- Analytes
- GPR143
GPR143
Name: |
G protein-coupled receptor 143
|
Symbol: |
GPR143
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Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
ocular albinism 1
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XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
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- Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
- Ataxia Spasticity (gene panel)
- Dermatogenetic panel, severe, rare and hereditary genodermatoses (gene panel - 394 genes)
- Hereditary spastic paraplegia (gene panel - 249 genes)
- Ocular albinism and oculocutaneous albinism type 1, 2, 3, 4, 6, 7, 8 (gene panel)
- Oculocutaneous albinism / Ocular albinism / Isolated nystagmus (gene panel)
- Skin disorders (gene panel)
-
Ataxia (348 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABCB7 99.99 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACADVL 98.04 0 No comment ACO2 100.00 0 No comment COQ8A 99.92 0 No comment AFG3L2 94.80 0 No comment AHI1 100.00 0 No comment ALAS2 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH5A1 84.13 0 No comment ALG6 100.00 0 No comment ALS2 100.00 0 No comment AMACR 96.78 0 No comment AMPD2 99.90 0 No comment AMT 100.00 0 No comment ANO10 100.00 0 No comment AP1S2 100.00 0 No comment APTX 99.96 0 No comment ARL13B 99.98 0 No comment ARL6 100.00 0 No comment ARSA 100.00 0 No comment ARX 100.00 0 No comment ASPA 100.00 0 No comment ATCAY 100.00 0 No comment ATG5 100.00 0 No comment ATL1 99.89 0 No comment ATM 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2B2 100.00 0 No comment ATP2B3 99.89 0 No comment ATP7B 100.00 0 No comment ATP8A2 99.91 0 No comment ATXN1 100.00 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment ATXN3 99.47 0 No comment ATXN7 98.67 0 No comment B9D1 99.89 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 99.97 0 No comment BBS5 100.00 0 No comment BBS7 99.99 0 No comment BBS9 99.93 0 No comment BEAN1 100.00 0 No comment BIVM 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment CPLANE1 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1G 99.97 0 No comment CACNB4 99.95 0 No comment CAMTA1 99.98 0 No comment CAPN1 99.97 0 No comment CASK 99.99 0 No comment CC2D2A 100.00 0 No comment CCDC88C 99.64 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CHMP1A 100.00 0 No comment CLCN2 100.00 0 No comment CLN5 98.80 0 No comment CLN6 90.40 0 No comment CLPP 97.95 0 No comment COA7 100.00 0 No comment COASY 100.00 0 No comment COG5 99.95 0 No comment COQ2 99.66 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX20 95.39 0 No comment CP 100.00 0 No comment CRAT 99.29 0 No comment CSTB 98.75 0 No comment CWF19L1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DARS1 100.00 0 No comment DARS2 100.00 0 No comment DDB2 100.00 0 No comment DDHD2 100.00 0 No comment DLAT 100.00 0 No comment DMXL2 100.00 0 No comment DNAJC19 99.65 0 No comment DNAJC3 99.99 0 No comment DNAJC5 100.00 0 No comment DNMT1 99.54 0 No comment EBF3 99.94 0 No comment EEF2 100.00 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELOVL5 100.00 0 No comment EPM2A 97.21 0 No comment ERCC2 99.22 0 No comment ERCC3 100.00 0 No comment ERCC4 99.99 0 No comment ERCC5 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FA2H 95.71 0 No comment FARS2 100.00 0 No comment FBXL4 100.00 0 No comment FDXR 100.00 0 No comment FGF14 100.00 0 No comment FLVCR1 100.00 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FRMD7 99.98 0 No comment FXN 100.00 0 No comment GALC 98.98 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCLC 99.98 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GJC2 96.72 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLRX5 100.00 0 No comment GM2A 100.00 0 No comment GOSR2 100.00 0 No comment GPAA1 95.08 0 No comment GPR143 89.09 0 No comment ADGRG1 99.99 0 No comment GRID2 100.00 0 No comment GRM1 99.99 0 No comment GSS 100.00 0 No comment HARS2 100.00 0 No comment HEPACAM 99.85 0 No comment HERC1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HIBCH 100.00 0 No comment HPRT1 92.71 0 No comment HTRA1 75.65 0 No comment IFRD1 98.86 0 No comment IGDCC3 95.07 0 No comment INPP5E 99.14 0 No comment IRF2BPL 97.56 0 No comment ITM2B 100.00 0 No comment ITPR1 99.99 0 No comment KCNA1 100.00 0 No comment KCNC3 76.20 0 No comment KCND3 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ6 100.00 0 No comment KCNMA1 99.93 0 No comment WASHC5 100.00 0 No comment RUBCN 96.60 0 No comment NEXMIF 100.00 0 No comment KIF1A 98.74 0 No comment KIF1C 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment L2HGDH 99.75 0 No comment LAMA1 99.79 0 No comment LAMB1 100.00 0 No comment LARS2 100.00 0 No comment LMNB1 97.00 0 No comment LRPPRC 98.80 0 No comment LYST 100.00 0 No comment MFSD8 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLC1 98.57 0 No comment MMACHC 100.00 0 No comment MME 100.00 0 No comment MRE11 99.05 0 No comment MSTO1 99.96 0 No comment MTFMT 97.83 0 No comment MTPAP 99.98 0 No comment MTRR 100.00 0 No comment MTTP 100.00 0 No comment MVK 100.00 0 No comment NANS 100.00 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NEFL 99.62 0 No comment NEU1 100.00 0 No comment NHLRC1 96.01 0 No comment NKX6-2 94.10 0 No comment NOL3 100.00 0 No comment NOP56 99.99 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OFD1 97.13 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPHN1 99.94 0 No comment OTUD4 100.00 0 No comment PAX6 100.00 0 No comment PDGFRB 99.98 0 No comment PDHX 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PDYN 100.00 0 No comment PEX10 87.10 0 No comment PEX16 99.97 0 No comment PEX2 100.00 0 No comment PEX7 95.60 0 No comment PHYH 99.81 0 No comment PIK3R5 100.00 0 No comment PLA2G6 100.00 0 No comment PLEKHG4 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMPCA 100.00 0 No comment PNKD 99.93 0 No comment PNKP 99.84 0 No comment PNPLA6 99.95 0 No comment POLG 100.00 0 No comment POLH 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment PPP2R2B 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKCG 100.00 0 No comment PRNP 99.92 0 No comment PRPS1 99.91 0 No comment PRRT2 100.00 0 No comment PTEN 99.45 0 No comment PUM1 100.00 0 No comment RAB18 99.99 0 No comment RAB3A 100.00 0 No comment RAB3GAP1 100.00 0 No comment RARS2 100.00 0 No comment RELN 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2C 100.00 0 No comment RNF170 100.00 0 No comment RNF216 100.00 0 No comment RPGRIP1L 96.40 0 No comment RRM2B 100.00 0 No comment SACS 99.95 0 No comment SAMD9L 100.00 0 No comment SAMHD1 100.00 0 No comment SAR1B 100.00 0 No comment SCN8A 100.00 0 No comment SEC16A 99.98 0 No comment SEPSECS 99.57 0 No comment SERAC1 100.00 0 No comment SETX 100.00 0 No comment SIL1 99.95 0 No comment SKOR1 98.57 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC39A8 98.92 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC9A1 100.00 0 No comment SLC9A6 99.66 0 No comment SMPD1 100.00 0 No comment SNX14 99.98 0 No comment SPAST 99.83 0 No comment SPG11 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN2 99.93 0 No comment SRD5A3 98.61 0 No comment STUB1 99.69 0 No comment SYNE1 100.00 0 No comment SYT14 92.28 0 No comment TANGO2 99.94 0 No comment TBC1D20 95.06 0 No comment TBCC 100.00 0 No comment TBP 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TDP1 100.00 0 No comment TDP2 100.00 0 No comment TGM6 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment TMEM240 96.75 0 No comment TMEM67 99.95 0 No comment ACD 99.99 0 No comment TRIM32 100.00 0 No comment TRPC3 99.48 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TSFM 100.00 0 No comment TTBK2 100.00 0 No comment TTC19 100.00 0 No comment TTC8 99.73 0 No comment TTPA 96.80 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TYMP 100.00 0 No comment UBA5 100.00 0 No comment VAMP1 100.00 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS13D 100.00 0 No comment VRK1 100.00 0 No comment VWA3B 100.00 0 No comment WDPCP 99.11 0 No comment WDR73 100.00 0 No comment WDR81 99.63 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XPA 98.10 0 No comment XPC 100.00 0 No comment XPR1 99.91 0 No comment XRCC1 99.95 0 No comment ZC4H2 100.00 0 No comment ZFYVE26 100.00 0 No comment ZNF423 100.00 0 No comment ZNF592 100.00 0 No comment -
Ataxia Spasticity - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AARS1 99.99 1 ABCA2 100.00 1 ABCB7 99.58 1 ABCD1 99.98 1 ABHD12 99.98 1 ACO2 99.99 1 ADAR 99.84 1 ADGRG1 99.90 1 ADPRS 99.94 1 AFG3L2 99.97 1 AGTPBP1 99.68 1 AHI1 99.86 1 AIFM1 99.92 1 AIMP1 99.97 1 ALDH18A1 99.96 1 ALDH5A1 96.19 1 ALG6 93.37 1 ALS2 99.87 1 AMPD2 99.91 1 ANO10 99.93 1 AP4B1 96.92 1 AP4E1 99.94 1 AP4M1 99.98 1 AP4S1 87.89 1 AP5Z1 100.00 1 APOB 99.99 1 APTX 99.92 1 ARG1 99.95 1 ARL13B 99.53 1 ARL6IP1 99.51 1 ARSA 99.99 1 ARSI 100.00 1 ARX 95.36 1 ASPA 99.98 1 ATCAY 100.00 1 ATG5 99.81 1 ATL1 99.95 1 ATM 99.83 1 ATP13A2 99.96 1 ATP1A3 99.98 1 ATP2B3 99.98 1 ATP7B 100.00 1 ATP8A2 100.00 1 AUH 99.95 1 B4GALNT1 99.97 1 BCKDHA 99.97 1 BCKDHB 99.73 1 BCL11B 100.00 1 BCS1L 99.99 1 BICD2 99.99 1 BSCL2 99.99 1 BTD 100.00 1 C19ORF12 99.99 1 CA8 99.71 1 CACNA1A 98.16 1 CACNA1E 99.82 1 CACNA1G 99.95 1 CACNB4 99.20 1 CAMTA1 99.97 1 CAPN1 99.99 1 CC2D2A 99.95 1 CCDC88C 100.00 1 CCT5 99.99 1 CDK16 99.99 1 CEP290 98.10 1 CHP1 99.90 1 CLCN2 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COQ2 99.90 1 COQ4 100.00 1 COQ8A 100.00 1 COQ9 99.62 1 COX10 99.99 1 COX15 100.00 1 COX20 99.67 1 CP 99.95 1 CPT1C 99.99 1 CSTB 100.00 1 CTBP1 99.98 1 CWF19L1 99.91 1 CYP27A1 100.00 1 CYP2U1 99.99 1 CYP7B1 99.82 1 DAB1 97.87 1 DARS1 98.85 1 DARS2 98.31 1 DBT 94.51 1 DDHD1 99.93 1 DDHD2 99.97 1 DDX3X 99.01 1 DEGS1 99.99 1 DLAT 99.65 1 DLD 99.89 1 DNAJC19 99.76 1 DNAJC3 99.92 1 DNAJC5 99.99 1 DNMT1 99.13 1 DOCK3 99.96 1 EARS2 99.96 1 EBF3 99.99 1 ECHS1 100.00 1 EEF2 99.95 1 EIF2AK1 99.90 1 ELOVL1 100.00 1 ELOVL4 99.91 1 ELOVL5 99.87 1 EMC1 99.85 1 ENTPD1 99.98 1 EPM2A 99.99 1 ERCC1 99.96 1 ERCC4 99.92 1 ERCC8 99.79 1 ERLIN1 99.98 1 ERLIN2 99.94 1 EXOSC3 100.00 1 FA2H 99.98 1 FARS2 100.00 1 FASTKD2 99.93 1 FAT2 99.99 1 FGF14 99.99 1 FITM2 99.99 1 FLRT1 100.00 1 FLVCR1 99.91 1 FOLR1 100.00 1 FRMD4A 100.00 1 FRMD7 99.97 1 GALC 99.92 1 GAN 99.98 1 GBA2 99.99 1 GBE1 99.73 1 GDAP2 95.02 1 GFAP 99.99 1 GFM2 99.87 1 GJC2 100.00 1 GLB1 100.00 1 GLRX5 100.00 1 GLS 99.78 1 GM2A 100.00 1 GOSR2 98.92 1 GPR143 99.60 1 GRID2 99.97 1 GRIN1 100.00 1 GRM1 100.00 1 GRN 100.00 1 GSX2 100.00 1 HACE1 99.76 1 HEXA 99.99 1 HEXB 99.91 1 HSD17B10 99.98 1 HSD17B4 99.71 1 HSPD1 83.42 1 IBA57 100.00 1 IFIH1 99.84 1 IFRD1 99.67 1 IFT140 100.00 1 INTS8 99.89 1 IRF2BPL 99.21 1 ISCA1 99.79 1 ITM2B 99.85 1 ITPR1 99.98 1 JAM2 91.82 1 KANK1 99.99 1 KCNA1 100.00 1 KCNA2 99.99 1 KCNA4 100.00 1 KCNC3 99.98 1 KCND3 99.98 1 KCNJ10 99.98 1 KCNJ6 100.00 1 KCNMA1 99.89 1 KCNQ2 100.00 1 KCTD7 99.98 1 KIDINS220 99.94 1 KIF1A 99.96 1 KIF1C 99.99 1 KIF5A 99.91 1 KLC2 100.00 1 L1CAM 99.98 1 L2HGDH 99.92 1 LAMA1 99.98 1 LAMB1 99.87 1 LIPT2 99.99 1 LYRM7 99.98 1 LYST 99.87 1 ERCC2 99.99 1 MAN2B1 99.99 1 MARS1 99.97 1 MARS2 100.00 1 MCOLN1 100.00 1 MECP2 99.95 1 MLC1 99.99 1 MMADHC 99.76 1 MME 97.17 1 MPV17 99.98 1 MRE11 99.93 1 MRPS34 100.00 1 MSTO1 76.34 1 MTCL1 100.00 1 MTPAP 99.97 1 MTRFR 99.87 1 MTTP 99.92 1 MYORG 99.99 1 NANS 100.00 1 NDUFA9 100.00 1 NDUFAF4 99.95 1 NDUFAF6 99.86 1 NDUFS1 99.79 1 NDUFS3 100.00 1 NDUFS7 99.99 1 NEFL 100.00 1 NEU1 99.98 1 NEXMIF 99.99 1 NF2 100.00 1 NHLRC1 100.00 1 NIPA1 99.91 1 NKX6-2 100.00 1 NOL3 100.00 1 NPC1 99.99 1 NPC2 100.00 1 NT5C2 99.96 1 NTNG2 99.98 1 NUP93 99.87 1 NUS1 99.90 1 OCLN 82.91 1 OFD1 99.68 1 MED12 99.95 1 OPA3 100.00 1 OPHN1 99.92 1 OTC 99.42 1 PARS2 99.99 1 PODXL 99.99 1 PCDH12 100.00 1 PCYT2 100.00 1 PDHA1 99.04 1 PDHX 99.64 1 PDYN 100.00 1 PEX10 100.00 1 PEX16 99.94 1 PEX7 99.72 1 PGAP1 99.56 1 PHYH 100.00 1 PIK3R5 99.99 1 PLA2G6 99.98 1 PLAA 99.79 1 PLD3 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMPCA 99.99 1 PMPCB 99.94 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLR3A 99.97 1 POLR3B 99.94 1 PRF1 100.00 1 PRKCG 99.99 1 PRNP 100.00 1 PRPS1 99.95 1 PRRT2 99.97 1 PSAP 99.94 1 PSEN1 100.00 1 PTPN23 100.00 1 PTRH2 99.99 1 PUM1 98.14 1 RAB11B 100.00 1 RAB18 99.76 1 RAB3GAP1 99.73 1 RAB3GAP2 99.69 1 REEP1 99.97 1 REEP2 99.99 1 RETREG1 99.99 1 RNASEH2A 99.95 1 RNASEH2B 99.94 1 RNASEH2C 99.99 1 RNF168 99.97 1 RNF170 99.90 1 RNF216 99.99 1 RORA 99.97 1 RPGRIP1L 96.35 1 RTN2 99.98 1 RTN4IP1 99.98 1 RUBCN 100.00 1 SACS 99.97 1 SAMD9L 99.95 1 SAMHD1 99.98 1 SARS1 98.53 1 SCN8A 99.77 1 SCYL1 100.00 1 SDHA 99.98 1 SDHAF1 99.99 1 SDHD 82.93 1 SEPSECS 99.78 1 SETX 99.97 1 SIL1 99.95 1 SLC13A5 99.99 1 SLC16A2 99.97 1 SLC17A5 99.71 1 SLC19A3 99.95 1 SLC1A3 99.98 1 SLC1A4 99.97 1 SLC25A15 100.00 1 SLC25A46 99.88 1 SLC2A1 99.93 1 SLC33A1 99.67 1 SLC44A1 99.90 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC6A8 99.99 1 SLC9A1 99.96 1 SLC9A6 99.42 1 SMPD1 100.00 1 SNAP25 99.89 1 SNX14 99.73 1 SOX10 100.00 1 SPART 99.98 1 SPAST 99.77 1 SPG11 99.89 1 SPG21 99.97 1 SPG7 99.99 1 SPR 99.99 1 SPTAN1 99.96 1 SPTBN2 99.98 1 SQSTM1 100.00 1 SRD5A3 99.94 1 STUB1 99.99 1 SUCLA2 99.96 1 SUOX 100.00 1 SURF1 100.00 1 SVBP 99.04 1 SYNE1 99.95 1 SYT14 99.94 1 TANGO2 99.85 1 TBC1D20 100.00 1 TDP1 99.97 1 TDP2 99.97 1 TECPR2 99.96 1 TENM3 99.99 1 TFG 98.68 1 TGM6 99.99 1 THG1L 99.99 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM240 99.99 1 TMEM67 99.69 1 TMX2 99.99 1 ACD 99.99 1 TRAK1 99.98 1 TRAPPC12 99.96 1 TRAPPC4 100.00 1 TRIT1 99.25 1 TRPC3 99.97 1 TSEN2 99.98 1 TSEN54 100.00 1 TTBK2 99.93 1 TTC19 99.99 1 TTPA 99.88 1 TUBA1A 99.97 1 TUBB4A 100.00 1 TUBG1 99.95 1 TWNK 100.00 1 UBA5 99.95 1 UBAP1 99.51 1 UBTF 99.99 1 UCHL1 99.99 1 UFC1 99.35 1 UFM1 99.25 1 UGP2 99.85 1 USP8 99.67 1 VAMP1 100.00 1 VCP 99.99 1 VLDLR 99.99 1 VPS13B 99.90 1 VPS13D 99.96 1 VPS37A 99.96 1 VRK1 99.98 1 VWA3B 98.82 1 WARS2 97.72 1 WASHC5 99.98 1 WDR45B 100.00 1 WDR48 99.42 1 WDR73 99.92 1 WDR81 100.00 1 WWOX 100.00 1 XRCC1 99.96 1 ZC4H2 99.98 1 ZFR 99.94 1 ZFYVE26 100.00 1 ZFYVE27 99.99 1 -
Dermatogenetic / severe, rare and hereditary genodermatoses (394 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 AAGAB 97.88 0 ABCA12 100.00 0 ABCB6 100.00 0 ABCC6 99.97 0 ABHD5 100.00 0 ACD 100.00 0 ADAM10 100.00 0 ADAMTS2 95.82 0 ADAR 100.00 0 AIM1 100.00 0 AKT1 100.00 0 ALDH18A1 100.00 0 ALDH3A2 99.94 0 ALOX12B 100.00 0 ALOXE3 100.00 0 ANTXR1 100.00 0 AP1S1 100.00 0 AP3B1 100.00 0 APCDD1 99.97 0 AQP5 99.87 0 ARHGAP31 100.00 0 ARSL 99.95 0 ASAH1 100.00 0 ATM 100.00 0 ATP2A2 100.00 0 ATP2C1 100.00 0 ATP6V0A2 99.98 0 ATP6V1A 100.00 0 ATP6V1E1 99.99 0 ATP7A 100.00 0 AXIN2 100.00 0 B3GALT6 63.11 0 B4GALT7 90.91 0 BANF1 97.55 0 BCS1L 100.00 0 BLM 100.00 0 BLOC1S3 95.69 0 BLOC1S6 100.00 0 BRAF 96.86 0 LRMDA 100.00 0 KDF1 100.00 0 CARD14 99.96 0 CBL 100.00 0 CBS 99.92 0 CD151 99.99 0 CDH3 100.00 0 CDK4 100.00 0 CDKN1B 100.00 0 CDKN2A 99.69 0 CDSN 99.93 0 CERS3 100.00 0 CHST14 99.81 0 CHST8 100.00 0 CHUK 99.59 0 CLCF1 100.00 0 CLDN1 100.00 0 CLDN10 100.00 0 COG6 100.00 0 COL11A1 100.00 0 COL12A1 100.00 0 COL17A1 100.00 0 COL1A1 100.00 0 COL1A2 99.41 0 COL3A1 99.99 0 COL5A1 98.23 0 COL5A2 100.00 0 COL7A1 100.00 0 CREBBP 99.98 0 CRLF1 89.67 0 CSTA 100.00 0 CTC1 99.71 0 CTSC 100.00 0 CYLD 100.00 0 CYP26C1 97.30 0 CYP4F22 99.27 0 DDB2 100.00 0 DIP2B 99.71 0 DKC1 99.92 0 DLL4 100.00 0 DLX3 99.95 0 DNMT1 99.69 0 DOCK6 99.13 0 DOLK 100.00 0 DSC3 98.96 0 DSE 100.00 0 DSG1 100.00 0 DSG2 99.89 0 DSG4 100.00 0 DSP 100.00 0 DST 100.00 0 DTNBP1 99.96 0 GLB1 100.00 0 ECM1 100.00 0 EDA 99.05 0 EDAR 100.00 0 EDARADD 100.00 0 EDN3 99.95 0 EDNRB 100.00 0 EFEMP2 100.00 0 ELN 99.96 0 ELOVL4 100.00 0 ENPP1 97.25 0 EOGT 100.00 0 EP300 100.00 0 EPG5 99.99 0 ERCC2 99.35 0 ERCC3 100.00 0 ERCC4 99.99 0 ERCC5 100.00 0 ERCC6 100.00 0 ERCC8 100.00 0 EVC 94.53 0 EVC2 98.69 0 EXPH5 100.00 0 F12 99.81 0 FAM111B 100.00 0 RETREG1 93.87 0 FAM83G 100.00 0 FBLN5 100.00 0 FBN1 100.00 0 FBN2 100.00 0 FERMT1 99.96 0 FGFR2 100.00 0 FGFR3 99.36 0 FH 100.00 0 FKBP14 100.00 0 FLCN 100.00 0 FGFR1 100.00 0 FLG2 100.00 0 FOXN1 100.00 0 FZD6 100.00 0 GALNT3 100.00 0 GAN 98.95 0 GBA1 100.00 0 GGCX 99.91 0 GHR 99.21 0 GJA1 100.00 0 GJB2 100.00 0 GJB3 100.00 0 GJB4 100.00 0 GJB6 100.00 0 GLA 100.00 0 GNAS 100.00 0 GORAB 100.00 0 GPR143 89.17 0 GRHL2 100.00 0 GSN 97.95 0 GTF2E2 100.00 0 GTF2H5 100.00 0 HAMP 100.00 0 HCCS 100.00 0 HDAC8 99.82 0 HFE 100.00 0 HJV 100.00 0 HGD 100.00 0 HLCS 100.00 0 HOXC13 96.56 0 HPGD 99.87 0 HPS1 100.00 0 HPS3 99.99 0 HPS4 99.99 0 HPS5 100.00 0 HPS6 96.32 0 HR 99.78 0 HRAS 100.00 0 IFT122 99.99 0 IFT43 100.00 0 ELP1 100.00 0 IKBKG 96.27 0 IL31RA 100.00 0 INSR 96.81 0 ITGA3 99.99 0 ITGA6 100.00 0 ITGB4 98.77 0 JUP 100.00 0 KANK2 99.99 0 KCNH1 100.00 0 KCTD1 100.00 0 KDM6A 99.63 0 KDSR 99.98 0 KIF1A 99.07 0 KIT 99.98 0 KITLG 100.00 0 KL 96.52 0 KLHL24 100.00 0 KLLN 100.00 0 KMT2D 99.99 0 KRAS 100.00 0 KREMEN1 92.10 0 KRT1 99.80 0 KRT10 99.93 0 KRT14 100.00 0 KRT16 99.48 0 KRT17 92.10 0 KRT2 100.00 0 KRT5 100.00 0 KRT6A 100.00 0 KRT6B 100.00 0 KRT6C 99.44 0 KRT71 99.95 0 KRT74 99.99 0 KRT81 100.00 0 KRT83 99.99 0 KRT85 99.27 0 KRT86 99.98 0 KRT9 100.00 0 LAMA4 99.75 0 LAMB3 100.00 0 LAMC2 99.43 0 LEMD3 99.97 0 LIPH 100.00 0 LIPN 100.00 0 LMNA 99.52 0 LMX1B 99.55 0 LORICRIN 100.00 0 LPAR6 100.00 0 LRP1 100.00 0 LTBP4 99.49 0 LYST 100.00 0 LZTR1 99.92 0 MAP2K1 100.00 0 MAP2K2 99.99 0 MAPRE2 100.00 0 MBTPS2 100.00 0 MC1R 100.00 0 MEN1 99.83 0 MITF 100.00 0 MLH1 99.99 0 MLPH 100.00 0 MMP1 99.99 0 MMP2 99.93 0 MPDU1 100.00 0 MPLKIP 100.00 0 MSH2 100.00 0 MSH6 99.92 0 MSMO1 100.00 0 MSX1 99.53 0 MUTYH 100.00 0 MYO5A 99.78 0 NF1 98.85 0 NF2 99.97 0 NFKBIA 99.97 0 NGF 100.00 0 NHP2 100.00 0 NIPAL4 100.00 0 NIPBL 99.62 0 RMRP 100.00 0 NOP10 100.00 0 NOTCH1 98.81 0 NRAS 100.00 0 NSDHL 100.00 0 NTRK1 98.91 0 OCA2 99.73 0 OFD1 97.68 0 ORAI1 93.55 0 OSMR 100.00 0 PADI3 100.00 0 PARN 100.00 0 PAX3 100.00 0 PDGFRB 100.00 0 PEX7 96.12 0 PHYH 99.87 0 PIGL 100.00 0 PIK3CA 100.00 0 PKP1 100.00 0 PLCD1 99.74 0 PLEC 99.33 0 PLOD1 98.77 0 PLOD3 99.97 0 PMS2 98.83 0 PNPLA1 99.66 0 POFUT1 99.99 0 POGLUT1 100.00 0 POLD1 99.84 0 POLH 100.00 0 NT5C3A 100.00 0 PORCN 99.13 0 PPP1CB 100.00 0 PRDM12 83.27 0 PRDM5 100.00 0 PRKAR1A 100.00 0 PRKD1 97.12 0 PSAT1 99.73 0 PSENEN 100.00 0 PTCH1 99.03 0 PTCH2 100.00 0 PTDSS1 100.00 0 PTEN 99.64 0 PTPN11 94.81 0 NECTIN1 99.68 0 NECTIN4 99.41 0 PYCR1 100.00 0 RAB27A 100.00 0 RAD21 100.00 0 RAF1 100.00 0 RASA2 99.74 0 RBPJ 99.69 0 RECQL4 96.90 0 RET 96.88 0 RHBDF2 100.00 0 RIN2 100.00 0 RIPK4 99.98 0 RIT1 100.00 0 RNF113A 100.00 0 RPL21 84.30 0 RRAS 98.63 0 RSPO1 100.00 0 RTEL1 100.00 0 SASH1 99.88 0 SCN11A 99.99 0 SCN9A 99.99 0 SDHB 99.35 0 SDHD 99.95 0 SEC23B 100.00 0 SERPINB7 100.00 0 SERPINB8 100.00 0 SERPING1 97.68 0 SETBP1 100.00 0 SGPL1 100.00 0 SHOC2 100.00 0 HHAT 93.18 0 SKIC2 100.00 0 SLC24A5 100.00 0 SLC27A4 99.97 0 SLC29A3 95.73 0 SLC2A10 97.06 0 SLC39A13 100.00 0 SLC39A4 100.00 0 SLC45A2 100.00 0 SLC6A19 99.99 0 SLURP1 100.00 0 SMAD3 100.00 0 SMARCAD1 99.97 0 SMARCB1 100.00 0 SMC3 100.00 0 SMPD1 100.00 0 SNAI2 100.00 0 SNAP29 100.00 0 SNRPE 99.04 0 SOS1 100.00 0 SOS2 99.97 0 SOX10 97.31 0 SPINK5 100.00 0 SPRED1 100.00 0 SPRY1 100.00 0 SPTLC1 99.44 0 SRD5A3 98.97 0 ST14 99.95 0 STK11 99.81 0 STS 99.94 0 SUFU 100.00 0 SULT2B1 100.00 0 SUMF1 100.00 0 TAT 100.00 0 TCHH 100.00 0 TERT 93.51 0 TFR2 100.00 0 TGFB2 99.97 0 TGFB3 100.00 0 TGFBR1 91.97 0 TGFBR2 100.00 0 TGM1 100.00 0 TGM3 100.00 0 TGM5 100.00 0 TINF2 99.96 0 TMC6 99.87 0 TNXB 100.00 0 TP63 100.00 0 TRPS1 100.00 0 TRPV3 99.99 0 TSC1 100.00 0 TSC2 99.99 0 SKIC3 99.99 0 TUBB 100.00 0 TWIST2 99.15 0 TYR 100.00 0 TYRP1 100.00 0 UBR1 100.00 0 USB1 100.00 0 UVSSA 100.00 0 VPS33B 100.00 0 WDR19 100.00 0 WDR35 100.00 0 WNK1 100.00 0 WNT10A 94.15 0 WRAP53 100.00 0 WRN 100.00 0 XPA 97.89 0 XPC 100.00 0 ZMPSTE24 100.00 0 ZNF469 99.97 0 ZNF750 100.00 0 TERC 100.00 0 t -
Hereditary spastic paraplegia (188 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCD1 97.56 1 ABHD12 88.30 1 ADAR 100.00 1 AFG3L2 94.80 1 AIMP1 99.97 1 ALDH18A1 100.00 1 ALDH3A2 99.94 1 ALS2 100.00 1 AMPD2 99.90 1 ANG 100.00 1 AP4B1 100.00 1 AP4E1 99.99 1 AP4M1 100.00 1 AP4S1 100.00 1 AP5Z1 99.25 1 ARG1 100.00 1 ARL6IP1 100.00 1 ARSI 99.82 1 ASPA 100.00 1 ATAD3A 97.50 1 ATL1 99.89 1 ATP13A2 98.30 1 AUH 99.24 1 B4GALNT1 99.99 1 BICD2 100.00 1 BSCL2 100.00 1 BTD 100.00 1 MTRFR 100.00 1 C19ORF12 100.00 1 CAPN1 99.97 1 CCT5 99.92 1 CDK16 99.96 1 CLN8 100.00 1 COASY 100.00 1 CPT1C 100.00 1 CSF1R 99.99 1 CTNNB1 100.00 1 CYP27A1 99.38 1 CYP2U1 93.20 1 CYP7B1 100.00 1 DARS1 100.00 1 DARS2 100.00 1 DDHD1 99.58 1 DDHD2 100.00 1 DSTYK 100.00 1 ELOVL4 100.00 1 ENTPD1 100.00 1 ERCC2 98.91 1 ERLIN1 100.00 1 ERLIN2 100.00 1 EXOSC3 100.00 1 FA2H 95.71 1 HYCC1 100.00 1 RETREG1 100.00 1 FARS2 100.00 1 FBXO7 99.78 1 FIG4 100.00 1 FLRT1 100.00 1 FRMD7 99.98 1 FUS 100.00 1 FXN 100.00 1 GAD1 100.00 1 GALC 98.98 1 GAN 98.52 1 GARS1 97.89 1 GART 99.99 1 GBA1 100.00 1 GBA2 100.00 1 GBE1 100.00 1 GCH1 99.71 1 GFAP 100.00 1 GJA1 100.00 1 GJC2 96.72 1 GLB1 100.00 1 GLRX5 100.00 1 GLTP 100.00 1 GPR143 89.09 1 GSN 97.80 1 HACE1 98.41 1 HEPACAM 99.85 1 HEXA 100.00 1 HSD17B4 100.00 1 HSPD1 100.00 1 IBA57 92.01 1 IFIH1 100.00 1 IRF2BPL 97.56 1 KCNJ6 100.00 1 KCNMA1 99.93 1 KDM5C 99.97 1 WASHC5 100.00 1 NEXMIF 100.00 1 KIDINS220 100.00 1 KIF1A 98.74 1 KIF1C 100.00 1 KIF5A 100.00 1 KLC2 100.00 1 KLC4 99.99 1 L1CAM 99.98 1 L2HGDH 99.75 1 LAMB1 100.00 1 LYST 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MFN2 100.00 1 MLC1 98.57 1 MTPAP 99.98 1 NANS 100.00 1 NEFL 100.00 1 NIPA1 92.99 1 NKX6-2 100.00 1 NT5C2 100.00 1 OCLN 100.00 1 MED12 99.98 1 OPA3 100.00 1 OPTN 100.00 1 PANK2 100.00 1 PDYN 100.00 1 PGAP1 100.00 1 PLA2G6 100.00 1 PLP1 100.00 1 PNPLA6 99.95 1 POLR3A 100.00 1 POLR3B 100.00 1 PPP2R2B 100.00 1 PRUNE1 100.00 1 PSEN1 100.00 1 PUM1 100.00 1 RAB18 99.99 1 RAB3GAP1 100.00 1 RAB3GAP2 100.00 1 RARS1 99.99 1 REEP1 100.00 1 REEP2 97.04 1 RNASEH2A 100.00 1 RNASEH2B 94.58 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RTN2 99.44 1 SACS 99.95 1 SAMD9L 100.00 1 SAMHD1 100.00 1 SERAC1 100.00 1 SETX 100.00 1 SIL1 99.95 1 SLC16A2 99.97 1 SLC25A15 100.00 1 SLC25A46 100.00 1 SLC2A1 100.00 1 SLC33A1 100.00 1 SLC39A14 99.94 1 SMPD1 100.00 1 SOD1 100.00 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 100.00 1 SPART 100.00 1 SPG21 100.00 1 SPG7 95.78 1 SPR 99.98 1 SUN1 100.00 1 SYNE1 100.00 1 TANGO2 99.94 1 TARDBP 99.43 1 TBC1D20 95.06 1 TECPR2 99.92 1 TFG 99.98 1 TGM6 100.00 1 TH 98.79 1 TRPV4 100.00 1 TTBK2 100.00 1 TUBB4A 100.00 1 TUBG1 100.00 1 UBQLN2 99.30 1 UCHL1 99.66 1 USP8 100.00 1 VAMP1 100.00 1 VAPB 99.77 1 VCP 97.10 1 VPS13B 100.00 1 VPS37A 99.28 1 WDR45 100.00 1 WDR45B 99.94 1 WDR48 100.00 1 ZC4H2 100.00 1 ZFR 100.00 1 ZFYVE26 100.00 1 ZFYVE27 100.00 1 -
Ocular and oculocutaneous albinism - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments TYR 100.00 1 OCA2 100.00 1 TYRP1 100.00 0 SLC45A2 100.00 0 SLC24A5 100.00 0 LRMDA 100.00 0 GPR143 100.00 1 DCT 100.00 0 -
Oculocutaneous albinism / Ocular albinism - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AHR 99.79 1 AP3B1 99.89 1 AP3D1 100.00 1 BLOC1S3 100.00 1 BLOC1S5 99.80 1 BLOC1S6 99.98 1 DCT 99.98 1 DTNBP1 99.89 1 EPG5 99.95 1 FRMD7 99.97 1 GPR143 99.60 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 LRMDA 99.87 1 LYST 99.87 1 MC1R 100.00 1 MITF 99.98 1 MLPH 100.00 1 MYO5A 99.94 1 OCA2 99.60 1 PAX6 99.95 1 RAB27A 99.94 1 SLC24A5 99.99 1 SLC38A8 99.99 1 SLC45A2 100.00 1 TYR 100.00 1 TYRP1 99.97 1 -
Skin disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AAGAB 100.00 1 ABCA12 99.94 1 ABCB6 99.97 1 ABHD5 99.98 1 ADAM10 99.88 1 ADAR 99.84 1 ADGRE2 98.77 1 ALDH3A2 99.95 1 ALOX12B 100.00 1 ALOXE3 99.98 1 ALX4 100.00 1 ANTXR1 99.83 1 ANTXR2 99.67 1 AP1S1 99.49 1 AP3B1 99.89 1 AP3D1 100.00 1 APCDD1 99.99 1 AQP5 99.88 1 ARHGAP31 100.00 1 ARSL 99.93 1 ATP2A2 99.98 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 AXIN2 100.00 1 BANF1 99.84 1 BCS1L 99.99 1 BLM 99.80 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMS1 85.80 1 BRAF 99.78 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C5 99.92 1 CARD11 99.97 1 CARD14 99.99 1 CASP10 99.85 1 CASP14 99.86 1 CASP8 99.92 1 CAST 99.94 1 CBL 99.95 1 CD151 100.00 1 CDH1 99.98 1 CDH3 99.98 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDSN 99.94 1 CERS3 99.85 1 CHST8 100.00 1 CHUK 99.83 1 CLDN1 99.99 1 CLDN10 99.97 1 COG6 99.86 1 COL17A1 99.98 1 COL18A1 99.99 1 COL7A1 99.99 1 COX7B 99.86 1 CYP11B1 100.00 1 CSTB 99.99 1 CSTA 99.83 1 CTLA4 99.99 1 CTSC 99.97 1 CYLD 99.46 1 CYP11A1 99.99 1 CYP21A2 99.85 1 CYP26C1 99.92 1 CYP4F22 99.97 1 DCAF17 99.84 1 DCLRE1C 99.79 1 DCPS 99.98 1 DDB2 100.00 1 DHCR24 99.93 1 DIP2B 99.65 1 DKC1 99.59 1 DLL4 100.00 1 DOCK6 100.00 1 DOCK8 99.86 1 DPH1 100.00 1 DSC3 99.73 1 DSG1 99.35 1 DSG3 99.97 1 DSG4 99.91 1 DSP 100.00 1 DST 99.52 1 DSTYK 99.83 1 DTNBP1 99.89 1 GLB1 99.92 1 EDA 99.44 1 EDAR 99.89 1 EDARADD 99.98 1 EDN3 100.00 1 EDNRA 99.97 1 EDNRB 99.99 1 ELOVL4 99.91 1 ENPP1 99.88 1 EOGT 99.09 1 EPG5 99.95 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC8 99.79 1 EVC 99.95 1 EVC2 99.97 1 EXPH5 99.81 1 F12 99.99 1 FAM111B 99.98 1 FAS 99.99 1 FASLG 99.84 1 FECH 99.98 1 FERMT1 99.90 1 FGFR1 98.88 1 FGFR3 100.00 1 FOXN1 99.97 1 FZD6 99.95 1 GBA1 96.92 1 GINS1 99.99 1 GJA1 100.00 1 GJB2 100.00 1 GJB3 99.99 1 GJB4 100.00 1 GJB6 100.00 1 GPR143 99.60 1 GREM2 100.00 1 GRHL2 100.00 1 GRIN2B 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 HCCS 99.90 1 HOXC13 99.98 1 HPGD 99.98 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 HR 99.95 1 HRAS 100.00 1 HSPA9 99.96 1 IFT122 99.98 1 IFT43 99.97 1 IKBKG 57.34 1 IL2RA 99.99 1 IL31RA 100.00 1 ITGA3 99.86 1 ITGA6 99.78 1 ITGB4 99.99 1 ITPR2 99.13 1 JUP 99.94 1 KCNH1 99.92 1 KCTD1 99.99 1 KDF1 99.86 1 KDSR 99.99 1 KEAP1 100.00 1 KIT 99.86 1 KITLG 99.46 1 KLHL24 99.90 1 KRAS 99.13 1 KREMEN1 99.88 1 KRT1 99.89 1 KRT10 100.00 1 KRT13 99.98 1 KRT14 99.99 1 KRT16 100.00 1 KRT17 100.00 1 KRT2 99.88 1 KRT3 99.89 1 KRT5 99.98 1 KRT6A 100.00 1 KRT6B 99.95 1 KRT6C 96.59 1 KRT7 99.87 1 KRT74 99.92 1 KRT83 100.00 1 KRT85 99.97 1 KRT9 100.00 1 LAMA4 99.90 1 LAMB3 99.99 1 LAMC2 99.54 1 LBR 99.66 1 LIPH 99.99 1 LIPN 99.94 1 LMNA 99.96 1 LMNB2 99.99 1 LORICRIN 100.00 1 LPAR6 99.99 1 LRMDA 99.87 1 LRP1 99.94 1 LYST 99.87 1 LZTR1 99.46 1 MBTPS2 99.81 1 MC1R 100.00 1 MC2R 100.00 1 MC4R 100.00 1 MCM4 99.96 1 MEN1 99.98 1 MITF 99.98 1 MLPH 100.00 1 MMP1 99.99 1 MPDU1 99.97 1 MPLKIP 99.99 1 MSX1 100.00 1 MYO5A 99.94 1 NECTIN1 99.99 1 NECTIN4 99.97 1 NF1 99.88 1 NFKBIA 99.99 1 NIPAL4 100.00 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NNT 99.87 1 NOP10 99.99 1 NOTCH1 99.98 1 NR5A1 99.92 1 NRAS 99.66 1 NSDHL 99.87 1 OCA2 99.60 1 OSMR 99.95 1 PADI3 99.35 1 PAX3 100.00 1 PAX6 99.95 1 PDGFRB 99.99 1 PEPD 99.98 1 PEX7 99.72 1 PGM3 99.94 1 PHGDH 99.79 1 PHYH 100.00 1 PIEZO1 99.98 1 PIGL 99.98 1 PIGT 99.95 1 PKP1 99.98 1 PLCD1 99.98 1 PLCG2 99.99 1 PLEC 100.00 1 PMVK 99.60 1 PNPLA1 99.98 1 PNPLA2 100.00 1 PNPLA6 99.99 1 POFUT1 100.00 1 POGLUT1 99.99 1 POLA1 99.57 1 POLH 99.85 1 POMC 99.99 1 NT5C3A 99.95 1 PORCN 99.93 1 HCRT 99.85 1 PRKCD 99.96 1 PRKD1 99.96 1 PSAT1 99.98 1 PSENEN 100.00 1 PSMB8 99.96 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTPRF 99.92 1 RAB27A 99.94 1 RAD50 99.75 1 RAF1 99.97 1 RAG1 100.00 1 RAG2 100.00 1 RBM28 99.99 1 RBPJ 99.96 1 RECQL4 100.00 1 RET 99.97 1 RHBDF2 99.95 1 RIN2 99.99 1 RIT1 99.78 1 RMRP 100.00 1 RSPO1 99.99 1 SCN9A 99.83 1 SDR9C7 99.99 1 SERPINB7 99.93 1 SERPINB8 99.98 1 SERPING1 100.00 1 SGPL1 99.95 1 SHOC2 99.96 1 SLC24A5 99.99 1 SLC27A4 100.00 1 SLC29A3 99.98 1 SLC39A4 100.00 1 SLC45A2 100.00 1 SLURP1 100.00 1 SMARCA2 99.95 1 SMARCAD1 99.86 1 SNAI2 100.00 1 SNAP29 99.85 1 SNRPE 99.26 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX18 100.00 1 SPINK5 99.91 1 SPINT1 100.00 1 SPRED1 99.99 1 SRD5A3 99.94 1 ST14 100.00 1 ST3GAL5 99.96 1 STAT3 99.97 1 STIM1 99.99 1 STK11 100.00 1 STS 99.81 1 SULT2B1 99.92 1 SUMF1 99.95 1 TAT 99.99 1 TCHH 99.94 1 TERC 98.59 1 TGM1 99.82 1 TGM3 100.00 1 TGM5 100.00 1 TINF2 100.00 1 TP63 99.97 1 TRPM1 99.96 1 TRPS1 100.00 1 TRPV3 99.90 1 TWIST2 100.00 1 TXNRD2 99.97 1 TYRP1 99.97 1 UBR1 99.93 1 UROD 99.32 1 UROS 100.00 1 USB1 89.62 1 VCX 96.04 1 VCX3A 85.19 1 WDR19 99.80 1 WDR35 99.92 1 WNT10A 100.00 1 XPA 99.68 1 XPC 99.98 1 ZMPSTE24 98.70 1