 100.00 0 No comment CCSER1 100.00 0 No comment CD163L1 100.00 0 No comment CDH15 97.06 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP55 100.00 0 No comment CEP57 100.00 0 No comment CFAP53 100.00 0 No comment CHAMP1 100.00 0 No comment CHAT 100.00 0 No comment CHD1 100.00 0 No comment CHD2 100.00 0 No comment CHD3 97.58 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRND 100.00 0 No comment CIC 99.99 0 No comment CLCN4 100.00 0 No comment CLCN7 94.99 0 No comment CLCNKB 100.00 0 No comment CLIC2 100.00 0 No comment CLIP1 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CMIP 99.97 0 No comment CNKSR2 100.00 0 No comment CNOT1 100.00 0 No comment CNOT3 100.00 0 No comment CNOT4 100.00 0 No comment CNOT6 100.00 0 No comment CNTN3 100.00 0 No comment CNTN4 100.00 0 No comment CNTNAP2 99.85 0 No comment COG1 99.24 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL11A1 100.00 0 No comment COL1A2 99.93 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CERT1 100.00 0 No comment COLEC11 100.00 0 No comment COQ2 97.15 0 No comment COQ8A 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CP 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CRADD 100.00 0 No comment CRBN 100.00 0 No comment CREB1 100.00 0 No comment CREBBP 100.00 0 No comment CRPPA 95.75 0 No comment CSTF2T 100.00 0 No comment CTC1 100.00 0 No comment CTCF 100.00 0 No comment CTDP1 89.61 0 No comment CTNNB1 100.00 0 No comment CTNND2 93.57 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTTNBP2 99.32 0 No comment CUBN 100.00 0 No comment CUL3 100.00 0 No comment CUL4B 100.00 0 No comment CUL5 100.00 0 No comment CUX2 100.00 0 No comment CYB5R3 96.25 0 No comment CYFIP1 100.00 0 No comment CYP27A1 99.68 0 No comment D2HGDH 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DAGLA 100.00 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCAF17 96.47 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX11 100.00 0 No comment DDX3X 100.00 0 No comment DEAF1 87.03 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DHTKD1 99.98 0 No comment DHX9 100.00 0 No comment DIAPH1 99.15 0 No comment DIAPH3 100.00 0 No comment DIP2A 99.92 0 No comment DIP2B 99.88 0 No comment DIPK2A 99.79 0 No comment DISC1 86.36 0 No comment DKC1 100.00 0 No comment DLD 100.00 0 No comment DLG2 100.00 0 No comment DLG3 99.83 0 No comment DLG4 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNAH5 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1 94.44 0 No comment DNMT1 100.00 0 No comment DNMT3A 100.00 0 No comment DNMT3B 100.00 0 No comment DOCK8 99.43 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPP6 96.95 0 No comment DPYD 100.00 0 No comment DSCAM 100.00 0 No comment DST 100.00 0 No comment DUSP15 83.99 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment GLB1 100.00 0 No comment ECM2 100.00 0 No comment EFCAB5 97.32 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EIF3G 100.00 0 No comment EIF4A1 100.00 0 No comment EIF4G1 100.00 0 No comment ELK1 100.00 0 No comment ELOVL4 100.00 0 No comment ELP2 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EN2 88.10 0 No comment EP300 100.00 0 No comment EP400 100.00 0 No comment EPB41L1 100.00 0 No comment EPHA5 99.98 0 No comment EPHB2 97.39 0 No comment ERBB4 100.00 0 No comment ERCC2 100.00 0 No comment ERCC3 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERCC8 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment ETFB 100.00 0 No comment ETHE1 99.88 0 No comment EXOSC3 100.00 0 No comment EXT1 100.00 0 No comment EZH2 100.00 0 No comment EZR 100.00 0 No comment F5 100.00 0 No comment FAAH2 100.00 0 No comment HYCC1 100.00 0 No comment FANCB 100.00 0 No comment FANCD2 100.00 0 No comment FANCG 100.00 0 No comment FBLN5 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXO31 91.75 0 No comment FBXO33 90.47 0 No comment FEZF2 97.53 0 No comment FGD1 99.39 0 No comment FGF12 100.00 0 No comment FGF14 99.99 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIGN 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR1 100.00 0 No comment FMN2 99.94 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXP1 100.00 0 No comment FOXP2 100.00 0 No comment FOXP3 100.00 0 No comment FRAS1 100.00 0 No comment FRMPD4 100.00 0 No comment FTCD 98.36 0 No comment FTO 100.00 0 No comment FTSJ1 100.00 0 No comment FUCA1 100.00 0 No comment G6PC3 100.00 0 No comment GABRA1 100.00 0 No comment GABRA5 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRG2 92.03 0 No comment GABRG3 99.96 0 No comment GAD1 100.00 0 No comment GALE 100.00 0 No comment GALK1 99.95 0 No comment GALNT18 100.00 0 No comment GALT 100.00 0 No comment GAMT 98.60 0 No comment GAN 99.52 0 No comment GARS1 99.53 0 No comment GAS2 100.00 0 No comment GATAD2B 100.00 0 No comment GATM 99.26 0 No comment GBA1 100.00 0 No comment GBE1 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCOM1 94.20 0 No comment GCSH 76.04 0 No comment GDI1 100.00 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GHR 99.82 0 No comment GIGYF1 100.00 0 No comment GJB1 99.54 0 No comment GJB6 100.00 0 No comment GJC2 81.91 0 No comment GK 99.94 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLO1 100.00 0 No comment GLRA1 100.00 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPA 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNAQ 100.00 0 No comment GNAS 98.96 0 No comment GNPAT 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNRHR 100.00 0 No comment GNS 100.00 0 No comment GORASP2 99.92 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GPR37 100.00 0 No comment GPT2 96.29 0 No comment GRIA3 100.00 0 No comment GRID2 100.00 0 No comment GRIK2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN3B 86.11 0 No comment GRM1 100.00 0 No comment GSE1 99.97 0 No comment GSPT2 100.00 0 No comment GSS 100.00 0 No comment GTF2H5 100.00 0 No comment GTF2IRD1 100.00 0 No comment GTF3C1 100.00 0 No comment GUSB 100.00 0 No comment GYS2 100.00 0 No comment HAL 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 100.00 0 No comment HCN1 95.88 0 No comment HDAC4 100.00 0 No comment HDAC6 100.00 0 No comment HDAC8 100.00 0 No comment HDAC9 100.00 0 No comment HECTD1 100.00 0 No comment HECW2 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HERC2 99.62 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment H4C2 100.00 0 No comment HIVEP2 100.00 0 No comment HLCS 100.00 0 No comment HMGA2 81.94 0 No comment HNRNPU 99.54 0 No comment HNRNPUL1 99.73 0 No comment HOXA1 100.00 0 No comment HOXB1 100.00 0 No comment HOXD10 100.00 0 No comment HPD 100.00 0 No comment HPRT1 94.60 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA4 100.00 0 No comment HSPD1 99.53 0 No comment HTR2A 100.00 0 No comment HUWE1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFT172 100.00 0 No comment IGBP1 100.00 0 No comment IGF1 100.00 0 No comment IGF1R 100.00 0 No comment IKBKG 99.74 0 No comment IL1RAPL1 100.00 0 No comment ILF2 100.00 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IRS1 100.00 0 No comment IRX5 94.92 0 No comment ITGA7 100.00 0 No comment ITGB3 97.94 0 No comment ITPR1 100.00 0 No comment JADE2 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANK1 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNAL2 100.00 0 No comment KCNA1 100.00 0 No comment KCNH1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK9 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNQ4 92.42 0 No comment KCNT1 99.74 0 No comment KCTD7 97.35 0 No comment KDM5A 100.00 0 No comment KDM5B 100.00 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KDM6B 99.91 0 No comment BLTP1 100.00 0 No comment KIF11 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF21A 99.23 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KIRREL3 100.00 0 No comment KIT 100.00 0 No comment KLC2 100.00 0 No comment KLF8 100.00 0 No comment KMT2A 98.66 0 No comment KMT2C 100.00 0 No comment KMT2D 100.00 0 No comment KMT2E 100.00 0 No comment KMT5B 100.00 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRBOX4 100.00 0 No comment KRT24 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA1 99.93 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LAMP2 100.00 0 No comment LARGE1 100.00 0 No comment LARP7 100.00 0 No comment LAS1L 100.00 0 No comment LBR 100.00 0 No comment LCT 100.00 0 No comment LHX3 94.36 0 No comment LIG4 100.00 0 No comment LINS1 100.00 0 No comment LMBRD1 100.00 0 No comment LRP1 100.00 0 No comment LRP2 99.96 0 No comment LRP5 97.87 0 No comment LRPPRC 99.14 0 No comment LRRC7 100.00 0 No comment LYST 100.00 0 No comment MACF1 100.00 0 No comment MAGEL2 99.43 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAN2B1 100.00 0 No comment MANBA 99.97 0 No comment MAOA 99.95 0 No comment MAP2 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK1 93.93 0 No comment MAPT 100.00 0 No comment MAT1A 100.00 0 No comment MBD3 99.22 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCCC2 99.99 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MDM2 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED13L 100.00 0 No comment MED17 100.00 0 No comment MED23 100.00 0 No comment MEF2C 100.00 0 No comment MET 100.00 0 No comment METTL23 100.00 0 No comment MFRP 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MIB1 100.00 0 No comment MID1 100.00 0 No comment MID2 100.00 0 No comment MIR222 100.00 0 No comment MKKS 100.00 0 No comment MLH1 100.00 0 No comment MLYCD 85.50 0 No comment MMAA 100.00 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MMUT 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPHOSPH8 100.00 0 No comment MPI 100.00 0 No comment MPLKIP 100.00 0 No comment MPZ 100.00 0 No comment MRAP 100.00 0 No comment MRPS22 100.00 0 No comment MSH6 100.00 0 No comment MTFMT 99.11 0 No comment MTHFR 100.00 0 No comment MTHFS 99.64 0 No comment MTM1 100.00 0 No comment MTMR2 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MVK 100.00 0 No comment MYCN 86.70 0 No comment MYH7B 100.00 0 No comment MYH9 100.00 0 No comment MYO1E 99.92 0 No comment MYO3A 100.00 0 No comment MYO5A 99.60 0 No comment MYO7A 100.00 0 No comment MYOC 100.00 0 No comment MYT1L 100.00 0 No comment NAA10 96.03 0 No comment NAA15 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NBN 100.00 0 No comment NCKAP1 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDST1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NECTIN1 100.00 0 No comment NEDD4L 100.00 0 No comment NEU1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFATC1 99.84 0 No comment NFIA 100.00 0 No comment NFIX 97.15 0 No comment NGF 100.00 0 No comment NHEJ1 100.00 0 No comment NHP2 100.00 0 No comment NHS 93.25 0 No comment NIPBL 99.98 0 No comment NKX2-1 92.46 0 No comment NLGN1 100.00 0 No comment NLGN3 100.00 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NOG 100.00 0 No comment NOTCH3 92.99 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NR2F1 92.00 0 No comment NR3C2 100.00 0 No comment NR4A2 100.00 0 No comment NRAS 100.00 0 No comment NRCAM 100.00 0 No comment NRXN1 98.52 0 No comment NRXN2 88.11 0 No comment NSD1 100.00 0 No comment NSD2 100.00 0 No comment NSDHL 100.00 0 No comment NSUN2 99.70 0 No comment NTRK1 98.72 0 No comment NTRK2 100.00 0 No comment NUAK1 99.97 0 No comment NUS1 100.00 0 No comment NXF5 100.00 0 No comment OBSL1 98.31 0 No comment OCA2 100.00 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment OTC 100.00 0 No comment OXTR 91.19 0 No comment PACS1 96.93 0 No comment PAFAH1B1 100.00 0 No comment PAH 99.94 0 No comment PAK3 100.00 0 No comment PANK2 98.60 0 No comment PARP1 100.00 0 No comment PAX1 89.02 0 No comment PAX5 100.00 0 No comment PAX6 100.00 0 No comment PAX8 100.00 0 No comment PBRM1 100.00 0 No comment PODXL 100.00 0 No comment PCDH10 100.00 0 No comment PCDH19 99.91 0 No comment PCGF2 100.00 0 No comment PCNT 100.00 0 No comment PDE1C 100.00 0 No comment PDE4D 98.77 0 No comment PDE8B 96.32 0 No comment PDHA1 98.17 0 No comment PDHX 99.87 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PEPD 99.77 0 No comment PER2 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PGA5 100.00 0 No comment PGAP1 100.00 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PHF2 99.71 0 No comment PHF21A 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PHGDH 100.00 0 No comment PHIP 99.09 0 No comment PHKA2 100.00 0 No comment PHKG2 100.00 0 No comment PIAS1 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGT 100.00 0 No comment PIGV 100.00 0 No comment PIK3R2 89.19 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 100.00 0 No comment PNP 100.00 0 No comment POC1A 99.95 0 No comment POGZ 100.00 0 No comment POLG 100.00 0 No comment POLR2M 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POT1 100.00 0 No comment POU1F1 100.00 0 No comment POU3F4 100.00 0 No comment PPM1D 100.00 0 No comment HCRT 100.00 0 No comment PPP1R1B 100.00 0 No comment PPP2R1A 100.00 0 No comment PPP2R5D 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKAR1A 100.00 0 No comment PRKRA 90.07 0 No comment PRODH 86.43 0 No comment PRPS1 100.00 0 No comment PRRT2 100.00 0 No comment PRSS12 99.65 0 No comment PSAP 100.00 0 No comment PSEN1 100.00 0 No comment PTCH1 98.48 0 No comment PTCHD1 99.99 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTHLH 100.00 0 No comment PTPN11 98.80 0 No comment PUF60 99.86 0 No comment PURA 85.32 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYGL 100.00 0 No comment RAB11A 100.00 0 No comment RAB18 100.00 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RABL6 99.93 0 No comment RAC1 93.90 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RALGDS 94.60 0 No comment RANBP17 98.90 0 No comment RAPSN 100.00 0 No comment RARS2 100.00 0 No comment RASGEF1B 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBL2 99.65 0 No comment RBM10 100.00 0 No comment RBM28 99.99 0 No comment RELN 99.96 0 No comment RERE 99.97 0 No comment RFT1 100.00 0 No comment RFX3 100.00 0 No comment RFX6 100.00 0 No comment RIC8A 100.00 0 No comment RIMS1 99.79 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment RNF213 100.00 0 No comment ROGDI 91.80 0 No comment RP2 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL15 100.00 0 No comment RPS6KA2 98.15 0 No comment RPS6KA3 98.71 0 No comment RTEL1 100.00 0 No comment RTN2 99.98 0 No comment RUBCN 97.68 0 No comment RUNX1 99.96 0 No comment RUVBL1 100.00 0 No comment RYR1 98.38 0 No comment RYR2 100.00 0 No comment S100G 100.00 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SAMHD1 100.00 0 No comment SARS2 100.00 0 No comment SATB2 100.00 0 No comment SBF1 98.81 0 No comment SC5D 100.00 0 No comment SCAPER 100.00 0 No comment SCN1A 100.00 0 No comment SCN2A 100.00 0 No comment SCN7A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDCCAG8 100.00 0 No comment SDHA 98.02 0 No comment SDK1 95.93 0 No comment SERAC1 100.00 0 No comment SERPINB12 100.00 0 No comment SETBP1 99.99 0 No comment SETD5 100.00 0 No comment NR5A1 86.69 0 No comment SFPQ 98.66 0 No comment SGCA 100.00 0 No comment SGSH 99.99 0 No comment SHANK1 96.45 0 No comment SHANK2 100.00 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHOX 90.47 0 No comment SHROOM4 100.00 0 No comment SIL1 100.00 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment HHAT 90.28 0 No comment SLC12A6 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC1A1 100.00 0 No comment SLC1A4 97.95 0 No comment SLC20A2 100.00 0 No comment SLC24A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC26A9 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC33A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC46A1 99.95 0 No comment SLC4A4 100.00 0 No comment SLC5A2 100.00 0 No comment SLC5A5 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A17 100.00 0 No comment SLC6A3 100.00 0 No comment SLC6A4 100.00 0 No comment SLC6A8 98.78 0 No comment SLC7A7 100.00 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SLCO1B1 100.00 0 No comment SLCO1B3 100.00 0 No comment SLX4 100.00 0 No comment SMAD2 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCC2 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMG6 97.90 0 No comment SMOC1 99.36 0 No comment SMPD1 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SNX14 100.00 0 No comment SNX19 100.00 0 No comment SOBP 87.96 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX11 99.01 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX5 100.00 0 No comment SPAST 100.00 0 No comment SPG11 100.00 0 No comment SPG7 96.56 0 No comment SPR 96.81 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SPTLC1 99.99 0 No comment SRCAP 100.00 0 No comment SRD5A3 99.42 0 No comment SREBF2 100.00 0 No comment SRGAP3 100.00 0 No comment SRPX2 100.00 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STAG1 100.00 0 No comment STAT5B 100.00 0 No comment STIL 100.00 0 No comment STRA6 100.00 0 No comment STS 100.00 0 No comment STT3A 100.00 0 No comment STT3B 99.25 0 No comment STX11 100.00 0 No comment STXBP1 100.00 0 No comment STXBP5 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUOX 100.00 0 No comment SUPT16H 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNE1 100.00 0 No comment SYNGAP1 100.00 0 No comment SYP 99.27 0 No comment SYT14 93.04 0 No comment SYT3 100.00 0 No comment TAF1 100.00 0 No comment TAF2 100.00 0 No comment TAT 100.00 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TBCE 100.00 0 No comment TBR1 94.13 0 No comment TBX1 77.39 0 No comment TCF20 100.00 0 No comment TCF3 100.00 0 No comment TCF4 100.00 0 No comment TCF7L2 99.98 0 No comment TECR 100.00 0 No comment TENM1 100.00 0 No comment TFAP2A 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TGM1 100.00 0 No comment TH 99.95 0 No comment THOC2 99.99 0 No comment THOC6 100.00 0 No comment THRA 100.00 0 No comment THRB 100.00 0 No comment TIMM8A 100.00 0 No comment TINF2 100.00 0 No comment TMCO1 100.00 0 No comment TMEM107 100.00 0 No comment TMEM135 100.00 0 No comment TMEM165 89.91 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TMLHE 100.00 0 No comment TNK2 100.00 0 No comment TNRC6B 100.00 0 No comment TOPORS 100.00 0 No comment TOR1A 99.99 0 No comment TDO2 100.00 0 No comment TPK1 100.00 0 No comment THPO 99.84 0 No comment ACD 100.00 0 No comment TRAPPC10 99.93 0 No comment TRAPPC11 100.00 0 No comment TRAPPC9 99.98 0 No comment TREX1 100.00 0 No comment TRHR 100.00 0 No comment TRIM10 100.00 0 No comment TRIM3 100.00 0 No comment TRIM32 100.00 0 No comment TRIO 97.46 0 No comment TRIP12 100.00 0 No comment TRMT1 100.00 0 No comment TRMT10A 100.00 0 No comment TRPM6 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TSHR 100.00 0 No comment TSPAN7 99.99 0 No comment TSPOAP1 99.98 0 No comment SKIC3 100.00 0 No comment TTC8 100.00 0 No comment TTI1 100.00 0 No comment TTI2 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TUSC3 100.00 0 No comment TWIST1 70.93 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UBR1 100.00 0 No comment UBTF 100.00 0 No comment UPB1 100.00 0 No comment UPF3B 100.00 0 No comment UROC1 100.00 0 No comment USP9X 100.00 0 No comment UTP6 100.00 0 No comment VCP 98.45 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment VPS39 100.00 0 No comment VPS4A 100.00 0 No comment VRK1 100.00 0 No comment WAC 100.00 0 No comment WASHC4 99.72 0 No comment WDFY3 100.00 0 No comment WDR11 100.00 0 No comment WDR13 100.00 0 No comment WDR19 100.00 0 No comment WDR26 100.00 0 No comment WDR45 100.00 0 No comment WDR45B 100.00 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT2 100.00 0 No comment WRN 100.00 0 No comment WWOX 100.00 0 No comment XPA 99.35 0 No comment XPNPEP3 93.18 0 No comment XPO5 100.00 0 No comment XYLT1 88.83 0 No comment YAP1 96.50 0 No comment YEATS2 100.00 0 No comment YWHAE 98.69 0 No comment YY1 99.92 0 No comment ZBTB16 100.00 0 No comment ZBTB18 100.00 0 No comment ZBTB20 100.00 0 No comment ZBTB24 100.00 0 No comment ZC3H14 100.00 0 No comment ZC3H4 99.94 0 No comment ZCCHC12 100.00 0 No comment ZDHHC15 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFHX4 100.00 0 No comment ZFP57 100.00 0 No comment ZFYVE26 100.00 0 No comment ZIC2 80.54 0 No comment ZMYM3 100.00 0 No comment ZMYND11 100.00 0 No comment ZNF292 100.00 0 No comment ZNF407 100.00 0 No comment ZNF41 100.00 0 No comment ZNF526 100.00 0 No comment ZNF559 100.00 0 No comment ZNF592 100.00 0 No comment ZNF594 100.00 0 No comment ZNF599 100.00 0 No comment ZNF674 100.00 0 No comment ZNF697 95.04 0 No comment ZNF711 100.00 0 No comment ZNF774 100.00 0 No comment ZNF8 100.00 0 No comment ZNF81 100.00 0 No comment ZNF827 100.00 0 No comment -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Neuromuscular disorders (232 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 88.70 0 NM_001271208.1 SELENON 92.30 0 NM_020451.2 TSEN54 97.70 0 NM_207346.2 DOK7 97.90 0 NM_173660.4 ORAI1 97.90 0 NM_032790.3 CRPPA 98.60 0 NM_001101426.3 PGAM2 98.80 0 NM_000290.3 AGRN 99.00 0 NM_198576.3 HSPB1 99.00 0 NM_001540.4 POMT2 99.00 0 NM_013382.5 CACNA1H 99.10 0 NM_021098.2 RYR1 99.10 0 NM_000540.2 SPTBN4 99.30 0 NM_020971.2 TNNT1 99.50 0 NM_003283.5 HSPG2 99.50 0 NM_005529.6 CAPN3 99.60 0 NM_000070.2 GMPPB 99.60 0 NM_013334.3 ACADVL 99.60 0 NM_000018.3 LAMA5 99.60 0 NM_005560.4 B3GALNT2 99.70 0 NM_152490.4 SCN4A 99.70 0 NM_000334.4 ISCU 99.70 0 NM_213595.3 MATR3 99.70 0 NM_199189.2 SLC16A1 99.80 0 NM_003051.3 COL6A1 99.80 0 NM_001848.2 CHD8 99.80 0 NM_001170629.1 RAPSN 99.80 0 NM_005055.4 CACNA1A 99.80 0 NM_001127221.1 MYH7B 99.80 0 NM_024729.3 DCST2 99.80 0 NM_144622.2 CHRNE 99.80 0 NM_000080.3 SGCG 99.90 0 NM_000231.2 DYSF 99.90 0 NM_003494.3 MYL2 99.90 0 NM_000432.3 CHRNA1 99.90 0 NM_000079.3 ECEL1 99.90 0 NM_004826.3 PNPLA2 99.90 0 NM_020376.3 FXR1 99.90 0 NM_005087.3 TTN 99.90 0 NM_133378.4 PNPLA8 99.90 0 NM_015723.4 ATP2A1 99.90 0 NM_173201.3 COL6A2 99.90 0 NM_001849.3 MYBPC3 99.90 0 NM_000256.3 VCP 99.90 0 NM_007126.4 TRDN 99.90 0 NM_006073.3 GYS1 99.90 0 NM_002103.4 ALG13 99.90 0 NM_001099922.2 MYO18B 99.90 0 NM_032608.6 TK2 99.90 0 NM_004614.4 PHKB 99.90 0 NM_000293.2 SYT2 99.90 0 NM_177402.4 LDHA 99.90 0 NM_005566.3 LMNA 99.90 0 NM_170707.3 CFL2 99.90 0 NM_021914.7 TIA1 100.00 0 NM_022173.3 MYF6 100.00 0 NM_002469.2 KCNJ18 100.00 0 NM_001194958.2 DPM1 100.00 0 NM_003859.2 HNRNPDL 100.00 0 NM_031372.3 TPM2 100.00 0 NM_003289.3 CACNA1S 100.00 0 NM_000069.2 FLNC 100.00 0 NM_001458.4 CHRNB1 100.00 0 NM_000747.2 CCDC78 100.00 0 NM_001031737.2 ETFA 100.00 0 NM_000126.3 DNAJB6 100.00 0 NM_058246.3 DMPK 100.00 0 NM_001081563.2 CORIN 100.00 0 NM_002334.3 HACD1 100.00 0 NM_014241.3 EMD 100.00 0 NM_000117.2 TRIP4 100.00 0 NM_016213.4 MYL1 100.00 0 NM_079420.2 ETFDH 100.00 0 NM_004453.3 FKRP 100.00 0 NM_024301.4 DNA2 100.00 0 NM_001080449.2 PLEC 100.00 0 NM_000445.4 PABPN1 100.00 0 NM_004643.3 SPEG 100.00 0 NM_005876.4 ITGA7 100.00 0 NM_002206.2 POMT1 100.00 0 NM_007171.3 GFPT1 100.00 0 NM_002056.3 SYNE1 100.00 0 NM_033071.3 LPIN1 100.00 0 NM_145693.3 ENO3 100.00 0 NM_053013.3 GOLGA2 100.00 0 NM_004486.4 CHKB 100.00 0 NM_005198.4 AMPD1 100.00 0 NM_000036.2 ACTA1 100.00 0 NM_001100.3 ACVR1 100.00 0 NM_001105.4 HADHB 100.00 0 NM_000183.2 KCNA1 100.00 0 NM_000217.2 ANO5 100.00 0 NM_213599.2 INPP5K 100.00 0 NM_016532.3 SMCHD1 100.00 0 NM_015295.2 ADSS1 100.00 0 NM_199165.2 TRIM63 100.00 0 NM_032588.3 COL13A1 100.00 0 NM_001130103.1 TOP3A 100.00 0 NM_004618.4 COL12A1 100.00 0 NM_004370.5 MYPN 100.00 0 NM_032578.3 SYNE2 100.00 0 NM_182914.2 ACTN2 100.00 0 NM_001103.3 PREPL 100.00 0 NM_006036.4 MYH3 100.00 0 NM_002470.3 SGCB 100.00 0 NM_000232.4 PHKA1 100.00 0 NM_002637.3 CLCN1 100.00 0 NM_000083.2 KBTBD13 100.00 0 NM_001101362.2 CHAT 100.00 0 NM_020549.4 AGL 100.00 0 NM_000642.2 MUSK 100.00 0 NM_005592.3 CASQ1 100.00 0 NM_001231.4 ACADS 100.00 0 NM_000017.3 PYGM 100.00 0 NM_005609.3 GAA 100.00 0 NM_000152.4 TRAPPC11 100.00 0 NM_021942.5 MYO9A 100.00 0 NM_006901.3 COL6A3 100.00 0 NM_004369.3 DMD 100.00 0 NM_004006.2 MYH7 100.00 0 NM_000257.3 MYBPC1 100.00 0 NM_002465.3 RYR3 100.00 0 NM_001036.4 ABHD5 100.00 0 NM_016006.5 ACAD9 100.00 0 NM_014049.4 ACADL 100.00 0 NM_001608.3 ACADM 100.00 0 NM_000016.5 ALDOA 100.00 0 NM_000034.3 ALG14 100.00 0 NM_144988.3 ALG2 100.00 0 NM_033087.3 ATP1A2 100.00 0 NM_000702.3 B4GAT1 100.00 0 NM_006876.2 BAG3 100.00 0 NM_004281.3 BIN1 100.00 0 NM_139343.2 BVES 100.00 0 NM_007073.4 CAV3 100.00 0 NM_033337.2 CAVIN1 100.00 0 NM_012232.5 CHRND 100.00 0 NM_000751.2 CHRNG 100.00 0 NM_005199.4 CNTN1 100.00 0 NM_001843.3 COLQ 100.00 0 NM_005677.3 CPT2 100.00 0 NM_000098.2 CRYAB 100.00 0 NM_001885.2 DAG1 100.00 0 NM_004393.5 DES 100.00 0 NM_001927.3 DNM2 100.00 0 NM_001005360.2 DOLK 100.00 0 NM_014908.3 DPAGT1 100.00 0 NM_001382.3 DPM2 100.00 0 NM_003863.3 DPM3 100.00 0 NM_153741.1 ETFB 100.00 0 NM_001985.2 EXOSC3 100.00 0 NM_016042.3 CFH 100.00 0 NM_001449.4 FKBP14 100.00 0 NM_017946.3 FKTN 100.00 0 NM_001079802.1 FLAD1 100.00 0 NM_025207.4 GBE1 100.00 0 NM_000158.3 GGPS1 100.00 0 NM_001037277.1 GNE 100.00 0 NM_001128227.2 GYG1 100.00 0 NM_004130.3 HADH 100.00 0 NM_005327.4 HADHA 100.00 0 NM_000182.4 HINT1 100.00 0 NM_005340.6 HNRNPA1 100.00 0 NM_031157.3 HNRNPA2B1 100.00 0 NM_031243.2 HRAS 100.00 0 NM_005343.3 HSPB8 100.00 0 NM_014365.2 KCNE3 100.00 0 NM_005472.4 KCNJ2 100.00 0 NM_000891.2 KLHL40 100.00 0 NM_152393.3 KLHL41 100.00 0 NM_006063.2 KLHL9 100.00 0 NM_018847.3 KY 100.00 0 NM_178554.5 LAMA2 100.00 0 NM_000426.3 LAMB2 100.00 0 NM_002292.3 LAMP2 100.00 0 NM_002294.2 LARGE1 100.00 0 NM_004737.6 LDB3 100.00 0 NM_001080116.1 LIMS2 100.00 0 NM_001136037.2 LMOD3 100.00 0 NM_198271.4 MAP3K20 100.00 0 NM_016653.2 MB 100.00 0 NM_005368.2 MEGF10 100.00 0 NM_032446.2 MSTN 100.00 0 NM_005259.2 MTM1 100.00 0 NM_000252.2 MTMR14 100.00 0 NM_022485.4 MYH2 100.00 0 NM_017534.5 MYH8 100.00 0 NM_002472.2 MYMK 100.00 0 NM_001080483.2 MYOT 100.00 0 NM_006790.2 MED12 100.00 0 NM_015560.2 P4HA1 100.00 0 NM_001017962.2 PAX7 100.00 0 NM_002584.2 PDHA1 100.00 0 NM_000284.3 PFKM 100.00 0 NM_000289.5 PGK1 100.00 0 NM_000291.3 PGM1 100.00 0 NM_002633.2 POGLUT1 100.00 0 NM_152305.2 POLG 100.00 0 NM_002693.2 POLG2 100.00 0 NM_007215.3 POMGNT1 100.00 0 NM_017739.3 POMGNT2 100.00 0 NM_032806.5 POMK 100.00 0 NM_032237.4 POPDC3 100.00 0 NM_022361.4 PRKAG2 100.00 0 NM_016203.3 PYROXD1 100.00 0 NM_024854.4 RBCK1 100.00 0 NM_031229.3 RXYLT1 100.00 0 NM_014254.2 SBDS 100.00 0 NM_016038.3 SGCA 100.00 0 NM_000023.3 SGCD 100.00 0 NM_000337.5 SIL1 100.00 0 NM_022464.4 SLC18A3 100.00 0 NM_003055.2 SLC22A5 100.00 0 NM_003060.3 SLC25A20 100.00 0 NM_000387.5 SLC5A7 100.00 0 NM_021815.4 SNAP25 100.00 0 NM_130811.3 SQSTM1 100.00 0 NM_003900.4 STAC3 100.00 0 NM_145064.2 STIM1 100.00 0 NM_003156.3 WWTR1 100.00 0 NM_000116.4 TCAP 100.00 0 NM_003673.3 TMEM126B 100.00 0 NM_018480.5 TMEM43 100.00 0 NM_024334.2 TNNI2 100.00 0 NM_003282.3 TNNT3 100.00 0 NM_006757.3 TNPO3 100.00 0 NM_012470.3 TOR1AIP1 100.00 0 NM_001267578.1 TPM3 100.00 0 NM_152263.3 TRIM32 100.00 0 NM_012210.3 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.4 VMA21 100.00 0 NM_001017980.3 -
Neuromuscular disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.98 1 ACAD9 100.00 1 ACADL 99.11 1 ACADM 96.14 1 ACADS 99.99 1 ACADVL 100.00 1 ACTA1 99.99 1 ACTN2 99.99 1 ACVR1 99.94 1 ADCY6 99.98 1 ADGRG6 99.91 1 ADSS1 99.99 1 AGL 97.67 1 AGRN 99.99 1 ALDOA 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 AMPD1 98.94 1 ANO5 99.85 1 APOO 99.69 1 ASAH1 99.90 1 ASCC1 90.99 1 ASPH 99.92 1 ATP2A1 99.83 1 B3GALNT2 92.79 1 B4GAT1 100.00 1 BAG3 100.00 1 BET1 99.38 1 BIN1 99.98 1 BSCL2 99.99 1 BVES 99.83 1 CACNA1H 100.00 1 CACNA1S 99.96 1 CAPN3 99.99 1 CASQ1 99.62 1 CAV3 100.00 1 CAVIN1 100.00 1 CCDC78 100.00 1 CFL2 99.67 1 CHAT 99.74 1 CHCHD10 100.00 1 CHKB 100.00 1 CHRNA1 99.82 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 100.00 1 CHRNG 100.00 1 CLCN1 100.00 1 CLN3 99.92 1 CLPP 99.99 1 CNTN1 99.35 1 COL12A1 99.85 1 COL13A1 99.95 1 COL4A1 99.99 1 COL6A1 99.99 1 COL6A2 100.00 1 COL6A3 99.99 1 COL9A3 99.99 1 COLQ 99.98 1 CPT2 99.65 1 CRPPA 99.98 1 CRYAB 100.00 1 DAG1 100.00 1 DES 100.00 1 DGUOK 99.93 1 DHX16 99.98 1 DMD 99.76 1 DMPK 99.93 1 DNAJB6 99.97 1 DNM2 99.99 1 DNMT3B 99.98 1 DOK7 99.97 1 DOLK 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPM3 99.98 1 DYSF 99.95 1 ECEL1 100.00 1 EMD 99.93 1 ENO3 100.00 1 EPG5 99.95 1 ETFA 99.88 1 ETFB 100.00 1 ETFDH 99.82 1 FAM111B 99.98 1 FDX2 99.99 1 CFH 99.97 1 FKBP14 99.97 1 FKRP 100.00 1 FKTN 99.94 1 FLAD1 99.98 1 FLNC 99.99 1 FXR1 99.82 1 GAA 100.00 1 GBE1 99.73 1 GFER 100.00 1 GFPT1 99.79 1 GGPS1 99.95 1 GLDN 99.98 1 GLE1 99.99 1 GMPPB 100.00 1 GNE 99.99 1 GOLGA2 100.00 1 GOSR2 98.92 1 GYG1 99.85 1 GYS1 99.98 1 HACD1 99.98 1 HADHA 99.98 1 HADHB 99.82 1 HEXB 99.91 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 HNRNPDL 99.98 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HTRA2 99.99 1 INPP5K 99.94 1 ISCU 99.74 1 ITGA7 99.87 1 KBTBD13 100.00 1 KLHL40 99.96 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 99.97 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMB2 99.99 1 LAMP2 98.95 1 LARGE1 100.00 1 LARS2 99.96 1 LAS1L 99.97 1 LDB3 99.91 1 LDHA 99.94 1 LGI4 99.98 1 LIMS2 99.97 1 LMNA 99.96 1 LMOD3 99.91 1 LOXL4 99.92 1 LPIN1 99.96 1 LRIF1 99.82 1 CORIN 99.89 1 MAP3K20 99.84 1 MB 99.99 1 MCOLN1 100.00 1 MEGF10 99.91 1 MET 99.97 1 MICU1 99.56 1 MPDU1 99.97 1 MRPS25 99.97 1 MSTN 99.96 1 MSTO1 76.34 1 MTM1 99.76 1 MTMR14 99.99 1 MUSK 99.93 1 MYBPC1 99.77 1 MYBPC3 99.98 1 MYF5 99.99 1 MYH7B 99.98 1 MYH2 99.98 1 MYH3 99.99 1 MYH7 99.99 1 MYH8 100.00 1 MYL1 99.75 1 MYL2 99.99 1 MYMK 99.88 1 MYO18B 99.98 1 MYO9A 99.93 1 MYOT 99.93 1 MYPN 99.88 1 NEB 87.33 1 NEFL 100.00 1 ORAI1 99.63 1 PABPN1 99.99 1 PAX7 99.83 1 PEX6 99.99 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKB 99.69 1 PIEZO2 98.45 1 PLEC 100.00 1 PNPLA2 100.00 1 PNPLA8 99.92 1 POGLUT1 99.99 1 POLG 100.00 1 POLG2 99.51 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 POPDC3 99.96 1 PREPL 99.63 1 PRKAG2 99.96 1 PTRH2 99.99 1 PUS1 100.00 1 PYGM 99.96 1 PYROXD1 99.77 1 RAPSN 99.97 1 RBCK1 100.00 1 RRM2B 99.97 1 RXYLT1 99.48 1 RYR1 99.97 1 RYR3 99.98 1 SCN4A 99.98 1 SELENON 93.61 1 SGCA 100.00 1 SGCB 99.95 1 SGCD 100.00 1 SGCG 99.99 1 SIL1 99.95 1 SLC16A1 99.26 1 SLC18A3 99.99 1 SLC22A5 99.99 1 SLC25A1 99.93 1 SLC25A20 100.00 1 SLC25A4 100.00 1 SLC25A42 99.99 1 SLC5A7 99.57 1 SMCHD1 99.83 1 SMPX 99.80 1 SNAP25 99.89 1 SPEG 99.99 1 SPTBN4 99.91 1 SQSTM1 100.00 1 STAC3 99.91 1 STIM1 99.99 1 SUCLA2 99.96 1 SVIL 99.98 1 SYNE1 99.95 1 SYNE2 99.95 1 SYT2 99.93 1 TARDBP 100.00 1 TCAP 100.00 1 TFAM 99.24 1 TIA1 99.72 1 TIMM22 100.00 1 TK2 99.96 1 TMEM43 99.96 1 TMEM65 99.93 1 TNNC2 99.99 1 TNNI2 99.99 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.96 1 TNXB 90.86 1 TOR1AIP1 98.45 1 TPM2 100.00 1 TPM3 83.21 1 TRAPPC11 99.93 1 TRIM32 100.00 1 TRIM54 89.88 1 TRIP4 99.97 1 TSEN54 100.00 1 TSFM 100.00 1 TTN 99.15 1 TYMP 99.87 1 UNC45B 100.00 1 VAMP1 100.00 1 VCP 99.99 1 VMA21 99.90 1 VPS33B 99.95 1 YARS2 99.93 1 ZBTB42 100.00 1 ZC4H2 99.98 1