- Analytes
- MAN2C1
MAN2C1
Name: |
mannosidase alpha class 2C member 1
|
Symbol: |
MAN2C1
|
Version of Orphanet: |
2023-06-22 14:14:43
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XREF(s): | |
Created: |
17 May 2022 - 02:40
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Changed: |
22 Jun 2023 - 16:14
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Intellectual disability (gene panel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.98 1 AARS1 99.94 1 AARS2 100.00 1 AASS 99.89 1 ABAT 99.95 1 ABCA2 100.00 1 ABCC9 99.91 1 ABCD1 100.00 1 ABCD4 99.97 1 ABHD16A 100.00 1 ABHD5 99.95 1 ACAD9 99.96 1 ACADS 100.00 1 ACAT1 99.57 1 ACBD6 99.95 1 ACER3 99.97 1 ACO2 100.00 1 ACOX1 99.87 1 ACSF3 99.98 1 ACSL4 99.48 1 ACTB 100.00 1 ACTG1 100.00 1 ACTL6A 99.98 1 ACTL6B 100.00 1 ACVR1 99.93 1 ACY1 100.00 1 ADAM22 99.93 1 ADAMTS9 99.94 1 ADAR 99.98 1 ADARB1 94.86 1 ADAT3 100.00 1 ADCY5 99.99 1 ADD1 99.98 1 ADD3 99.96 1 ADGRG1 100.00 1 ADGRG6 99.94 1 ADGRL1 100.00 1 ADK 99.89 1 ADNP 99.93 1 ADPRS 100.00 1 ADRA2B 100.00 1 ADSL 99.97 1 AFF2 99.48 1 AFF3 99.99 1 AFF4 99.89 1 AFG3L2 99.94 1 AGA 99.96 1 AGO1 99.96 1 AGO2 99.80 1 AGPS 99.77 1 AGTR2 99.79 1 AHCY 100.00 1 AHDC1 100.00 1 AHI1 99.91 1 AIFM1 99.64 1 AIMP1 99.96 1 AIMP2 99.28 1 AKT3 99.93 1 ALDH18A1 99.97 1 ALDH3A2 99.90 1 ALDH4A1 100.00 1 ALDH5A1 99.95 1 ALDH7A1 99.95 1 ALG1 100.00 1 ALG11 99.95 1 ALG12 100.00 1 ALG13 99.42 1 ALG14 99.98 1 ALG2 99.91 1 ALG3 99.99 1 ALG6 99.95 1 ALG8 96.45 1 ALG9 93.98 1 ALKBH8 99.95 1 ALMS1 99.94 1 ALPL 100.00 1 ALX4 100.00 1 AMACR 99.98 1 AMER1 100.00 1 AMPD2 100.00 1 AMT 100.00 1 ANK2 99.93 1 ANK3 99.93 1 ANKH 99.99 1 ANKLE2 99.90 1 ANKRD11 100.00 1 ANKRD17 99.96 1 ANO10 99.96 1 ANTXR1 99.98 1 AP1B1 100.00 1 AP1G1 99.92 1 AP1S1 100.00 1 AP1S2 99.13 1 AP2M1 99.99 1 AP2S1 100.00 1 AP3B1 99.98 1 AP3B2 99.99 1 AP4B1 99.97 1 AP4E1 99.96 1 AP4M1 99.99 1 AP4S1 87.74 1 APC2 99.98 1 APTX 99.91 1 ARCN1 99.93 1 ARF1 100.00 1 ARFGEF1 99.94 1 ARFGEF2 99.90 1 ARG1 99.99 1 ARHGAP31 99.97 1 ARHGEF2 99.99 1 ARHGEF9 99.78 1 ARID1A 99.97 1 ARID1B 99.57 1 ARID2 99.96 1 ARL13B 93.61 1 ARL3 99.99 1 ARL6 99.97 1 ARMC9 99.94 1 ARPC4 99.84 1 ARSA 100.00 1 ARV1 99.33 1 ARX 99.46 1 ASAH1 99.96 1 ASH1L 99.92 1 ASL 100.00 1 ASNS 99.98 1 ASPA 99.94 1 ASPM 99.93 1 ASS1 100.00 1 ASXL1 99.96 1 ASXL2 99.94 1 ASXL3 99.99 1 ATAD1 99.88 1 ATAD3A 99.97 1 ATG7 99.97 1 ATIC 99.96 1 ATL1 99.91 1 ATM 99.94 1 ATN1 100.00 1 ATP13A2 100.00 1 ATP1A1 99.93 1 ATP1A2 100.00 1 ATP1A3 100.00 1 ATP2A2 99.97 1 ATP2B1 99.91 1 ATP5F1A 99.99 1 ATP5F1D 100.00 1 ATP5PO 99.98 1 ATP6AP2 99.65 1 ATP6V0A1 99.91 1 ATP6V0A2 99.99 1 ATP6V0C 100.00 1 ATP6V1A 99.92 1 ATP6V1B2 99.93 1 ATP7A 99.63 1 ATP8A2 99.97 1 ATP9A 99.98 1 ATR 99.95 1 ATRX 99.52 1 AUH 100.00 1 AUTS2 99.99 1 AVPR2 100.00 1 B3GALNT2 95.48 1 B3GALT6 94.28 1 B3GLCT 99.82 1 B4GALNT1 100.00 1 B4GALT1 99.92 1 B4GALT7 99.91 1 B4GAT1 100.00 1 B9D2 100.00 1 BAP1 99.99 1 BAZ2B 99.95 1 BBS1 99.99 1 BBS10 100.00 1 BBS12 99.92 1 BBS2 99.93 1 BBS4 99.88 1 BBS5 99.96 1 BBS7 99.97 1 BBS9 99.93 1 BCAP31 99.76 1 BCAS3 99.97 1 BCKDHA 100.00 1 BCKDHB 99.97 1 BCKDK 100.00 1 BCL11A 99.98 1 BCL11B 99.93 1 BCOR 99.84 1 BCORL1 99.96 1 BCS1L 100.00 1 BICD2 100.00 1 BICRA 100.00 1 BLM 99.89 1 BLOC1S1 100.00 1 BMP4 99.98 1 BOLA3 100.00 1 BPTF 99.75 1 BRAF 99.89 1 BRAT1 100.00 1 BRD4 100.00 1 BRF1 100.00 1 BRPF1 100.00 1 BRSK2 99.98 1 BRWD3 99.78 1 BSCL2 100.00 1 BTD 99.97 1 BUB1 99.96 1 BUB1B 99.95 1 C12ORF4 99.96 1 C12ORF57 100.00 1 C2CD3 99.95 1 C2orf69 99.94 1 CA2 99.93 1 CA8 99.97 1 CACNA1A 99.99 1 CACNA1B 100.00 1 CACNA1C 99.99 1 CACNA1D 99.94 1 CACNA1E 99.97 1 CACNA1G 100.00 1 CACNA1I 99.93 1 CACNA2D1 99.91 1 CACNA2D2 100.00 1 CAD 99.99 1 CAMK2A 100.00 1 CAMK2B 100.00 1 CAMK2G 97.96 1 CAMK4 99.95 1 CAMSAP1 99.96 1 CAMTA1 99.98 1 CAPN10 100.00 1 CAPN15 100.00 1 CAPRIN1 99.96 1 CAPZA2 99.98 1 CARS1 100.00 1 CARS2 99.56 1 CASK 99.76 1 CASP2 99.98 1 CBL 99.93 1 CBS 100.00 1 CC2D1A 100.00 1 CC2D2A 98.14 1 CCBE1 100.00 1 CCDC115 100.00 1 CCDC174 99.92 1 CCDC186 99.88 1 CCDC22 100.00 1 CCDC32 99.96 1 CCDC47 99.89 1 CCDC78 100.00 1 CCDC82 99.97 1 CCDC88A 99.87 1 CCDC88C 100.00 1 CCND2 100.00 1 CCNK 97.47 1 CDC42 99.98 1 CDC42BPB 99.98 1 CDC6 99.93 1 CDH11 99.97 1 CDH15 100.00 1 CDH2 99.96 1 CDK10 100.00 1 CDK13 99.90 1 CDK19 99.98 1 CDK5RAP2 99.93 1 CDK8 99.95 1 CDKL5 99.64 1 CDON 99.92 1 CDT1 99.35 1 CELF2 99.93 1 CELSR3 100.00 1 CENPF 99.91 1 CENPJ 99.91 1 CEP104 99.92 1 CEP120 99.93 1 CEP135 99.90 1 CEP152 99.96 1 CEP290 99.86 1 CEP41 99.95 1 CEP55 99.94 1 CEP57 99.95 1 CEP63 99.95 1 CEP83 99.82 1 CEP85L 99.94 1 CERS1 99.99 1 CERT1 99.92 1 CHAMP1 99.98 1 CHD1 99.92 1 CHD2 99.93 1 CHD3 99.93 1 CHD4 99.90 1 CHD5 100.00 1 CHD7 99.94 1 CHD8 99.97 1 CHKA 97.76 1 CHKB 99.87 1 CHL1 99.87 1 CHMP1A 100.00 1 CHRNA2 100.00 1 CHRNA4 100.00 1 CHRNB2 99.94 1 CIC 99.97 1 CIT 99.95 1 CKAP2L 99.92 1 CLCN3 99.95 1 CLCN4 99.94 1 CLCN6 99.96 1 CLDN5 100.00 1 CLEC16A 99.94 1 CLIC2 99.87 1 CLIP1 99.93 1 CLN3 100.00 1 CLN5 99.84 1 CLN6 99.88 1 CLN8 100.00 1 CLP1 100.00 1 CLPB 99.99 1 CLTC 99.94 1 CNKSR2 99.57 1 CNNM2 99.99 1 CNOT1 99.92 1 CNOT2 99.98 1 CNOT3 100.00 1 CNOT9 90.66 1 CNPY3 100.00 1 CNTN2 100.00 1 CNTNAP1 100.00 1 CNTNAP2 99.96 1 COA8 99.86 1 COASY 100.00 1 COG1 99.98 1 COG3 99.93 1 COG4 99.97 1 COG5 99.93 1 COG6 99.98 1 COG7 99.94 1 COG8 100.00 1 COL18A1 100.00 1 COL3A1 99.98 1 COL4A1 99.99 1 COL4A2 99.99 1 COLEC11 100.00 1 COLGALT1 98.63 1 COPB1 99.95 1 COPB2 99.94 1 COQ2 99.92 1 COQ4 100.00 1 COQ6 99.90 1 COQ8A 100.00 1 COQ9 99.98 1 COX10 100.00 1 COX15 99.92 1 COX6B1 100.00 1 CPA6 99.98 1 CPE 99.84 1 CPLANE1 99.95 1 CPLX1 100.00 1 CPS1 99.95 1 CPSF3 99.95 1 CPT2 99.99 1 CRADD 99.84 1 CRB2 100.00 1 CRBN 99.96 1 CREBBP 99.96 1 CRIPT 100.00 1 CRMP1 99.96 1 CSDE1 99.97 1 CSF1R 99.99 1 CSNK1G1 99.92 1 CSNK2A1 99.94 1 CSNK2B 100.00 1 CSPP1 99.96 1 CSTB 100.00 1 CTBP1 99.98 1 CTC1 99.99 1 CTCF 99.94 1 CTDP1 99.72 1 CTNNA2 99.96 1 CTNNB1 99.95 1 CTR9 99.97 1 CTSA 100.00 1 CTSD 100.00 1 CTSF 100.00 1 CTTNBP2 99.97 1 CTU2 100.00 1 CUL3 99.94 1 CUL4B 98.84 1 CUX1 99.97 1 CUX2 99.97 1 CWC27 98.42 1 CWF19L1 99.85 1 CYB5R3 99.65 1 CYFIP2 99.96 1 CYP27A1 100.00 1 CYP2U1 99.39 1 CYP7B1 99.87 1 D2HGDH 100.00 1 DAG1 100.00 1 DARS1 99.93 1 DARS2 99.91 1 DBT 99.96 1 DCAF17 99.97 1 DCC 99.94 1 DCHS1 100.00 1 DCPS 100.00 1 DCX 99.89 1 DDB1 99.94 1 DDC 100.00 1 DDHD2 99.87 1 DDOST 100.00 1 DDX11 100.00 1 DDX23 99.98 1 DDX3X 99.83 1 DDX59 99.68 1 DDX6 99.98 1 DEAF1 97.01 1 DEGS1 95.49 1 DENND5A 99.95 1 DEPDC5 99.98 1 DHCR24 100.00 1 DHCR7 100.00 1 DHDDS 99.96 1 DHFR 99.97 1 DHPS 93.34 1 DHTKD1 99.94 1 DHX16 99.99 1 DHX30 99.99 1 DHX37 99.99 1 DHX9 99.95 1 DIAPH1 99.87 1 DIP2B 99.96 1 DIS3L2 99.92 1 DKC1 99.48 1 DLD 99.99 1 DLG3 99.86 1 DLG4 100.00 1 DLL1 100.00 1 DMD 99.72 1 DMPK 100.00 1 DMXL2 99.60 1 DNA2 99.92 1 DNAJA1 99.91 1 DNAJC12 99.99 1 DNAJC19 99.94 1 DNAJC5 100.00 1 DNM1 97.45 1 DNM1L 99.92 1 DNMT3A 100.00 1 DNMT3B 99.97 1 DOCK3 99.93 1 DOCK6 100.00 1 DOCK7 99.93 1 DOCK8 99.97 1 DOHH 100.00 1 DOLK 100.00 1 DONSON 99.85 1 DOT1L 100.00 1 DPAGT1 99.98 1 DPF2 100.00 1 DPH1 100.00 1 DPH2 100.00 1 DPH5 99.94 1 DPM1 97.09 1 DPM3 100.00 1 DPP6 99.95 1 DPYD 99.95 1 DPYS 99.86 1 DPYSL5 100.00 1 DTYMK 85.19 1 DYM 99.93 1 DYNC1H1 99.96 1 DYNC1I2 99.99 1 DYRK1A 99.97 1 EARS2 99.98 1 EBF3 99.98 1 EBP 100.00 1 ECHS1 100.00 1 ECM1 100.00 1 EDEM3 99.83 1 EED 99.96 1 EEF1A2 99.97 1 EEF1B2 99.79 1 EEF2 100.00 1 EFTUD2 99.93 1 EHMT1 99.98 1 EIF2A 99.99 1 EIF2AK1 99.92 1 EIF2AK2 99.90 1 EIF2AK3 99.91 1 EIF2B1 99.95 1 EIF2B2 99.89 1 EIF2B3 99.90 1 EIF2B4 99.94 1 EIF2B5 99.94 1 EIF2S3 99.89 1 EIF3F 99.89 1 EIF4A2 99.95 1 EIF4A3 99.98 1 EIF5A 100.00 1 ELAC2 99.99 1 ELOVL4 99.87 1 ELP2 99.99 1 EMC1 99.94 1 EMC10 100.00 1 EML1 99.99 1 EMX2 99.99 1 ENG 100.00 1 ENTPD1 99.93 1 EP300 99.96 1 EPG5 99.95 1 EPM2A 98.38 1 EPRS1 99.97 1 ERBB4 99.95 1 ERCC1 100.00 1 ERCC2 100.00 1 ERCC3 99.97 1 ERCC5 99.95 1 ERCC6 99.95 1 ERCC6L2 99.96 1 ERCC8 99.98 1 ERLIN2 99.92 1 ESAM 100.00 1 ESCO2 99.71 1 ETFA 99.90 1 ETFB 99.97 1 ETFDH 99.90 1 ETHE1 100.00 1 EXOC3L2 99.31 1 EXOC7 100.00 1 EXOSC2 99.87 1 EXOSC3 99.98 1 EXOSC5 100.00 1 EXOSC9 99.97 1 EXT2 99.95 1 EXTL3 99.99 1 EZH2 99.94 1 FA2H 100.00 1 FAM111A 99.82 1 HYCC1 99.95 1 FAM149B1 99.91 1 FAM20C 99.99 1 FAM50A 100.00 1 FANCL 99.95 1 FAR1 99.97 1 FARS2 99.97 1 FASTKD2 99.97 1 FAT4 99.97 1 FBN1 99.94 1 FBRSL1 99.17 1 FBXL3 99.94 1 FBXL4 99.99 1 FBXO11 99.94 1 FBXO28 99.97 1 FBXO31 99.92 1 FBXW11 99.93 1 FBXW7 99.95 1 FCSK 100.00 1 FDFT1 99.93 1 FGD1 99.99 1 FGF12 99.93 1 FGF13 99.63 1 FGF14 99.93 1 FGFR1 100.00 1 FGFR2 99.91 1 FGFR3 100.00 1 FH 99.93 1 FIBP 100.00 1 FIG4 99.98 1 FITM2 99.96 1 FKRP 100.00 1 FKTN 99.95 1 FLNA 100.00 1 FLVCR1 99.95 1 FLVCR2 99.96 1 FMN2 99.97 1 FMR1 99.69 1 FOLR1 100.00 1 FOXG1 100.00 1 FOXP1 99.93 1 FOXP2 99.98 1 FOXP4 100.00 1 FOXRED1 100.00 1 FRA10AC1 99.91 1 FRAS1 99.96 1 FRMD5 99.99 1 FRMPD4 99.85 1 FRRS1L 99.90 1 FSD1L 99.91 1 FTCD 99.97 1 FTO 93.41 1 FTSJ1 99.97 1 FUCA1 99.91 1 FUT8 99.94 1 FZR1 100.00 1 GABBR1 100.00 1 GABBR2 100.00 1 GABRA1 99.96 1 GABRA2 99.96 1 GABRA3 99.52 1 GABRA5 99.97 1 GABRB1 99.97 1 GABRB2 99.91 1 GABRB3 99.95 1 GABRD 98.14 1 GABRG2 99.15 1 GAD1 99.95 1 GAD2 99.84 1 GALC 99.97 1 GALE 100.00 1 GALNT2 100.00 1 GALT 100.00 1 GAMT 100.00 1 GATAD2B 99.99 1 GATM 99.99 1 GBA1 100.00 1 GCDH 100.00 1 GCH1 99.96 1 GCSH 99.96 1 GDF11 99.93 1 GDI1 100.00 1 GEMIN5 99.96 1 GFAP 100.00 1 GFER 100.00 1 GFM1 99.92 1 GFM2 96.99 1 GIGYF1 100.00 1 GJB1 100.00 1 GJC2 99.80 1 GK 99.65 1 GLB1 99.97 1 GLDC 99.92 1 GLI2 99.99 1 GLI3 99.98 1 GLIS3 99.98 1 GLRA1 99.94 1 GLRA2 99.57 1 GLRB 99.98 1 GLS 99.94 1 GLUD1 100.00 1 GLUL 99.94 1 GLYCTK 100.00 1 GM2A 99.99 1 GMPPA 100.00 1 GMPPB 100.00 1 GNAI1 99.97 1 GNAO1 100.00 1 GNAS 100.00 1 GNB1 99.99 1 GNB2 100.00 1 GNB5 99.99 1 GNE 99.96 1 GNPAT 99.88 1 GNPTAB 99.93 1 GNPTG 99.64 1 GNS 99.93 1 GOLGA2 99.98 1 GOSR2 99.88 1 GOT2 99.94 1 GPAA1 100.00 1 GPC3 99.48 1 GPC4 99.81 1 GPHN 99.93 1 GPSM2 99.91 1 GPT2 99.35 1 GRIA1 99.81 1 GRIA2 99.92 1 GRIA3 98.63 1 GRIA4 99.94 1 GRID2 99.96 1 GRIK2 99.89 1 GRIN1 100.00 1 GRIN2A 99.90 1 GRIN2B 99.94 1 GRIN2D 100.00 1 GRIPAP1 99.98 1 GRM1 99.99 1 GRM7 99.97 1 GRN 100.00 1 GSS 99.97 1 GSX2 100.00 1 GTF2E2 97.39 1 GTF2H5 100.00 1 GTF3C3 99.91 1 GTPBP2 99.97 1 GTPBP3 100.00 1 GUSB 100.00 1 H1-4 100.00 1 H3-3A 99.98 1 H3-3B 100.00 1 H4C11 100.00 1 H4C3 100.00 1 H4C4 100.00 1 H4C5 100.00 1 H4C6 100.00 1 H4C9 100.00 1 HACE1 99.96 1 HADH 99.94 1 HADHA 99.95 1 HAX1 99.83 1 HCCS 99.74 1 HCFC1 100.00 1 HCN1 99.98 1 HCN2 91.06 1 HDAC4 100.00 1 HDAC6 99.97 1 HDAC8 99.73 1 HEATR5B 99.96 1 HECTD4 99.92 1 HECW2 99.98 1 HEPACAM 100.00 1 HERC1 99.96 1 HERC2 99.99 1 HESX1 99.90 1 HEXA 99.99 1 HEXB 99.97 1 HGSNAT 97.21 1 HIBCH 99.92 1 HID1 100.00 1 HIVEP2 99.98 1 HK1 96.86 1 HLCS 96.57 1 HMGB1 99.93 1 HMGCL 99.96 1 HNMT 99.98 1 HNRNPC 99.96 1 HNRNPH1 99.97 1 HNRNPH2 99.88 1 HNRNPK 99.98 1 HNRNPR 99.95 1 HNRNPU 99.92 1 HOXA1 100.00 1 HPD 100.00 1 HPDL 100.00 1 HPRT1 99.50 1 HRAS 100.00 1 HS2ST1 99.87 1 HSD17B10 99.99 1 HSD17B4 99.93 1 HSPA9 99.91 1 HSPD1 99.98 1 HTRA2 99.94 1 HUWE1 99.80 1 HYLS1 99.83 1 IARS1 99.86 1 IARS2 99.95 1 IBA57 99.50 1 ICE1 99.96 1 IDH2 99.96 1 IDS 99.91 1 IDUA 99.88 1 IER3IP1 100.00 1 IFIH1 99.94 1 IFT172 99.92 1 IFT27 100.00 1 IGBP1 99.92 1 IGF1 99.92 1 IGF1R 99.98 1 IGSF1 99.74 1 IKBKG 100.00 1 IL1RAPL1 99.81 1 IMPA1 99.97 1 INPP5E 100.00 1 INPP5K 100.00 1 INTS1 100.00 1 INTS11 100.00 1 INTS8 99.93 1 IQSEC1 96.46 1 IQSEC2 98.69 1 IQSEC3 100.00 1 IREB2 99.97 1 IRF2BPL 99.74 1 IRX5 99.97 1 ISCA1 100.00 1 ITFG2 99.99 1 ITGA7 100.00 1 ITPA 100.00 1 ITPR1 99.95 1 ITSN1 99.94 1 IVD 100.00 1 JAG1 99.97 1 JAM3 99.93 1 JARID2 99.98 1 JMJD1C 99.97 1 KANK1 99.99 1 KANSL1 99.97 1 KARS1 99.88 1 KAT5 100.00 1 KAT6A 99.97 1 KAT6B 99.94 1 KAT8 100.00 1 KATNB1 100.00 1 KCNA1 99.93 1 KCNA2 100.00 1 KCNA3 99.99 1 KCNA4 100.00 1 KCNA6 100.00 1 KCNB1 99.98 1 KCNC1 100.00 1 KCNC2 99.94 1 KCNC3 99.25 1 KCND2 99.99 1 KCND3 100.00 1 KCNH1 99.90 1 KCNH5 99.92 1 KCNJ10 100.00 1 KCNJ11 100.00 1 KCNJ6 99.98 1 KCNK4 100.00 1 KCNK9 100.00 1 KCNMA1 99.93 1 KCNN2 99.97 1 KCNN3 100.00 1 KCNQ2 100.00 1 KCNQ3 99.87 1 KCNQ5 99.90 1 KCNT1 100.00 1 KCNT2 99.95 1 KCTD3 100.00 1 KCTD7 100.00 1 KDM1A 99.93 1 KDM2B 99.98 1 KDM3B 99.92 1 KDM4B 100.00 1 KDM5A 99.94 1 KDM5B 97.65 1 KDM5C 99.02 1 KDM6A 99.67 1 KDM6B 100.00 1 KIAA0586 95.67 1 KIAA1109 99.95 1 KIDINS220 99.96 1 KIF11 99.96 1 KIF14 99.93 1 KIF1A 100.00 1 KIF21B 100.00 1 KIF26A 99.83 1 KIF2A 99.96 1 KIF4A 99.72 1 KIF5A 99.98 1 KIF5B 99.89 1 KIF5C 99.98 1 KIF7 99.99 1 KIFBP 99.95 1 KIRREL3 100.00 1 KLF7 100.00 1 KLHL15 99.70 1 KLHL20 99.95 1 KLHL7 99.96 1 KMT2A 99.80 1 KMT2B 99.51 1 KMT2C 99.95 1 KMT2D 100.00 1 KMT2E 99.93 1 KMT5B 99.96 1 KNL1 98.60 1 KPTN 100.00 1 KRAS 99.97 1 KRIT1 99.95 1 L1CAM 100.00 1 L2HGDH 99.89 1 LAGE3 100.00 1 LAMA1 99.96 1 LAMA2 99.96 1 LAMA5 99.91 1 LAMB1 99.96 1 LAMC3 99.86 1 LAMP2 99.59 1 LARGE1 100.00 1 LARP7 99.69 1 LARS1 99.87 1 LAS1L 99.96 1 LEO1 99.97 1 LETM1 99.48 1 LGI1 99.97 1 LGI3 100.00 1 LGI4 100.00 1 LHX2 100.00 1 LIAS 99.97 1 LIG3 99.98 1 LIG4 99.94 1 LINGO1 100.00 1 LINS1 99.96 1 LIPT2 100.00 1 LMAN2L 99.97 1 LMBRD2 99.95 1 LMNB1 99.95 1 LMNB2 99.38 1 LNPK 94.02 1 LONP1 100.00 1 LRP2 99.94 1 LRPPRC 99.95 1 LSS 100.00 1 LYRM7 99.74 1 LZTFL1 99.99 1 LZTR1 100.00 1 MAB21L1 100.00 1 MAB21L2 100.00 1 MACF1 99.94 1 MADD 99.93 1 MAF 95.78 1 MAG 100.00 1 MAGEL2 100.00 1 MAGT1 99.62 1 MAN1B1 99.98 1 MAN2B1 100.00 1 MAN2C1 100.00 1 MANBA 99.93 1 MAOA 98.54 1 MAP1B 99.91 1 MAP2K1 99.99 1 MAP2K2 100.00 1 MAPK1 99.81 1 MAPK8IP3 100.00 1 MAPKAPK5 99.91 1 MAPRE2 99.95 1 MARS1 99.93 1 MASP1 99.97 1 MAST1 100.00 1 MAST3 100.00 1 MAT1A 100.00 1 MBD5 99.94 1 MBOAT7 100.00 1 MBTPS2 99.67 1 MCCC1 99.95 1 MCCC2 99.95 1 MCM3AP 99.96 1 MCOLN1 100.00 1 MCPH1 94.66 1 MDH2 100.00 1 MECP2 99.93 1 MED11 100.00 1 MED12 99.90 1 MED12L 99.94 1 MED13 99.94 1 MED13L 99.94 1 MED17 99.89 1 MED23 99.97 1 MED25 100.00 1 MED27 99.92 1 MEF2C 99.93 1 MEGF8 99.96 1 MEIS2 99.93 1 METTL23 99.98 1 METTL5 99.95 1 MFF 99.87 1 MFSD2A 99.98 1 MFSD8 99.99 1 MGAT2 99.93 1 MGP 99.81 1 MICU1 99.98 1 MID1 99.90 1 MINPP1 99.96 1 MKKS 99.95 1 MKS1 99.93 1 MLC1 100.00 1 MLYCD 99.94 1 MMAA 99.95 1 MMAB 99.96 1 MMACHC 100.00 1 MMADHC 99.96 1 MMUT 99.94 1 MN1 100.00 1 MOCS1 100.00 1 MOCS2 99.94 1 MOGS 99.92 1 MORC2 99.96 1 MPDU1 100.00 1 MPDZ 99.95 1 MPLKIP 99.97 1 MRPS22 99.97 1 MRPS34 100.00 1 MSL3 99.78 1 MSMO1 99.95 1 MTFMT 99.85 1 MTHFR 100.00 1 MTHFS 100.00 1 MTO1 91.24 1 MTOR 99.95 1 MTR 99.94 1 MTRFR 99.76 1 MTRR 99.98 1 MTSS2 99.99 1 MVK 100.00 1 MYCBP2 99.94 1 MYCN 99.97 1 MYH10 99.96 1 MYH9 100.00 1 MYO5A 99.93 1 MYT1L 99.99 1 NAA10 100.00 1 NAA15 99.93 1 NAA20 99.99 1 NACC1 100.00 1 NAE1 99.93 1 NAGA 100.00 1 NAGLU 99.98 1 NALCN 99.94 1 NANS 100.00 1 NAPB 99.99 1 NARS1 99.79 1 NARS2 99.95 1 NAXD 100.00 1 NAXE 100.00 1 NBEA 99.93 1 NBN 99.98 1 NCAPD2 99.95 1 NCAPG2 99.96 1 NCDN 100.00 1 NCKAP1 99.98 1 NDE1 100.00 1 NDP 99.91 1 NDST1 100.00 1 NDUFA1 100.00 1 NDUFA11 98.04 1 NDUFA12 99.96 1 NDUFA2 100.00 1 NDUFA6 100.00 1 NDUFAF2 99.75 1 NDUFAF3 100.00 1 NDUFAF5 99.95 1 NDUFAF6 99.91 1 NDUFAF8 100.00 1 NDUFS1 99.96 1 NDUFS2 99.86 1 NDUFS3 99.98 1 NDUFS4 99.98 1 NDUFS7 100.00 1 NDUFS8 100.00 1 NDUFV1 100.00 1 NDUFV2 99.94 1 NECAP1 99.93 1 NEDD4L 99.94 1 NEMF 99.93 1 NEU1 100.00 1 NEUROD2 99.96 1 NEXMIF 99.74 1 NF1 99.92 1 NF2 99.95 1 NFASC 100.00 1 NFIA 99.88 1 NFIB 99.85 1 NFIX 99.97 1 NFU1 99.86 1 NGLY1 99.95 1 NHLRC1 100.00 1 NHLRC2 99.90 1 NHS 99.81 1 NIPA1 99.97 1 NIPBL 99.89 1 NKAP 99.62 1 NKX2-1 100.00 1 NLGN3 100.00 1 NLGN4X 99.93 1 NONO 99.89 1 NOVA2 99.39 1 NPC1 99.96 1 NPC2 99.98 1 NPHP1 99.89 1 NPRL2 100.00 1 NPRL3 100.00 1 NR1I3 99.99 1 NR2F1 99.58 1 NR2F2 99.87 1 NR4A2 99.94 1 NRAS 99.90 1 NRCAM 99.92 1 NRROS 100.00 1 NRXN1 99.94 1 NSD1 99.91 1 NSD2 99.97 1 NSDHL 99.89 1 NSMCE2 99.97 1 NSRP1 99.89 1 NSUN2 99.93 1 NSUN6 99.94 1 NT5C2 99.96 1 NTNG2 99.88 1 NTRK1 100.00 1 NTRK2 99.99 1 NUBPL 100.00 1 NUDT2 99.73 1 NUP107 99.82 1 NUP188 99.95 1 NUP214 99.95 1 NUP62 100.00 1 NUP85 100.00 1 NUS1 99.98 1 OCLN 99.97 1 OCRL 99.64 1 ODC1 99.95 1 OFD1 99.62 1 OGDH 99.97 1 OGDHL 100.00 1 OGT 99.73 1 OPHN1 98.20 1 ORC1 99.95 1 OSGEP 99.83 1 OTC 99.50 1 OTUD5 99.29 1 OTUD6B 99.96 1 OTX2 100.00 1 OXR1 99.96 1 P4HTM 99.28 1 PACS1 99.98 1 PACS2 99.97 1 PAFAH1B1 99.95 1 PAH 99.94 1 PAK1 99.91 1 PAK3 99.43 1 PALS1 99.94 1 PANK2 99.96 1 PANX1 99.97 1 PARN 99.98 1 PARS2 99.99 1 PAX1 99.70 1 PAX5 100.00 1 PAX6 99.92 1 PAX8 100.00 1 PBX1 99.95 1 PC 100.00 1 PCCA 99.97 1 PCCB 99.95 1 PCDH12 100.00 1 PCDH19 99.97 1 PCDHGC4 99.99 1 PCGF2 100.00 1 PCNT 99.99 1 PCYT2 99.95 1 PDCD10 99.99 1 PDE2A 100.00 1 PDE4D 99.94 1 PDGFRB 99.99 1 PDHA1 99.82 1 PDHB 100.00 1 PDHX 99.89 1 PDP1 99.92 1 PDSS1 93.87 1 PDSS2 99.82 1 PDZD8 99.96 1 PEPD 100.00 1 PET100 100.00 1 PEX1 99.98 1 PEX10 100.00 1 PEX11B 99.98 1 PEX12 99.96 1 PEX13 99.90 1 PEX14 99.98 1 PEX16 100.00 1 PEX19 99.92 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.96 1 PEX5 99.95 1 PEX6 100.00 1 PEX7 99.96 1 PGAP1 99.86 1 PGAP2 100.00 1 PGAP3 99.92 1 PGK1 99.83 1 PGM2L1 99.98 1 PGM3 99.95 1 PHACTR1 99.95 1 PHF21A 99.96 1 PHF6 97.98 1 PHF8 99.85 1 PHGDH 99.97 1 PHIP 99.96 1 PI4K2A 99.98 1 PI4KA 99.82 1 PIBF1 99.90 1 PIDD1 100.00 1 PIGA 99.55 1 PIGB 99.99 1 PIGC 99.95 1 PIGG 99.97 1 PIGH 100.00 1 PIGK 99.98 1 PIGL 99.99 1 PIGN 99.90 1 PIGO 99.99 1 PIGP 99.91 1 PIGQ 100.00 1 PIGS 99.99 1 PIGT 99.97 1 PIGU 99.87 1 PIGV 99.97 1 PIGW 99.99 1 PIGY 100.00 1 PIK3C2B 99.97 1 PIK3CA 99.93 1 PIK3R2 97.74 1 PIP5K1C 100.00 1 PLA2G6 100.00 1 PLAA 99.96 1 PLCB1 99.94 1 PLK4 99.97 1 PLP1 99.91 1 PLPBP 99.95 1 PLXNA1 100.00 1 PLXNA3 100.00 1 PMM2 99.92 1 PMPCA 99.99 1 PMPCB 99.98 1 PNKP 100.00 1 PNP 99.94 1 PNPLA6 100.00 1 PNPLA8 99.94 1 PNPO 99.99 1 PNPT1 99.95 1 POGZ 99.91 1 POLA1 99.50 1 POLG 99.99 1 POLR1C 97.49 1 POLR1D 99.89 1 POLR2A 99.99 1 POLR3A 99.91 1 POLR3B 99.94 1 POLRMT 100.00 1 POMGNT1 100.00 1 POMGNT2 100.00 1 POMK 99.97 1 POMT1 99.97 1 POMT2 99.92 1 PORCN 100.00 1 POU1F1 99.95 1 POU3F2 100.00 1 POU3F3 99.90 1 PPFIA3 100.00 1 PPFIBP1 99.94 1 PPIL1 100.00 1 PPM1D 99.98 1 PPOX 99.98 1 PPP1CB 99.98 1 PPP1R12A 99.96 1 PPP1R15B 99.97 1 PPP1R21 99.83 1 PPP2CA 99.96 1 PPP2R1A 100.00 1 PPP2R5D 99.98 1 PPP3CA 99.94 1 PPT1 99.98 1 PQBP1 100.00 1 PRDM13 100.00 1 PRICKLE1 99.94 1 PRICKLE2 99.99 1 PRKACA 99.99 1 PRKACB 99.99 1 PRKAR1A 99.98 1 PRKAR1B 100.00 1 PRKD1 99.94 1 PRMT7 99.98 1 PRODH 100.00 1 PRORP 99.96 1 PRPF8 99.99 1 PRPS1 99.87 1 PRR12 100.00 1 PRRT2 100.00 1 PRSS12 99.97 1 PRUNE1 99.95 1 PSAP 99.98 1 PSAT1 99.98 1 PSMC3 100.00 1 PSMD12 99.96 1 PSPH 99.85 1 PTCH1 99.98 1 PTCHD1 99.75 1 PTDSS1 99.97 1 PTEN 99.96 1 PTF1A 99.89 1 PTPA 99.98 1 PTPN11 99.88 1 PTPN12 99.91 1 PTPN23 100.00 1 PTPN4 99.91 1 PTRH2 99.94 1 PTRHD1 99.95 1 PTS 99.75 1 PUF60 100.00 1 PUM1 99.98 1 PURA 99.99 1 PUS1 99.97 1 PUS3 99.94 1 PUS7 99.90 1 PYCR1 100.00 1 PYCR2 100.00 1 QARS1 99.99 1 QDPR 99.90 1 QRICH1 99.99 1 RAB11A 99.97 1 RAB11B 100.00 1 RAB18 99.97 1 RAB23 99.95 1 RAB27A 99.48 1 RAB39B 99.97 1 RAB3GAP1 99.97 1 RAB3GAP2 99.94 1 RAB40AL 100.00 1 RAB5C 99.97 1 RABGAP1 99.94 1 RAC1 99.99 1 RAC3 99.47 1 RAD21 99.96 1 RAF1 99.95 1 RAI1 100.00 1 RALA 99.93 1 RALGAPA1 99.90 1 RALGAPB 99.95 1 RAP1GDS1 99.91 1 RARB 99.94 1 RARS1 99.64 1 RARS2 97.36 1 RBBP8 99.95 1 RBL2 99.95 1 RBM10 100.00 1 RBM28 99.97 1 RCBTB1 99.90 1 RECQL4 99.86 1 RELN 99.94 1 RERE 99.98 1 RFT1 99.89 1 RFX3 99.96 1 RFX4 99.90 1 RFX7 99.98 1 RHEB 99.87 1 RHOBTB2 100.00 1 RIMS2 99.94 1 RIN2 99.96 1 RIT1 99.92 1 RLIM 99.84 1 RMND1 99.94 1 RNASEH2A 100.00 1 RNASEH2B 99.89 1 RNASEH2C 100.00 1 RNASET2 99.99 1 RNF113A 99.98 1 RNF125 99.96 1 RNF13 99.86 1 RNPC3 99.93 1 RNU7-1 0.00 1 ROGDI 100.00 1 ROR2 99.98 1 RORA 99.98 1 RORB 99.92 1 RPGRIP1L 98.82 1 RPH3A 99.99 1 RPIA 99.97 1 RPL10 99.96 1 RPS6KA3 98.44 1 RRAGC 99.92 1 RRAS2 99.96 1 RRM2B 99.92 1 RSPRY1 99.95 1 RSRC1 99.88 1 RTEL1 100.00 1 RTN4IP1 99.90 1 RTTN 99.93 1 RUBCN 99.98 1 RUSC2 100.00 1 RXYLT1 99.94 1 SALL1 99.99 1 SAMD9 99.96 1 SAMHD1 99.99 1 SARS1 99.99 1 SASS6 99.86 1 SATB1 99.95 1 SATB2 99.94 1 SBDS 99.98 1 SC5D 99.95 1 SCAF4 99.97 1 SCAMP5 100.00 1 SCAPER 99.93 1 SCARB2 99.95 1 SCN1A 99.93 1 SCN1B 100.00 1 SCN2A 99.94 1 SCN3A 99.95 1 SCN8A 99.89 1 SCO1 99.95 1 SCO2 100.00 1 SCYL1 100.00 1 SDCCAG8 99.98 1 SDHA 99.98 1 SDHAF1 100.00 1 SEMA3E 99.95 1 SEMA6B 100.00 1 SEPSECS 99.90 1 SERAC1 99.94 1 SERPINI1 99.91 1 SET 98.41 1 SETBP1 99.98 1 SETD1A 100.00 1 SETD1B 99.90 1 SETD2 99.89 1 SETD5 99.87 1 SGPL1 99.88 1 SGSH 100.00 1 SGSM3 100.00 1 SHANK1 100.00 1 SHANK2 100.00 1 SHANK3 97.26 1 SHH 100.00 1 SHMT2 100.00 1 SHOC2 99.89 1 SHQ1 99.97 1 SHROOM4 99.95 1 SIAH1 99.88 1 SIK1 100.00 1 SIL1 99.99 1 SIN3A 99.93 1 SIN3B 99.43 1 SIX3 100.00 1 SKI 100.00 1 SLC12A2 99.90 1 SLC12A5 100.00 1 SLC12A6 99.86 1 SLC13A5 100.00 1 SLC16A2 99.92 1 SLC17A5 99.90 1 SLC18A2 99.94 1 SLC19A3 99.97 1 SLC1A1 99.92 1 SLC1A2 99.84 1 SLC1A4 99.98 1 SLC25A1 99.63 1 SLC25A12 99.98 1 SLC25A15 99.94 1 SLC25A22 100.00 1 SLC25A24 99.38 1 SLC25A42 100.00 1 SLC25A46 99.94 1 SLC2A1 100.00 1 SLC32A1 100.00 1 SLC33A1 99.90 1 SLC35A1 99.97 1 SLC35A2 100.00 1 SLC35A3 99.94 1 SLC35C1 100.00 1 SLC38A3 100.00 1 SLC39A14 93.58 1 SLC39A8 98.49 1 SLC45A1 100.00 1 SLC46A1 100.00 1 SLC4A4 99.91 1 SLC6A1 99.99 1 SLC6A17 100.00 1 SLC6A19 100.00 1 SLC6A3 100.00 1 SLC6A8 99.88 1 SLC6A9 100.00 1 SLC7A3 99.84 1 SLC7A5 100.00 1 SLC7A6OS 100.00 1 SLC7A7 99.95 1 SLC9A6 98.03 1 SLC9A7 99.38 1 SMAD4 99.94 1 SMAD6 100.00 1 SMARCA1 98.94 1 SMARCA2 99.92 1 SMARCA4 100.00 1 SMARCA5 99.85 1 SMARCB1 100.00 1 SMARCC2 99.95 1 SMARCD1 99.97 1 SMARCD2 97.99 1 SMARCE1 99.94 1 SMC1A 99.85 1 SMC3 99.92 1 SMG8 99.96 1 SMG9 99.99 1 SMO 99.99 1 SMOC1 99.97 1 SMPD1 100.00 1 SMPD4 100.00 1 SMS 99.62 1 SNAP25 99.83 1 SNAP29 100.00 1 SNAPC4 100.00 1 SNIP1 99.96 1 SNRPB 100.00 1 SNRPN 99.99 1 SNX14 99.93 1 SNX27 99.84 1 SOBP 99.36 1 SON 99.97 1 SOS1 99.89 1 SOS2 99.92 1 SOX10 100.00 1 SOX11 100.00 1 SOX2 99.98 1 SOX3 99.99 1 SOX4 99.75 1 SOX5 99.97 1 SOX6 99.94 1 SOX9 100.00 1 SPART 99.97 1 SPAST 100.00 1 AFG2A 99.96 1 SPATA5L1 99.96 1 SPECC1L 99.88 1 SPEN 99.97 1 SPG11 99.98 1 SPOP 99.84 1 SPR 100.00 1 SPRED1 99.91 1 SPRED2 99.94 1 SPTAN1 99.98 1 SPTBN1 99.97 1 SPTBN2 100.00 1 SPTBN4 99.99 1 SPTLC2 99.93 1 SQSTM1 100.00 1 SRCAP 99.99 1 SRD5A3 99.97 1 SREBF1 99.95 1 SRGAP3 99.98 1 SRPX2 99.94 1 SRRM2 99.97 1 SRSF1 99.96 1 SSR4 100.00 1 ST3GAL3 99.98 1 ST3GAL5 99.88 1 STAG1 99.93 1 STAG2 96.85 1 STAMBP 99.97 1 STEEP1 99.48 1 STIL 99.94 1 STRA6 100.00 1 STRADA 99.91 1 STT3A 99.93 1 STT3B 99.97 1 STX1A 100.00 1 STX1B 100.00 1 STXBP1 99.94 1 SUCLA2 99.95 1 SUCLG1 99.92 1 SUFU 99.99 1 SUMF1 99.99 1 SUOX 100.00 1 SUPT16H 99.98 1 SURF1 99.86 1 SUZ12 99.92 1 SVBP 100.00 1 SYN1 99.91 1 SYNCRIP 99.94 1 SYNE1 99.96 1 SYNGAP1 100.00 1 SYNJ1 99.90 1 SYP 100.00 1 SYT1 99.90 1 SYT14 95.80 1 SZT2 100.00 1 TAF1 99.70 1 TAF13 99.96 1 TAF2 99.95 1 TAF4 86.64 1 TAF6 100.00 1 TAF8 99.99 1 TAFAZZIN 99.92 1 TANC2 99.95 1 TANGO2 100.00 1 TAOK1 99.97 1 TARS2 99.94 1 TASP1 99.95 1 TAT 99.98 1 TBC1D20 99.95 1 TBC1D23 99.95 1 TBC1D24 100.00 1 TBC1D2B 99.77 1 TBC1D7 99.92 1 TBCD 99.99 1 TBCE 99.92 1 TBCK 99.91 1 TBL1XR1 99.99 1 TBR1 99.97 1 TBX1 98.28 1 TCEAL1 99.95 1 TCF20 100.00 1 TCF4 99.88 1 TCF7L2 100.00 1 TCN2 100.00 1 TCTN1 94.52 1 TCTN2 99.86 1 TCTN3 99.90 1 TDP2 99.88 1 TECPR2 99.97 1 TECR 100.00 1 TELO2 100.00 1 TENM3 99.89 1 TET3 99.98 1 TFAP2A 99.99 1 TFE3 99.97 1 TGFBR1 99.94 1 TGIF1 100.00 1 TH 100.00 1 THG1L 99.92 1 THOC2 99.50 1 THOC6 100.00 1 THRB 99.87 1 THUMPD1 99.90 1 TIAM1 99.98 1 TIMM50 100.00 1 TIMM8A 99.95 1 TINF2 99.93 1 TK2 100.00 1 TKFC 100.00 1 TKT 98.57 1 TLK2 99.81 1 TMCO1 99.91 1 TMEM106B 100.00 1 TMEM147 100.00 1 TMEM161B 93.83 1 TMEM165 99.96 1 TMEM216 100.00 1 TMEM218 99.87 1 TMEM222 100.00 1 TMEM231 99.97 1 TMEM237 99.91 1 TMEM240 100.00 1 TMEM63B 100.00 1 TMEM67 99.38 1 TMEM70 100.00 1 TMEM94 100.00 1 TMLHE 99.37 1 TMTC3 99.95 1 TMX2 99.95 1 TNIK 99.94 1 TNPO2 100.00 1 TNR 99.98 1 TNRC6B 99.96 1 TOE1 99.99 1 TOR1A 99.91 1 TP53RK 99.89 1 TPP1 100.00 1 TPP2 99.91 1 TRA2B 99.98 1 TRAF7 100.00 1 TRAIP 99.95 1 TRAK1 99.97 1 TRAPPC10 99.98 1 TRAPPC11 99.83 1 TRAPPC12 100.00 1 TRAPPC2L 100.00 1 TRAPPC4 99.96 1 TRAPPC6B 99.94 1 TRAPPC9 99.97 1 TREX1 100.00 1 TRIM32 100.00 1 TRIM8 100.00 1 TRIO 99.45 1 TRIP12 99.95 1 TRIT1 99.93 1 TRMT1 100.00 1 TRMT10A 99.96 1 TRPM3 99.96 1 TRPM6 99.96 1 TRRAP 99.98 1 TSC1 99.97 1 TSC2 100.00 1 TSEN15 99.98 1 TSEN2 86.91 1 TSEN34 100.00 1 TSEN54 99.62 1 TSFM 94.09 1 TSHB 99.98 1 TSPAN7 99.97 1 TSPOAP1 100.00 1 TTC19 99.93 1 SKIC3 99.98 1 TTC5 99.93 1 TTC8 99.98 1 TTI1 99.96 1 TTI2 99.99 1 TUBA1A 100.00 1 TUBA8 100.00 1 TUBB 100.00 1 TUBB2A 100.00 1 TUBB2B 100.00 1 TUBB3 100.00 1 TUBB4A 99.90 1 TUBG1 99.99 1 TUBGCP2 96.93 1 TUBGCP4 99.87 1 TUBGCP6 100.00 1 TUSC3 99.95 1 TWIST1 100.00 1 U2AF2 100.00 1 UBA5 99.99 1 UBAP2L 99.95 1 UBE2A 99.40 1 UBE3A 99.93 1 UBE3B 99.95 1 UBE3C 99.91 1 UBE4A 99.88 1 UBR1 99.94 1 UBR7 99.87 1 UBTF 99.99 1 UFC1 99.88 1 UFM1 100.00 1 UFSP2 99.93 1 UGDH 99.97 1 UGP2 99.92 1 UNC79 99.94 1 UNC80 99.94 1 UPB1 100.00 1 UPF3A 86.57 1 UPF3B 99.25 1 UROC1 100.00 1 USP18 100.00 1 USP27X 99.94 1 USP7 99.97 1 USP9X 99.46 1 VAC14 100.00 1 VAMP1 100.00 1 VAMP2 100.00 1 VARS1 100.00 1 VARS2 100.00 1 VCP 99.96 1 VLDLR 99.93 1 VPS11 99.98 1 VPS13B 99.26 1 VPS37A 99.94 1 VPS4A 100.00 1 VPS50 99.92 1 VPS51 100.00 1 VPS53 99.97 1 VRK1 99.92 1 VWA3B 99.96 1 WAC 99.93 1 WARS1 99.87 1 WARS2 99.98 1 WASF1 99.95 1 WASHC4 99.77 1 WBP11 99.95 1 WBP4 99.95 1 WDFY3 99.95 1 WDPCP 91.90 1 WDR11 99.96 1 WDR13 99.99 1 WDR19 99.90 1 WDR26 99.39 1 WDR37 99.98 1 WDR4 100.00 1 WDR45 100.00 1 WDR45B 99.98 1 WDR5 99.97 1 WDR62 99.99 1 WDR73 100.00 1 WDR81 100.00 1 WIPI2 100.00 1 WNK3 99.72 1 WWOX 99.99 1 XPA 99.96 1 XRCC4 99.96 1 XYLT1 99.03 1 YAP1 99.96 1 YARS1 99.93 1 YIF1B 92.47 1 YIPF5 99.99 1 YWHAE 99.95 1 YWHAG 100.00 1 YY1 99.99 1 ZBTB11 99.96 1 ZBTB16 100.00 1 ZBTB18 99.87 1 ZBTB20 99.99 1 ZBTB24 99.96 1 ZBTB7A 100.00 1 ZC3H14 99.91 1 ZC4H2 99.76 1 ZDHHC16 100.00 1 ZDHHC9 99.67 1 ZEB2 99.90 1 ZFHX3 100.00 1 ZFHX4 99.96 1 ZFYVE26 99.96 1 ZIC1 100.00 1 ZIC2 100.00 1 ZMIZ1 100.00 1 ZMYM2 99.96 1 ZMYM3 99.97 1 ZMYND11 99.97 1 ZMYND8 99.94 1 ZNF142 99.99 1 ZNF148 99.90 1 ZNF292 99.97 1 ZNF335 100.00 1 ZNF407 99.97 1 ZNF41 99.53 1 ZNF462 99.98 1 ZNF526 100.00 1 ZNF699 99.93 1 ZNF711 99.60 1 ZNHIT3 82.47 1 ZSWIM6 97.69 1 -
Malformations of cortical development (235 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ADGRG1 100.00 0 No comment AGBL2 96.33 0 No comment AHI1 100.00 0 No comment AKT1 100.00 0 No comment AKT3 100.00 0 No comment AP1S2 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment ARFGEF2 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARX 78.98 0 No comment ASNS 100.00 0 No comment ASPM 100.00 0 No comment ASXL1 99.91 0 No comment ATP6V0A2 100.00 0 No comment ANTXR1 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GAT1 100.00 0 No comment BICD2 100.00 0 No comment C2CD3 100.00 0 No comment CACNA1E 100.00 0 No comment CASK 100.00 0 No comment CCND2 100.00 0 No comment CDK5 100.00 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDON 100.00 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 CEP55 100.00 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CIT 100.00 0 No comment CKAP2L 100.00 0 No comment CNOT1 100.00 0 No comment CNTNAP2 99.85 0 No comment COL18A1 97.80 0 No comment COL3A1 100.00 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CRADD 100.00 0 No comment CRPPA 95.75 0 No comment CSPP1 100.00 0 No comment CUL4B 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DCHS1 99.64 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDX3X 100.00 0 No comment DEPDC5 99.62 0 No comment DHCR7 100.00 0 No comment DISP1 100.00 0 No comment DKC1 100.00 0 No comment DOCK6 99.12 0 No comment DYNC1H1 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EMG1 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment ERCC1 100.00 0 No comment ERCC2 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERMARD 100.00 0 No comment EZH2 100.00 0 No comment FAT4 100.00 0 No comment FGF8 94.82 0 No comment FH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FOXC1 62.57 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FUBP1 100.00 0 No comment GAS1 62.99 0 No comment GLI2 95.11 0 No comment GMPPB 100.00 0 No comment GNAQ 100.00 0 No comment GPC3 100.00 0 No comment GPSM2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2B 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HNRNPU 99.54 0 No comment HSD17B4 100.00 0 No comment HYLS1 100.00 0 No comment IER3IP1 99.93 0 No comment INTS8 100.00 0 No comment JAM3 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNB1 100.00 0 No comment KDM5C 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF21B 100.00 0 No comment KIF2A 98.88 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KNL1 98.62 0 No comment L1CAM 100.00 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 LARGE1 100.00 0 No comment MACF1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP1B 100.00 0 No comment MAPK8IP3 99.25 0 No comment MCPH1 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD2A 100.00 0 No comment MID1 100.00 0 No comment MPDZ 100.00 0 No comment MTOR 100.00 0 No comment MYCN 86.70 0 No comment MYH10 100.00 0 No comment NBN 100.00 0 No comment NDE1 100.00 0 No comment NEDD4L 100.00 0 No comment NFIB 100.00 0 No comment NHEJ1 100.00 0 No comment NIPBL 99.98 0 No comment NODAL 99.99 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NR2F1 92.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment OCLN 100.00 0 No comment OFD1 99.88 0 No comment PAFAH1B1 100.00 0 No comment PAX6 100.00 0 No comment PCNT 100.00 0 No comment PEX1 100.00 0 No comment PI4KA 99.44 0 No comment PIGA 100.00 0 No comment PIK3CA 100.00 0 No comment PIK3R2 89.19 0 No comment PITX2 100.00 0 No comment PLK4 100.00 0 No comment PNKP 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PRRX1 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PYCR2 100.00 0 No comment QARS1 100.00 0 No comment RAB18 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RELN 99.96 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 RNU4ATAC 100.00 0 No comment RTTN 100.00 0 No comment RXYLT1 99.84 0 No comment SAMHD1 100.00 0 No comment SCN3A 100.00 0 No comment SETD5 100.00 0 No comment SF3B4 100.00 0 No comment SHH 92.83 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment SLC25A19 100.00 0 No comment SLC35A2 100.00 0 No comment SLC9A6 99.96 0 No comment SMPD4 99.97 0 No comment SNAP29 100.00 0 No comment SOX9 97.88 0 No comment AFG2A 100.00 0 No comment SRD5A3 99.42 0 No comment SRPX2 100.00 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TGIF1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM67 100.00 0 No comment TMX2 100.00 0 No comment TREX1 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB 99.87 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUBGCP4 99.99 0 No comment TUBGCP6 100.00 0 No comment UBE3A 100.00 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment WDR62 100.00 0 No comment WDR73 100.00 0 No comment YWHAE 98.69 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment ZSWIM6 88.87 0 No comment -
Skeletal dysplasia (394 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ABL1 100.00 0 No comment ACAN 98.89 0 No comment ACP4 100.00 0 No comment ACP5 100.00 0 No comment ACVR1 100.00 0 No comment ADAMTS10 99.88 0 No comment ADAMTS17 89.95 0 No comment ADAMTSL2 100.00 0 No comment AFF4 100.00 0 No comment AGA 100.00 0 No comment AGPS 100.00 0 No comment AHDC1 100.00 0 No comment AKT1 100.00 0 No comment ALPL 100.00 0 No comment ALX1 100.00 0 No comment ALX3 91.36 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment ANKH 100.00 0 No comment ANO5 100.00 0 No comment ANTXR2 100.00 0 No comment APC 100.00 0 No comment ARCN1 100.00 0 No comment ARHGAP31 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment SLURP1 85.73 0 No comment ARSL 100.00 0 No comment ASCC1 91.27 0 No comment ASXL2 100.00 0 No comment ATP6V0A2 100.00 0 No comment B3GALT6 56.12 0 No comment B3GAT3 95.56 0 No comment B4GALT7 93.23 0 No comment BGN 100.00 0 No comment BHLHA9 38.48 0 No comment BMP1 99.86 0 No comment BMP2 100.00 0 No comment BMPER 100.00 0 No comment BMPR1B 100.00 0 No comment BRIP1 100.00 0 No comment C1R 100.00 0 No comment C1S 100.00 0 No comment C2CD3 100.00 0 No comment CA2 100.00 0 No comment CANT1 100.00 0 No comment CASR 100.00 0 No comment CC2D2A 98.16 0 No comment CCDC8 100.00 0 No comment CCN6 100.00 0 No comment CCNQ 84.41 0 No comment CD96 100.00 0 No comment CDC45 100.00 0 No comment CDC6 100.00 0 No comment CDH3 100.00 0 No comment CDKN1C 62.25 0 No comment CDT1 87.95 0 No comment CEP120 100.00 0 No comment CEP290 99.99 0 No comment CHD7 100.00 0 No comment CHST14 98.57 0 No comment CHST3 100.00 0 No comment CHSY1 91.67 0 No comment CKAP2L 100.00 0 No comment CLCN5 100.00 0 No comment CLCN7 94.99 0 No comment COG1 99.24 0 No comment COL10A1 100.00 0 No comment COL11A1 100.00 0 No comment COL11A2 99.14 0 No comment COL1A1 100.00 0 No comment COL1A2 99.93 0 No comment COL2A1 100.00 0 No comment COL9A1 100.00 0 No comment COL9A2 100.00 0 No comment COL9A3 96.41 0 No comment COMP 99.90 0 No comment CPLANE1 100.00 0 No comment CREB3L1 100.00 0 No comment CREBBP 100.00 0 No comment CRTAP 89.72 0 No comment CSPP1 100.00 0 No comment CTSA 100.00 0 No comment CTSK 100.00 0 No comment CUL7 99.99 0 No comment CYP26B1 100.00 0 No comment DDR2 100.00 0 No comment RIGI 100.00 0 No comment DDX59 100.00 0 No comment DHCR24 99.96 0 No comment DHODH 100.00 0 No comment DLL3 78.42 0 No comment DLX3 100.00 0 No comment DLX5 100.00 0 No comment DLX6 99.69 0 No comment DMP1 100.00 0 No comment DOCK6 99.12 0 No comment DVL1 100.00 0 No comment DVL3 100.00 0 No comment DYM 100.00 0 No comment DYNC2H1 100.00 0 No comment DYNC2LI1 100.00 0 No comment GLB1 100.00 0 No comment EDNRA 100.00 0 No comment EFNA4 100.00 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EIF2AK3 95.52 0 No comment EIF4A3 100.00 0 No comment ELMO2 100.00 0 No comment ENPP1 96.48 0 No comment EOGT 100.00 0 No comment EP300 100.00 0 No comment ERCC4 100.00 0 No comment ERF 100.00 0 No comment ESCO2 100.00 0 No comment EVC 94.45 0 No comment EVC2 99.55 0 No comment EXT1 100.00 0 No comment EXT2 100.00 0 No comment EZH2 100.00 0 No comment FAM111A 100.00 0 No comment FAM20C 92.71 0 No comment FANCA 99.70 0 No comment FANCB 100.00 0 No comment FANCC 100.00 0 No comment FANCD2 100.00 0 No comment FANCE 91.17 0 No comment FANCF 100.00 0 No comment FANCG 100.00 0 No comment FANCI 100.00 0 No comment FANCL 100.00 0 No comment FBLN1 95.59 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXW4 92.44 0 No comment FERMT3 100.00 0 No comment FGF10 100.00 0 No comment FGF16 100.00 0 No comment FGF23 100.00 0 No comment FGF3 80.02 0 No comment FGF4 70.06 0 No comment FGF8 94.82 0 No comment FGF9 100.00 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FIG4 100.00 0 No comment FKBP10 100.00 0 No comment FLNA 100.00 0 No comment FLNB 100.00 0 No comment FMN1 100.00 0 No comment FN1 100.00 0 No comment FREM1 100.00 0 No comment FUCA1 100.00 0 No comment FZD2 98.72 0 No comment GALNS 96.18 0 No comment GALNT3 100.00 0 No comment GDF3 100.00 0 No comment GDF5 100.00 0 No comment GDF6 93.56 0 No comment GJA1 100.00 0 No comment GLI3 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 GNS 100.00 0 No comment GORAB 100.00 0 No comment GPC3 100.00 0 No comment GPC6 100.00 0 No comment GPR68 100.00 0 No comment GPX4 87.15 0 No comment GREM1 100.00 0 No comment GUSB 100.00 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HES7 99.67 0 No comment HOXA11 99.40 0 No comment HOXA13 73.35 0 No comment HOXD13 80.52 0 No comment HPGD 99.99 0 No comment HSPG2 99.43 0 No comment HUWE1 100.00 0 No comment CILK1 100.00 0 No comment IDH1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IFITM5 100.00 0 No comment IFT122 100.00 0 No comment IFT140 100.00 0 No comment IFT172 100.00 0 No comment IFT43 100.00 0 No comment IFT80 100.00 0 No comment IGF1R 100.00 0 No comment IHH 99.88 0 No comment IKBKG 99.74 0 No comment IL11RA 100.00 0 No comment IL1RN 100.00 0 No comment BPNT2 98.65 0 No comment INPPL1 96.74 0 No comment JAG1 99.66 0 No comment KAT6B 100.00 0 No comment KIF22 100.00 0 No comment KIF7 96.94 0 No comment KRAS 100.00 0 No comment LBR 100.00 0 No comment LEMD3 100.00 0 No comment LFNG 82.55 0 No comment LIFR 100.00 0 No comment LMBR1 100.00 0 No comment LMNA 99.93 0 No comment LMX1B 99.99 0 No comment LONP1 99.83 0 No comment LPIN2 100.00 0 No comment LRIT3 100.00 0 No comment CORIN 98.90 0 No comment LRP5 97.87 0 No comment LTBP2 100.00 0 No comment LTBP3 96.02 0 No comment MAB21L2 100.00 0 No comment MAFB 99.89 0 No comment MAN2B1 100.00 0 No comment MAN2C1 100.00 0 No comment MAP3K7 100.00 0 No comment MATN3 86.25 0 No comment MEGF8 99.99 0 No comment MEOX1 100.00 0 No comment MESP2 100.00 0 No comment MGP 100.00 0 No comment MITF 100.00 0 No comment MKS1 100.00 0 No comment MMP13 100.00 0 No comment MMP2 100.00 0 No comment MMP9 100.00 0 No comment MNX1 71.50 0 No comment MSX2 100.00 0 No comment MYCN 86.70 0 No comment MYT1 100.00 0 No comment NAGLU 87.38 0 No comment NEK1 100.00 0 No comment NEU1 100.00 0 No comment NF1 99.95 0 No comment NFIX 97.15 0 No comment NIPBL 99.98 0 No comment NKX3-2 96.89 0 No comment NLRP3 100.00 0 No comment NOG 100.00 0 No comment NOTCH2 99.76 0 No comment NPRL2 100.00 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment OBSL1 98.31 0 No comment OFD1 99.88 0 No comment SLC25A15 100.00 0 No comment ORC4 100.00 0 No comment ORC6 100.00 0 No comment OSTM1 99.55 0 No comment P3H1 99.77 0 No comment P4HB 99.90 0 No comment PALB2 100.00 0 No comment PAM16 96.78 0 No comment PANK2 98.60 0 No comment PAPSS2 100.00 0 No comment PCNT 100.00 0 No comment PCYT1A 100.00 0 No comment PDE3A 100.00 0 No comment PDE4D 98.77 0 No comment PEX7 91.13 0 No comment PGM3 99.99 0 No comment PHEX 100.00 0 No comment PIGV 100.00 0 No comment PIK3CA 100.00 0 No comment PITX1 98.27 0 No comment PLEKHM1 100.00 0 No comment PLOD2 100.00 0 No comment PLS3 100.00 0 No comment POLR1A 100.00 0 No comment POLR1C 100.00 0 No comment POLR1D 100.00 0 No comment BVES 100.00 0 No comment PORCN 100.00 0 No comment PPIB 100.00 0 No comment PRKAR1A 100.00 0 No comment PROK2 98.51 0 No comment PTDSS1 100.00 0 No comment PTH1R 99.01 0 No comment PTHLH 100.00 0 No comment PTPN11 98.80 0 No comment PYCR1 100.00 0 No comment RAB23 100.00 0 No comment RAB33B 100.00 0 No comment RAD21 100.00 0 No comment RAD51C 100.00 0 No comment RASGRP2 100.00 0 No comment RBM8A 100.00 0 No comment RBPJ 100.00 0 No comment RECQL4 96.37 0 No comment RMRP 100.00 0 No comment RNU4ATAC 100.00 0 No comment ROR2 98.67 0 No comment RPGRIP1L 96.45 0 No comment RSPO2 100.00 0 No comment RSPRY1 100.00 0 No comment RUNX2 98.51 0 No comment SALL1 100.00 0 No comment SALL4 100.00 0 No comment SBDS 100.00 0 No comment SEC24D 100.00 0 No comment SERPINF1 100.00 0 No comment SERPINH1 100.00 0 No comment SETD2 100.00 0 No comment SF3B4 100.00 0 No comment SH3BP2 91.63 0 No comment SH3PXD2B 99.68 0 No comment SHOX 90.47 0 No comment HHAT 90.28 0 No comment SLC17A5 100.00 0 No comment SLC26A2 99.96 0 No comment SLC29A3 98.83 0 No comment SLC34A3 100.00 0 No comment SLC35D1 99.99 0 No comment SLC39A13 100.00 0 No comment SLCO5A1 100.00 0 No comment SLX4 100.00 0 No comment SMAD3 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCAL1 100.00 0 No comment SMARCB1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMO 94.17 0 No comment SNRPB 100.00 0 No comment SNX10 100.00 0 No comment SOST 99.39 0 No comment SOX6 100.00 0 No comment SOX9 97.88 0 No comment SP7 100.00 0 No comment STAT3 100.00 0 No comment SULF1 100.00 0 No comment SUMF1 100.00 0 No comment TBCE 100.00 0 No comment TBX15 100.00 0 No comment TBX3 99.88 0 No comment TBX4 94.32 0 No comment TBX5 100.00 0 No comment TBX6 100.00 0 No comment TBXAS1 100.00 0 No comment TCF12 100.00 0 No comment TCIRG1 100.00 0 No comment TCOF1 99.99 0 No comment TCTN3 100.00 0 No comment TGDS 100.00 0 No comment TGFB1 99.97 0 No comment TGFB2 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment THPO 100.00 0 No comment TMCO1 100.00 0 No comment TMEM216 100.00 0 No comment TMEM38B 100.00 0 No comment TMEM67 100.00 0 No comment TNFRSF11B 100.00 0 No comment TP63 100.00 0 No comment TRAPPC2 95.31 0 No comment TREM2 100.00 0 No comment TRIP11 100.00 0 No comment TRIP4 100.00 0 No comment TRPS1 100.00 0 No comment TRPV4 100.00 0 No comment TTC21B 100.00 0 No comment TWIST1 70.93 0 No comment TYROBP 100.00 0 No comment UBE2T 100.00 0 No comment WDR19 100.00 0 No comment DYNC2I2 93.01 0 No comment WDR35 100.00 0 No comment WNT1 98.70 0 No comment WNT10B 98.99 0 No comment WNT3 100.00 0 No comment WNT5A 99.97 0 No comment WNT6 96.35 0 No comment WNT7A 100.00 0 No comment XYLT1 88.83 0 No comment XYLT2 98.70 0 No comment ZEB2 100.00 0 No comment ZIC1 100.00 0 No comment ZMPSTE24 100.00 0 No comment ZSWIM6 88.87 0 No comment -
Skeletal dysplasia - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 99.92 1 ABL1 100.00 1 ACAN 91.51 1 ACP5 100.00 1 ACVR1 99.94 1 ADAMTS10 99.99 1 ADAMTS17 99.99 1 ADAMTSL2 99.99 1 AFF4 99.94 1 AGA 99.92 1 AGPS 98.83 1 AHDC1 100.00 1 AKT1 100.00 1 ALG12 100.00 1 ALG3 99.96 1 ALG9 99.73 1 ALPL 99.88 1 ALX1 97.99 1 ALX3 99.74 1 ALX4 100.00 1 AMER1 100.00 1 ANAPC1 75.83 1 ANKH 99.95 1 ANKRD11 99.85 1 ANO5 99.85 1 ANTXR2 99.67 1 ARHGAP31 100.00 1 ARID1A 99.83 1 ARID1B 99.69 1 SLURP1 99.99 1 ARSL 99.93 1 ASXL1 100.00 1 ASXL2 99.82 1 ATP6V0A2 99.92 1 B3GALT6 100.00 1 B3GAT3 87.74 1 B3GLCT 99.90 1 B4GALT7 99.99 1 B9D1 99.80 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BHLHA9 100.00 1 BMP1 99.94 1 BMP2 99.79 1 BMPER 99.94 1 BMPR1B 99.61 1 BPNT2 100.00 1 C2CD3 99.88 1 CA2 99.62 1 CANT1 100.00 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC134 100.00 1 CCDC8 100.00 1 CCN6 99.89 1 CCNQ 99.98 1 CD96 99.91 1 CDC45 99.77 1 CDC6 99.85 1 CDH3 99.98 1 CDKN1C 100.00 1 CDT1 100.00 1 CEP120 99.90 1 CEP290 98.10 1 CFAP410 100.00 1 CHD7 99.99 1 CHST14 100.00 1 CHST3 100.00 1 CHSY1 99.99 1 CILK1 99.69 1 CKAP2L 99.54 1 CLCN5 99.67 1 CLCN7 99.99 1 COG1 100.00 1 COG4 99.96 1 COL10A1 100.00 1 COL11A1 90.72 1 COL11A2 99.99 1 COL1A1 99.90 1 COL1A2 99.34 1 COL2A1 99.87 1 COL9A1 99.91 1 COL9A2 98.76 1 COL9A3 99.99 1 COLEC11 100.00 1 COMP 100.00 1 CPLANE1 99.81 1 CREB3L1 99.88 1 CREBBP 99.97 1 CRTAP 99.98 1 CSF1R 99.92 1 CSGALNACT1 100.00 1 CSPP1 98.31 1 CTSA 99.98 1 CTSC 99.97 1 CTSK 99.31 1 CUL7 100.00 1 CYP27B1 99.98 1 CYP2R1 99.96 1 DCC 99.96 1 DDR2 99.58 1 RIGI 99.84 1 DDX59 99.67 1 DHCR24 99.93 1 DHCR7 99.97 1 DHODH 99.99 1 DIP2C 100.00 1 DLL3 100.00 1 DLL4 100.00 1 DLX3 99.98 1 DLX5 99.98 1 DLX6 99.82 1 DMP1 99.99 1 DNMT3A 100.00 1 DOCK6 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DSPP 99.99 1 DVL1 100.00 1 DVL3 99.99 1 DYM 99.96 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DYNC2I2 99.98 1 DYNC2LI1 99.94 1 DYNLT2B 100.00 1 GLB1 100.00 1 EDNRA 99.97 1 EFNA4 99.92 1 EFNB1 99.95 1 EFTUD2 99.93 1 EIF2AK3 97.43 1 EIF4A3 99.99 1 ENPP1 99.88 1 EOGT 99.09 1 EP300 99.97 1 ERCC4 99.92 1 ERF 99.98 1 ESCO2 99.92 1 EVC 99.95 1 EVC2 99.97 1 EXT1 99.94 1 EXT2 99.98 1 EXTL3 99.99 1 EZH2 99.89 1 FAM111A 100.00 1 FAM20C 100.00 1 FBLN1 98.69 1 FBN1 99.85 1 FBN2 99.90 1 FBXW4 99.31 1 FERMT3 99.99 1 FGF10 99.95 1 FGF16 99.60 1 FGF23 100.00 1 FGF3 99.97 1 FGF4 100.00 1 FGF8 100.00 1 FGF9 100.00 1 FGFR1 100.00 1 FGFR2 99.99 1 FGFR3 100.00 1 FIG4 99.83 1 FKBP10 99.98 1 FLNA 99.99 1 FLNB 99.98 1 FMN1 99.98 1 FREM1 99.98 1 FUCA1 98.72 1 FZD2 99.98 1 GALNS 99.98 1 GALNT3 99.52 1 GDF3 100.00 1 GDF5 100.00 1 GDF6 100.00 1 GFER 100.00 1 GJA1 100.00 1 GLI3 100.00 1 GNAS 100.00 1 GNPAT 99.78 1 GNPNAT1 99.99 1 GNPTAB 99.76 1 GNPTG 100.00 1 GNS 99.59 1 GORAB 99.59 1 GPC6 99.98 1 GPX4 100.00 1 GREM1 100.00 1 GUSB 95.07 1 GZF1 100.00 1 HDAC4 99.98 1 HDAC8 99.74 1 HES7 100.00 1 HGSNAT 99.93 1 HNRNPK 99.93 1 HOXA11 99.99 1 HOXA13 99.94 1 HOXD13 99.98 1 HPGD 99.98 1 HS2ST1 95.79 1 HSPG2 99.87 1 IDH1 99.91 1 IDH2 100.00 1 IDS 99.82 1 IDUA 99.99 1 IFIH1 99.84 1 IFITM5 100.00 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT43 99.97 1 IFT52 99.82 1 IFT80 99.69 1 IFT81 94.64 1 IHH 100.00 1 IKBKG 57.34 1 IL11RA 99.98 1 IL1RN 99.64 1 INPPL1 99.97 1 KAT6B 99.79 1 KDELR2 99.98 1 KIAA0753 100.00 1 KIAA1217 99.99 1 KIF22 99.89 1 KIF7 100.00 1 KMT2D 99.98 1 LBR 99.66 1 LEMD3 99.07 1 LFNG 100.00 1 LIFR 99.69 1 LMBR1 99.88 1 LMNA 99.96 1 LMX1B 100.00 1 LONP1 99.99 1 LPIN2 100.00 1 CORIN 99.89 1 LRP5 99.95 1 LTBP2 99.97 1 MAFB 100.00 1 MAN2B1 99.99 1 MAN2C1 99.96 1 MAP3K7 99.33 1 MASP1 99.99 1 MATN3 99.97 1 MBTPS2 99.81 1 MEGF8 99.90 1 MEOX1 99.99 1 MESP2 99.99 1 MGP 99.95 1 MIA2 99.72 1 MIA3 99.84 1 MKKS 100.00 1 MKS1 99.92 1 MMP13 99.96 1 MMP2 99.96 1 MMP9 100.00 1 MNX1 99.83 1 MPDU1 99.97 1 MSX2 100.00 1 MTX2 99.20 1 MYCN 100.00 1 MYL11 99.85 1 NAGLU 100.00 1 NANS 100.00 1 NBAS 99.86 1 NEK1 99.83 1 NEU1 99.98 1 NF1 99.88 1 NFIX 99.99 1 NIPBL 99.34 1 NKX3-2 99.99 1 NLRP3 100.00 1 NOG 100.00 1 NOTCH1 99.98 1 NOTCH2 99.03 1 NPPC 100.00 1 NPRL2 99.99 1 NSD1 99.98 1 NSDHL 99.87 1 NXN 99.92 1 OBSL1 100.00 1 OFD1 99.68 1 SLC25A15 99.70 1 ORC4 99.70 1 ORC6 99.82 1 OSTM1 99.56 1 P3H1 99.89 1 P4HB 99.99 1 PAM16 100.00 1 PAN2 99.95 1 PAPSS2 99.91 1 PAX3 100.00 1 PCNT 99.97 1 PCYT1A 100.00 1 PDE3A 99.97 1 PDE4D 99.89 1 PEX5 99.89 1 PEX7 99.72 1 PGM3 99.94 1 PHEX 99.83 1 PHGDH 99.79 1 PIGT 99.95 1 PIGV 100.00 1 PIK3C2A 99.92 1 PIK3CA 99.74 1 PISD 100.00 1 PITX1 100.00 1 PLEKHM1 99.77 1 PLOD2 99.66 1 PLS3 99.75 1 POC1A 99.98 1 POLR1A 99.93 1 POLR1C 100.00 1 POLR1D 100.00 1 BVES 99.94 1 PORCN 99.98 1 PPIB 100.00 1 PRKAR1A 100.00 1 PRKG2 99.75 1 PRMT7 99.95 1 PSAT1 99.98 1 PSPH 99.09 1 PTDSS1 99.95 1 PTH1R 99.93 1 PTHLH 99.89 1 PTPN11 99.98 1 PUF60 100.00 1 PYCR1 99.99 1 RAB23 99.97 1 RAB33B 100.00 1 RAD21 99.91 1 RASGRP2 100.00 1 RBM8A 99.37 1 RBPJ 99.96 1 RECQL4 100.00 1 RFT1 99.79 1 RIN1 100.00 1 RNU4ATAC 99.95 1 ROR2 99.99 1 RPGRIP1L 96.35 1 RPL13 99.96 1 RUNX2 100.00 1 SALL1 100.00 1 SALL4 100.00 1 SBDS 99.93 1 SCARF2 99.94 1 SCUBE3 99.96 1 SEC24D 99.94 1 SERPINF1 100.00 1 SERPINH1 100.00 1 SETD2 99.91 1 SF3B4 99.65 1 SFRP4 99.99 1 SGSH 100.00 1 SH3BP2 100.00 1 SH3PXD2B 100.00 1 SHH 100.00 1 SHOX 92.70 1 HHAT 99.98 1 SLC10A7 99.95 1 SLC17A5 99.71 1 SLC26A2 100.00 1 SLC29A3 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC35C1 100.00 1 SLC35D1 87.50 1 SLC39A13 99.98 1 SLCO2A1 99.99 1 SLCO5A1 99.98 1 SMAD3 99.99 1 SMAD4 99.97 1 SMARCAL1 99.97 1 SMC1A 99.98 1 SMC3 99.91 1 SMO 99.99 1 SMOC1 100.00 1 SNRPB 99.96 1 SNX10 99.96 1 SOST 100.00 1 SOX9 100.00 1 SP7 100.00 1 SPARC 99.94 1 SUCO 98.05 1 SULF1 99.99 1 SUMF1 99.95 1 TALDO1 100.00 1 TAPT1 99.64 1 TBCE 99.91 1 TBX15 99.81 1 TBX3 100.00 1 TBX4 99.96 1 TBX5 99.98 1 TBX6 99.99 1 TBXAS1 100.00 1 TCF12 99.97 1 TCIRG1 99.99 1 TCOF1 99.99 1 TCTN2 99.99 1 TCTN3 99.92 1 TENT5A 99.97 1 TERT 100.00 1 TGFB1 100.00 1 TGFB2 99.87 1 TGFBR1 99.94 1 TGFBR2 99.98 1 THPO 100.00 1 TMEM165 99.97 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM38B 99.95 1 TMEM67 99.69 1 TNFRSF11A 100.00 1 TNFRSF11B 100.00 1 TNFSF11 99.89 1 TONSL 100.00 1 TP63 99.97 1 TRAPPC2 99.41 1 TREM2 100.00 1 TRIP11 99.90 1 TRPS1 100.00 1 TRPV4 100.00 1 TRPV6 99.99 1 TTC21B 99.50 1 TTC8 99.67 1 TWIST1 100.00 1 TYROBP 99.95 1 VDR 99.86 1 VPS35L 99.07 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WNT1 99.97 1 WNT10B 99.97 1 WNT3 99.99 1 WNT3A 100.00 1 WNT5A 100.00 1 WNT7A 99.99 1 XRCC4 99.89 1 XYLT1 99.98 1 XYLT2 99.97 1 ZMPSTE24 98.70 1 ZSWIM6 98.94 1