SNPMiner Trials by Shray Alag


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Report for Mutation P23H

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 A Prospective, Multicenter, Longitudinal, Observational Natural History Study to Evaluate Disease Progression in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) With Misfolded Rod Opsin Mutations

The purpose of this study is to gain an understanding of how adRP progresses over time in patients with misfolded rod opsin mutations.

NCT02926092 Retinitis Pigmentosa Diagnostic Test: Observation
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

The subject has 1 documented pre-specified heterozygous rhodopsin gene (RHO) mutation confirmed by genetic testing (mutations will include P23H, T17M, and R135W). --- P23H ---

Primary Outcomes

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations using ellipsoid zone (EZ) area measurements

Time: Baseline to 4 years

Secondary Outcomes

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by EZ width

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by visual fields (kinetic and static)

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by dark-adapted rod visual fields

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by electroretinography (ERG): dark- and light-adapted

Time: Baseline to 4 years

Measure: Progression of disease over time in adRP patients with misfolded rod opsin mutations as measured by best corrected visual acuity (BCVA)

Time: Baseline to 4 years

Measure: Vision-related function and quality of life as measured by 25-item National Eye Institute Visual Function Questionnaire (NEI VFQ-25) plus its additional items

Time: Baseline to 4 years

2 Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein)

This research study is being done to learn what effect 12 months of treatment with oral hydroxychloroquine (HCQ) will have on the retina in people with retinitis pigmentosa (RP). The hypothesis is that treatment with HCQ is safe and tolerable in patients with autosomal dominant retinitis pigmentosa (adRP) caused by P23H-RHO, and may arrest progression of retinal degeneration by altering the autophagy pathway in photoreceptors. Participants that meet eligibility and agree to the study will be asked to take the study medication (HCQ) for 12 months and have evaluations for up to approximately 18 months from the baseline visit. There will be a total of 6 visits (1 is a phone visit) and will include general examinations, blood work, electrocardiograms, along with special testing of the retina.

NCT04120883 Retinitis Pigmentosa Drug: Hydroxychloroquine lower dose Drug: Hydroxychloroquine higher dose
MeSH:Retinitis Retinitis Pigmentosa
HPO:Cone/cone-rod dystrophy Pigmentary retinopathy Rod-cone dystrophy

Oral Hydroxychloroquine for Retinitis Pigmentosa Caused by P23H-RHO (Substitution of Proline to Histidine at Codon 23 of the Rhodopsin Protein). --- P23H ---

Oral Hydroxychloroquine (HCQ) for Retinitis Pigmentosa Caused by P23H- Rhodopsin (RHO) This research study is being done to learn what effect 12 months of treatment with oral hydroxychloroquine (HCQ) will have on the retina in people with retinitis pigmentosa (RP). --- P23H ---

The hypothesis is that treatment with HCQ is safe and tolerable in patients with autosomal dominant retinitis pigmentosa (adRP) caused by P23H-RHO, and may arrest progression of retinal degeneration by altering the autophagy pathway in photoreceptors. --- P23H ---

Inclusion Criteria: - Stated willingness to comply with all study procedures and availability for the duration of the study - Signed and dated informed consent form - Early Treatment Diabetic Retinopathy Study Best Corrected Visual Acuity (ETDRS BCVA) of 20 letters (approximately 20/400 Snellen) or better in at least one eye - Clinical diagnosis of autosomal dominant retinitis pigmentosa - Confirmed to have one copy of the P23H-RHO pathogenic variant by genetic testing at a Clinical Laboratory Improvement Amendments (CLIA)-certified laboratory - Clarity of ocular media and adequate pupillary dilation to allow for adequate clinical ocular examination and retinal imaging - Ability to perform testing required by the study as determined by the investigator - Ability to take oral medication (medication tablets must be swallowed whole) and be willing to adhere to the daily medication regimen - For females of reproductive potential: use of highly effective contraception beginning no later than 1 week after the first screening visit, and agreement to use such a method during study participation and through the end of the washout period (6 months after the end of HCQ administration) - Agreement to adhere to Lifestyle Considerations throughout study duration (take the study drug with meals, avoid taking over-the-counter antacids or kaolin-containing products 4 hours before or after taking the study drug) Exclusion Criteria: - Use of any other drugs which are known to prolong the QT interval - Concurrent use of any of the following drugs, if the drug cannot be discontinued or substituted: digoxin, antiepileptic medications, cimetidine, methotrexate, cyclosporine, praziquantel, ampicillin - Current or previous use of tamoxifen - Pregnancy or lactation - Known allergy or hypersensitivity to hydroxychloroquine or any other 4-aminoquinoline drugs (chloroquine, amodiaquine, mefloquine, quinacrine, etc.), or known history of glucose-6-phosphate dehydrogenase deficiency - Treatment with another investigational medical intervention for retinitis pigmentosa within 3 months, or any ever previous treatment with an investigational surgical intervention - Any pre-existing cardiac, renal, hepatic, or hematologic disease, any prior history of psoriasis or porphyria, or any alcoholism - Abnormal screening laboratory values including aspartate transaminase (AST) or alanine transaminase (ALT) > 2.0 x upper limit of normal, subnormal glomerular filtration rate (< 90 mL/min/1.73m2) --- P23H ---

Primary Outcomes

Description: These will be performed at: screening, baseline, 4 months, 12 months, and 18 months

Measure: Change in Ellipsoid zone area measured by Spectral-Domain Optical Coherence Tomography (SD-OCT)

Time: screening up to 18 months

Description: These will be performed at: screening, baseline, 4 months, 12 months, and 18 months

Measure: Change in Retinal sensitivity (decibels) measured by scotopic and mesopic microperimetry

Time: screening up to 18 months

3 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene

This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. Single injections will be assessed in an open label way, and repeat injections will be assessed in a double-masked, randomized, sham-controlled fashion.

NCT04123626 Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Drug: QR-1123 Other: Sham procedure
MeSH:Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases
HPO:Abnormal retinal morphology Abnormality of the eye Cone/cone-rod dystrophy Hemeralopia Metamorphopsia Pigmentary retinopathy Retinal dystrophy Retinopathy Rod-cone dystrophy Visual impairment

A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene. --- P23H ---

A Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa Due to the P23H Mutation in the RHO Gene This study evaluates the safety, tolerability and efficacy of QR-1123 injection in the eye (intravitreal; IVT) injections (one eye/unilateral) in subjects receiving a single dose or repeat doses. --- P23H ---

4. A molecular diagnosis of autosomal dominant form of RP with the P23H mutation in the RHO gene, based on genetic analysis. --- P23H ---

Main Exclusion Criteria: 1. Presence of additional pathogenic mutations in genes (other than the P23H mutation in the RHO gene) associated with inherited retinal degenerative diseases or syndromes, based on genetic analysis (eg, Usher syndrome, Leber's congenital amaurosis, etc). --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. --- P23H ---

Autosomal Dominant Retinitis Pigmentosa Eye Diseases Eye Diseases, Hereditary Retinal Dystrophies Retinal Disease Retinitis Vision Tunnel Vision Disorders Vision Disorders Retinitis Retinitis Pigmentosa Retinal Diseases Retinal Dystrophies Eye Diseases, Hereditary Genetic Diseases, Inborn Eye Diseases QR-1123 is an antisense oligonucleotide, designed to specifically target the mutant P23H messenger ribonucleic acid (mRNA) in order to reduce the expression of the P23H protein selectively, while preserving expression of the wild type (WT) rhodopsin (RHO) protein. --- P23H --- --- P23H ---

It is hypothesized that the reduction of mutant P23H mRNA will reduce the deleterious effects of the dominant-negative protein and should result in increased function of WT rhodopsin protein in photoreceptors. --- P23H ---

Restoration of WT RHO function is expected to improve vision in patients with adRP due to the P23H mutation. --- P23H ---

Primary Outcomes

Description: Incidence and severity of ocular adverse events scored based on CTCAC in the study and fellow eye

Measure: Incidence and Severity of ocular AEs

Time: up to 12 months

Description: Incidence and severity of non-ocular adverse events scored based on CTCAC in the study and fellow eye

Measure: Incidence and Severity of non-ocular AEs

Time: up to 12 months

Secondary Outcomes

Description: Changes in Best corrected visual acuity (BCVA)

Measure: Changes in BCVA

Time: up to 12 months

Description: Changes in Low-luminance visual acuity (LLVA)

Measure: Changes in LLVA

Time: up to 12 months

Description: Changes in Dark adapted chromatic (DAC) perimetry

Measure: Changes in DAC perimetry

Time: up to 12 months

Description: Changes in Static VF (Visual Field)

Measure: Changes in Static VF

Time: up to 12 months

Description: Changes in Microperimetry

Measure: Changes in Microperimetry

Time: up to 12 months

Description: Changes in Spectral Domain-Optical Coherence Tomography

Measure: Changes in SD-OCT

Time: up to 12 months

Description: Changes in Full-field Stimulus Threshold (FST)

Measure: Changes in FST

Time: up to 12 months

Description: Changes in Full-field Electroretinogram (ERG)

Measure: Changes in Full-field ERG

Time: up to 12 months

Description: Changes in Fundus Autofluorescence (FAF)

Measure: Changes in FAF

Time: up to 12 months

Description: Changes in Contrast sensitivity

Measure: Changes in Contrast sensitivity

Time: up to 12 months

Description: Changes in Color vision

Measure: Changes in Color vision

Time: up to 12 months

Description: Serum levels of QR-1123

Measure: Assessment of systemic exposure after treatment with QR-1123

Time: up to 12 months


HPO Nodes


HP:0000556: Retinal dystrophy
Genes 378
RHO RAX2 SRD5A3 PEX5 MYO6 CSPP1 CTSD PHYH SEMA4A LRAT PMM2 CDH23 PDZD7 CEP41 ATXN7 MKS1 HACE1 PEX6 IQCB1 MYO7A PRPH2 CEP290 CDHR1 RPGRIP1 RHO PRPF6 FKTN RP1 KCNV2 MERTK RDH11 B4GAT1 PROM1 IQCB1 IFT27 ROM1 PROM1 LARGE1 CACNA2D4 RDH11 KIF5A PEX2 CERKL UBE3B RPGR PDE6A DAG1 AIPL1 PDE6G CEP164 PRPF4 ND4 CDH3 TRNT1 RNU4ATAC NR2E3 FGFR2 ARL6 CABP4 PEX10 CA4 PEX1 TRNL1 ROM1 RP9 CC2D2A CEP290 GATA3 ATP6 INPP5E CEP290 PRPH2 RDH5 PEX16 PEX19 MKS1 TOPORS BBS4 PCYT1A MAK TRNK KIAA0586 REEP6 MFRP GPR179 TUB RLBP1 KIF11 EXOSC2 RAB28 NPHP1 POMK IDH3B PGK1 RGR BBS2 PRPH2 AHR WDR19 PEX2 GUCY2D ACO2 CRPPA PRPF8 VPS13B USH2A BBS9 ABHD12 HSPD1 CRX PEX7 ITM2B BBS10 USH2A SH2B1 TRAPPC9 SIX6 PRPH2 SLC35A2 NYX BBS1 TIMP3 ZNF408 SDCCAG8 SNRNP200 WHRN ATXN2 GUCA1A APOB SLC19A2 IFT74 DAG1 NPHP3 TMEM216 MKKS ND3 PGK1 ACOX1 SYCE1 NDUFB11 KIZ SEMA4A SDCCAG8 RPGRIP1L PDE6G PROM1 CHST6 COL4A1 RBP3 CC2D2A MDH2 LAMA1 COX7B TMEM138 CEP41 AP3B2 RPL10 MYO5A CDH3 INVS INPP5E TMEM216 TRNK RPGR RPGR WDR19 ALMS1 ELOVL4 CRX IMPG2 TMEM67 CNNM4 RIMS1 TMEM67 PDE6B PDE6H LRIT3 COQ2 HGSNAT CEP290 ADGRV1 IMPG1 DHDDS RP2 NGLY1 PRPF3 TRNL1 PEX7 NDUFA9 TTC8 TMEM237 POC1B BBS12 GNAT1 OFD1 NEK1 ARL6 AIPL1 CLN3 CFAP410 PEX10 BEST1 RBP4 CCDC28B PDE6C BBS7 BMP4 NRL IFT122 RDH12 TUBGCP6 ZNF513 PEX6 CNGB1 ND1 POMGNT1 HACE1 GRN ANK1 CNGA1 PEX13 RNF113A DRAM2 GNAT1 FKRP PEX11B ND6 FSCN2 ALMS1 RCBTB1 POMT1 CFAP410 BBS2 TULP1 MFSD8 OTX2 PPP2R3C BBIP1 ND2 CLRN1 MVK PRPS1 CWC27 ND5 RHO NPHP4 LRP2 OFD1 POMT1 FDXR LRP2 CRB1 PEX1 IFT140 IMPDH1 RNU4ATAC KLHL7 SAG CEP120 BCS1L IFT172 CIB2 ABCA4 PRPF31 GRM6 HMX1 TRAF3IP1 MAPKAPK3 SLC24A1 TTC8 PNPLA6 KLHL7 LZTFL1 AHI1 RXYLT1 CRYAB CLRN1 ARL2BP ATP6 CNGA1 FLVCR1 PEX14 HCCS PEX26 INPP5E EXOSC3 WARS2 C8ORF37 ZNF423 RLBP1 NPHP1 HGSNAT RNF216 TELO2 PEX26 FLVCR1 TRAF3IP1 ARL3 ARL6 LAMA1 PMM2 ARV1 DNAJC21 EYS POGZ GGCX GRK1 BBS5 C1QTNF5 PCYT1A PRPS1 CACNA1F RBP3 SLC7A14 ABCA4 PCDH15 PEX1 NPHP4 SAG USH1C TULP1 VPS13B PDZD7 PCARE POMGNT2 RLBP1 ATP6 USH1G AHI1 TRNV RP1L1 TRNE CLRN1 C8ORF37 TTLL5 CDH3 PANK2 POMT2 PNPLA6 BMP4 PRCD TRPM1 LRAT RPE65 CLDN19 SLC19A2 TMEM138 PEX12 PCDH15 PEX16 DHX38 NEK2 PDE6B USH1C PANK2 CCNQ PITPNM3 IMPG2 POGZ WDR19 B3GALNT2 CACNA1F FAM161A CEP290 TMEM231 EFEMP1 PGAP1 WDR34 EP300 GUCA1B BEST1 ARMC9 ADAM9 PEX3 C8ORF37 PEX12 CREBBP TRNW
Protein Mutations 1
P23H
SNP 0
HP:0000478: Abnormality of the eye
Genes 5067
SMC1A FUS WHCR COL13A1 CTC1 FA2H ABCA12 NAA10 TET2 SYNJ1 NUP133 FBN2 FAM126A ST3GAL5 IGBP1 NAA10 WNT10B KRT25 FAR1 CRYBA4 C12ORF65 PAH ZNF423 CHRND EXT2 NOD2 PRRT2 ABCC8 ZC3H14 ZNF469 SETD5 IGSF3 PSMD12 BCL10 PROM1 C8ORF37 TUBB3 FGF17 HESX1 CCDC141 PACS1 EEF2 TMEM98 KCNJ2 MYO5A GCDH ADGRG6 HADHA MAFB KIF7 B3GALNT2 RECQL4 ATP6 MAP2K1 CDH23 PTCH2 ERAP1 CLTCL1 POLG GATA4 CYB5R3 PRPH2 NDST1 GGCX NDUFV1 ND4L CSF1R IL17RA TGFB3 KCTD1 TUB PRMT7 CCDC88A NDUFS1 MBTPS2 PRKCG ABCA4 FKRP VPS13B OPTN GSC WDR36 RAP1B EIF2AK3 EFEMP2 TRNS1 ACTA1 CCDC39 ROBO3 VAMP1 POMGNT2 PRPF6 GUCA1A SHOC2 SDHA CNGA1 MICU1 CHMP4B ACTG1 SMG9 PROK2 GNE SLC3A1 XRCC2 TEK LARP7 ARHGEF18 AGBL1 SLC29A3 EVC STAMBP PRPF3 CST6 NLRP1 CPLX1 SZT2 KDM5B BIN1 MLH1 FMR1 CLP1 POLG ERLIN2 TMEM67 COLEC11 CHRND TIMM8A FGFR3 CHRNE GNAT2 BEST1 RYR1 KCNMA1 SLC26A2 FGF10 H19 PTEN MPL UROC1 ELOVL4 RPGRIP1 MAPRE2 STAT3 FBN1 SSR4 SLC2A1 KRT6B FBN1 HGSNAT AP5Z1 CDK4 SDHC SYNE1 ZBTB18 HERC1 SLC9A6 PLA2G6 LDLRAP1 IGF1 BBS12 LDHD ERCC2 ACVRL1 THOC2 MFF ANKRD11 SQSTM1 PIGS CDK5RAP2 TEK WDR48 USP9X CIB2 GLRX5 TUBGCP6 FAM20C EZH2 HLA-DPA1 CHCHD10 PAX2 FLNA SNORD115-1 AP4E1 GCH1 TMEM240 PRPS1 P4HB ECHS1 BBS1 FOXE3 CFAP410 PAX6 GABRD COL6A3 MAN2B1 GRID2 ACSL4 FAR1 CWC27 FGFR1 PITX2 LAMC3 MVK PEX16 PROS1 CPLANE1 JAK2 STK36 C8ORF37 ASPA CCDC22 INSR SPG7 PDGFRB TSFM LCA5 SOX2 ALDH6A1 GATA1 ZBTB24 GJB1 GATA4 POR NDUFS2 HRAS TGFB3 WDR19 GLI3 TGFBI ASXL1 COL7A1 WDR73 HSD11B2 TBX1 ABCA1 IFT140 ITGB3 FGFR1 ND5 SDHD PEX3 COPB2 COL6A1 CNBP ATAD3A XRCC1 ERCC2 RPGRIP1L ABCA4 ADAT3 MAGEL2 DNAAF5 GBA CEP57 TULP1 FGF20 PEX12 COL1A2 FOXA2 EFNB1 ACOX2 DIAPH1 LOXL3 ERLIN2 STIM1 MTOR C1QTNF5 ALOX12B ERCC4 DEAF1 KBTBD13 NSUN2 NSDHL GUCA1A ND5 PANK2 HDAC8 CRYGD PEPD CNTN2 LEMD3 TRAPPC12 TGFB1 PEX26 CACNA1G SLC18A3 PIGA KCNJ6 VCP SLC17A5 COL12A1 ORAI1 GATA6 TKT COL11A1 ARHGAP31 KIFBP CIT SLC19A2 NSUN2 PROK2 PLXND1 MCIDAS PEX1 CLDN19 SRC PRF1 PHGDH PGAP1 SYT1 ALOXE3 SLC39A8 ALG3 AGRN PROM1 ANKRD11 GUCA1B ZFP57 SOST ARMC9 NDUFA10 TRNC MIF GABRA2 DNAJB13 CLCN7 SALL4 TRAPPC11 NDUFS1 TRAF3IP2 SLC18A2 ALDH18A1 FBN2 STAT4 ACTA1 CEP290 SOST SLC4A4 LETM1 SMC3 POLG TBCE ZBTB24 GLI2 PLCB4 COL4A5 PPP3CA DNMT1 TWIST2 TENM3 VAX1 SRCAP SHROOM4 TBX4 KIF11 OCA2 SETX TACO1 COL7A1 ELOVL4 KRT74 RNASEH2B SPAG1 ARL2BP NDUFA9 NDUFS2 ATXN2 TSEN15 GSS ZBTB20 MFN2 KCNJ13 RPGRIP1 SCN2A LMNA EPG5 PLPBP COL18A1 PEX10 IQCB1 FREM1 ASCL1 ZNHIT3 COX20 PRPH2 COL2A1 HUWE1 TRAPPC11 BPTF ARSA RBM10 ARX OCLN SLC52A3 SCN9A RRM2B FAM126A TPI1 CLPB GUCY2D TBX1 PIK3C2A STAT6 GALNT3 SLC35A1 SH2B1 C19ORF12 CHRNG HS6ST2 ARCN1 FGFR1 ATP1A2 ARNT2 COL2A1 TRIM32 SDHC POMGNT1 NDUFV1 HTRA2 SEC23B PYROXD1 SPRY4 SLC39A5 LYST SETD5 POMGNT1 WDR19 TUBB2B SIK1 CHP1 NRXN1 FGFR1 KIAA1549 GFM1 CNBP HLA-B ADAMTS10 TBCE NOTCH2 TUBA8 UNC80 DACT1 WDR4 FKBP10 MYO7A MC1R LMBR1 CBL C1QBP COL4A1 GAS1 MBTPS2 SOX10 GTF2E2 PLG NMNAT1 EIF2AK3 CASK GNAI3 TRAPPC11 CRYAB BMPR1A RD3 TPM2 GALC KDSR SLC25A19 CSPP1 BBS12 RPGR RNASEH1 TRIP13 CILK1 IL23R CHM ND6 SLC52A2 NEK2 FOXC2 ACTA1 CERKL FLNA ADNP MTAP FANCA WDR45B MSH6 TTBK2 NDUFA13 SAMD9 TGFBI POU6F2 PGAP1 TTC8 MIR204 TONSL NSD2 BRAF PIK3CA TTLL5 ATP6V1A CAMK2G GPR143 TRNP RBP4 SDHAF1 RBM8A AIMP1 HELLS RAF1 ATCAY NDN TERT KCNQ3 HESX1 TRIP13 UBR1 PEX13 ELOVL4 SMCHD1 CPAMD8 MYLK CDKL5 MKS1 RARS2 CRYGS NXN PPP2R3C PRPF31 MYORG MAF ALG1 MC1R B3GALNT2 ND5 ATP6V1E1 ARX LRP2 CD79B GJA1 GTF2I CRB1 PLOD3 PHOX2A RTN4IP1 TMEM237 SLC17A5 CIB2 SYNGAP1 PRPH2 ADAMTS18 GUSB TRAF3IP1 SLX4 TNFRSF13B CRB1 KLHL7 ADAR KCNN3 DKC1 KIAA0556 CRBN TCOF1 ALG12 APOE SCO1 PTH1R PROM1 SLC26A2 CR2 VPS11 INPP5E SRCAP KIDINS220 PNPT1 HELLS ATXN3 TXN2 SMAD3 WDR26 APOE AK9 FANCI IFT122 STT3B ATOH7 KIF1A MUTYH TRAF3IP1 TRIO LAMA2 MMP1 CEP152 LRP4 TTC8 FTL DHX30 TUBGCP4 KIF5A SCN4A FIG4 LRRC8A WWOX RBP3 COL9A3 UGT1A1 FKRP GPC3 RET TPM3 XYLT1 PEX16 LTBP2 ATP6 PLCG2 CHRNA1 OSGEP COL1A2 TRNE MAPRE2 LRRC6 TTLL5 DICER1 CTU2 OTX2 DDHD2 HYLS1 HRAS SLC25A4 ARL3 NLRP3 NONO TELO2 APOB NUP107 MLH3 OPA3 OAT TMEM231 EFEMP1 AHI1 CHN1 CLPB GDNF TRPV4 GBA MYOD1 ARL6IP6 RERE SLC36A2 ACER3 TERT LAGE3 SPTBN4 ERCC6 ARSG COL2A1 LMNA RYR1 BBS10 HGSNAT SLC20A2 ATRX NXN NOTCH3 PLEC CYTB HLA-A WWOX HTT MFRP RPGR TAZ CRB1 ALX3 TUBB4B CACNA2D4 BEST1 SLC25A1 FSCN2 GABRD LDLR ND4 MYO18B ERCC6 COX3 ROM1 RNU12 SIX3 FMR1 ATIC MKS1 EDN3 CTSH TBK1 SLC6A9 FLNA RAF1 WT1 C12ORF65 EXOC6B ATF6 RIPK4 HSD17B10 FTL GNAS ANKH SARDH DOK7 TCF4 C12ORF57 SLC39A13 MFRP MMP19 GPR179 CYTB POMK DNAI1 TAC3 SMARCA4 TWIST1 AKT1 RSPH3 GFER NAB2 SH3TC2 ABHD12 FAM149B1 ITM2B CACNA1F ARL3 C12ORF65 CDKN1C SAG GDAP2 RYR1 GRM1 KIAA0586 FGF8 RIT1 PHIP ARID2 GDF3 ADRA2B MERTK HNRNPA2B1 UCHL1 CACNA1A PHF6 DIS3L2 SOX10 IQSEC2 PGAP3 CTNS RSPRY1 LMNA NDP LONP1 PAX4 COL7A1 FGFR2 VPS35 TRIM8 DPYD CC2D2A TWIST2 KCNA1 SLITRK6 EGR2 ND6 CFI ATXN3 KCNJ18 FANCE SDHD EPHA2 DUX4 LRP5 ACO2 ALX4 MKS1 AMACR TWIST1 PEX26 TSC1 BCL11A KRT17 NDUFS2 ABCA1 MYO5A HDAC8 TMEM38B NAGA ARID1A SMCHD1 DHDDS TYRP1 COX7B PEX7 NF2 KCNC3 TFAP2B KRT10 DDX59 ARL6 OPN1LW BEST1 FGFR2 RDH12 BIRC3 WDR73 PDE6B GLB1 CNGA3 GRIA3 NAXD TGM6 GLA SPEG TUBA3D YARS2 SHOC2 ND6 PHGDH GBA AKT1 SKI SLC5A7 COMT ATP6 MVK ATXN8 NT5C2 NAA10 MKKS ANKH WAS NFKB2 SELENOI ROM1 SOX10 PTEN TGFBR2 POMT1 MMP14 FGFR2 POLG PIGY ND2 RAB3GAP2 DDOST COX1 ALG8 ANGPTL6 DHPS REST RXYLT1 SACS MAFB MOCS2 ND4 ZC4H2 PCNA SDHD TMEM126A GAS2L2 NMNAT1 ZNF423 MED25 SLC2A1 TRNQ CNKSR2 FANCB CDK13 GJB6 TGFB1 PAX6 RPS6KA3 USF3 MMUT TSEN34 CRYBB2 ARV1 OPA1 H19-ICR PLEKHG2 L1CAM ADGRG1 FLRT1 EPHX2 DHX38 PET100 PLK4 TCTN2 ABCA4 MTMR14 SCN9A EMC1 MPDU1 GATA5 TMEM237 USH1C ERCC2 PDZD7 PCARE DPP6 ERCC5 IL2RB DMPK RLBP1 IFT140 WASHC5 SLC18A3 GDF6 CDH3 AARS1 TREX1 PMPCB GTPBP3 MUSK GSN TMEM67 TERC CHMP1A TRNN MME NDUFV1 PTPN11 CTNND1 SMARCB1 GJB2 SEM1 MYL2 CACNA1F CTLA4 RARB ALDH18A1 HLA-DQB1 IFIH1 SLC25A22 PPT1 HLA-B IFT88 SCN4A LSS ZNF335 SDHD NEDD4L ARID1A ARSG IFT140 TWIST1 EPAS1 SPECC1L DRAM2 NDP PHYH GALT BBS7 HEXA PUM1 ACTA1 RDH12 SUFU ABCD4 IRF2BPL FOXE3 IDUA CLCN7 GDF1 MYO7A IDH3A EFNB1 PIGT LMNA JAG1 PRMT7 FGFR3 ELN RHO CLN8 INSR SLC12A3 PRDX1 MIP ST3GAL3 PROM1 BRAT1 FBN1 LIMK1 SNCA PAX2 RPGR ND5 WDR19 CEP164 TRNT1 ARL6 NADK2 TRNF TGIF1 LRP4 NPHP1 TSHR INPP5E KIZ RGS9 CDC45 ERCC1 MEIS2 CPLANE1 PCDH12 CYP7B1 COX3 TOPORS ALG11 ST14 ATXN10 FKTN ITPR1 PRKAR1A MMP1 ADAMTSL1 ALG3 ATP7B RGR PNKD TGFBR1 OFD1 TMCO1 HIRA REV3L CHRND LRIT3 CEP250 KCNA4 GLE1 SLC35A2 KIF7 SYNE1 HARS1 KMT2D ATXN2 POLG EDN3 RAD50 KRAS CHD4 OPN1MW ANTXR1 POC1B PLA2G6 LARGE1 EIF2B2 GHR AHDC1 MED23 XYLT2 WDR45 CTNS BMPER GJA5 SLC30A9 SDCCAG8 AUTS2 ELN RLIM PANK2 FGFR3 LEMD2 UBA5 FGFR1 IL11RA ZFHX2 POLR1C SIK3 AGL PLK4 WDR19 PBX1 SCN3A SLC45A2 PEX2 WDR81 DNMT3B PIK3CA TTC21B LRIT3 PTDSS1 ITGA7 COQ2 DNM1L MPZ HNRNPU BTK LPAR6 TMEM106B KIAA0753 TBX2 NDUFA9 MAT2A OFD1 SOS2 KRT6A CCDC174 CACNA1H TBC1D7 RRAS2 ADAR CFAP410 COL3A1 RHO BRF1 FGFR1 OSMR CYTB NR2E3 DEGS1 GJB2 PAX1 PIK3R1 SLC45A1 GPRASP2 LRP1 GJB6 GATA6 CD247 CANT1 FKRP ETHE1 TREM2 TLK2 PMS2 RCBTB1 SOX10 PIGV EIF2B1 TSC2 ATR MORC2 LETM1 PAX6 NDUFS4 ETHE1 TGM3 NPHP4 CFH DYNC2LI1 TP53 SNAP29 RAD51C MYMK NTRK1 FBXO31 VPS13D P4HTM CEP120 KLHL41 FH SOS2 BCOR FAM111A MYD88 STIM1 JAG1 HMX1 TMEM70 APOE IFT81 DAB1 SCN9A PNPLA6 MRE11 GNAQ CDH11 NRL NSD1 HPS3 NDUFA2 GATA2 EPS15L1 FLVCR1 BBS4 PLEKHM1 BAP1 CFAP221 B3GALT6 PABPN1 COL13A1 NEB EARS2 USP45 AP1S1 PWAR1 SCN9A DNM2 YEATS2 RAX2 ATCAY ADK KCNQ1OT1 POGZ TACSTD2 PAX6 FRG1 CACNA1F TPRKB GPR161 MICU1 SLC29A3 NDUFV2 GNB5 ABCC6 SETBP1 NDUFS8 KRAS OPHN1 ADAMTSL4 PAX6 SPTBN2 NOP10 MSH2 FBN1 NEXMIF PDP1 TMEM138 CCM2 LTBP2 SDHA MBTPS2 SYT2 HNRNPK SCN1A EDNRB TWIST2 FZD4 CRYGD B3GALNT2 FOXP1 SYT1 GRIN2D FTL FLNA NF2 MYH3 BMP2 FOXC1 CISD2 SMAD4 WDR11 RUBCN PCDH15 ATP1A3 SMS GNAQ SDHD CREBBP FBLN1 IFIH1 ETFB PEX19 GUCY2D PHYH IFT52 SRD5A3 CACNA1F IFT52 KIAA0586 EPG5 CSPP1 SARS1 TRAF3IP2 PORCN FMN2 ERCC4 TGFB2 PYCR2 GJA8 ENTPD1 PEX1 KCTD1 PTH MLX COX3 B9D1 SLC12A6 TCTN3 CENPJ INSR MAP2K2 SKIV2L NKX3-2 TTC37 MITF IARS2 POLG KCNB1 SPART BRAF SCN4A PEX11B PDE6H DOCK6 SHH VPS33A TTBK2 TRNL1 PNPO TINF2 CERKL PIKFYVE ALG6 DAG1 TRAPPC6B EBP TCTN3 GM2A PDCD10 DNMT3A ROM1 GBA AIP ALKBH8 NEFL TACO1 AGA RPS20 BMPR1A ACVR1 NDUFB11 MTRR RNU4ATAC LCAT FLNB NR2F1 SLC19A3 PEX11B B2M ND1 MAP2K2 DOCK6 PIK3CA NFIX BBS2 POMT2 ELP1 SETD2 INS MEN1 COL4A1 LIPH HFE FASTKD2 GCH1 FGFR3 BRCA1 SNAP25 ZIC1 COL9A1 TRAPPC9 POLR1C RPE65 ATXN3 PDX1 VSX2 OTX2 PPIB FGF3 PDSS1 NDUFA11 RGS9BP MTM1 TBC1D23 TSHR MARS2 HLA-DQB1 TUBB SLC24A1 COG8 ND1 SLC7A14 BCL11B NDP GJB1 FCSK RPGRIP1L CC2D1A WDR60 ATP5F1A CDHR1 SNAI2 LMX1B MYOC MAF LAMA1 NSD1 FLCN DLX6 ADAM22 TBR1 IPW DARS2 TMEM107 INS MEFV TRNK NCAPG2 CCBE1 TMEM216 AVP CA2 WASHC4 RAG1 PIK3R2 MITF NEK1 FGFR1 COL2A1 PEX7 PDGFRB TRNS2 FBN1 CENPF ERCC3 POMT1 POLG2 SCAPER SEC24C RAB3GAP2 NUP62 ALG13 MPDU1 APOA1 B3GLCT NF1 NF1 LTBP2 AGK MPC1 POLG LRP4 ADAMTS3 KRT16 POC1B NDRG1 KCNH1 FANCC PDE6C GJA1 CACNB4 ZNF469 TNFSF11 SDHA SDHB RYR1 SDHB TMEM107 BBIP1 SUOX POMGNT1 PHACTR1 CNGA1 RS1 PNPLA6 NDUFA12 MED25 CHST3 LTBP4 TGFBI EDNRA FGFR1 MTRR CRADD B3GALT6 PEX14 COQ2 SZT2 ARHGEF18 CDKL5 GNAS VPS13A PDZD7 PTPN11 TREM2 SLC1A4 DISP1 AGK LMOD3 TAP1 IFT172 MAP2K1 SMARCE1 STIM1 MAN1B1 PDE6G FIG4 BEST1 PSMB4 NOD2 ELN LRP5 GHR YWHAG PTEN WNT5A RPS7 CHEK2 PROM1 PIGP PSMD12 PEX10 FGFR2 RLBP1 DNAJC6 HMGB3 HADHB SALL4 FGF17 TELO2 TTC25 MFN2 DCC KIF1B RAB27A KIAA0586 ARL6 CASK SLC2A10 REEP6 ARV1 AFG3L2 RREB1 CTDP1 TWNK PSAT1 PURA RAF1 AIFM1 GNAT2 FANCC GCK WDR81 SYNJ1 SLC33A1 KLLN POMT2 LRP5 DDX3X RAI1 POLH SCN8A TUBGCP4 COL2A1 TOE1 SERAC1 LMAN2L GFER WRN FRMD4A ABHD5 GP1BB CYFIP2 KRAS CDKN2B CA2 CHRNB1 RPE65 PCDH15 COG5 PTPN2 POLA1 ND6 AHDC1 GJC2 TMEM231 ZEB1 HYLS1 PALB2 UBR1 C1R PRTN3 TYR GNRHR PREPL ATP7B GNRH1 FGFR2 TTC21B ENG CHAT CD109 C8ORF37 RSRC1 CRYBB2 DPAGT1 OFD1 TP63 TMEM107 ALX4 PRSS12 COL3A1 CTSD SEMA4A PTEN SMPD1 TPP1 MITF WDR35 CHD7 RAB18 PRDM16 ATXN10 CEP41 FLI1 CRPPA L2HGDH STAT3 CALR ATP6V0A2 ITCH GABRA1 PEX6 SEC24D PIK3R2 RIMS1 PRPF6 IFT43 IL1RAPL1 SYT14 GPT2 CC2D2A AFG3L2 ADD3 CACNA2D4 SCO2 PDXK KIF5A PEX2 FGFR2 BAP1 FRMD7 PSAP USP8 SLC29A3 GABRG2 HLA-DRB1 CRYGC MTR SCN8A B4GALNT1 TRNT1 GATA4 EPRS1 CHRNG SMARCAL1 SC5D SLC39A13 LCA5 BBS4 RERE NDUFS4 RPGR NDUFA1 MC1R EIF2S3 GSN FANCL GGT1 SDHB HSPD1 ATRX FUCA1 WFS1 DDOST ELMO2 CRTAP SERPING1 NSD2 SLC2A1 BFSP1 UBA1 GLRX5 FZD2 CYSLTR2 SMARCB1 RAP1A WDR11 KLF13 GBA2 PEX5 COLEC10 USB1 CACNA1A GFPT1 MKKS PSMB9 GRIK2 DARS2 NRXN1 ANOS1 OPA3 ABCB7 CHST3 KRAS MTMR14 ATP2B2 FANCI PRPH2 VSX2 CHRNA1 AP4S1 ATXN8 TOE1 POLG2 GLI2 PNPT1 TIMMDC1 GPKOW TRIT1 CEP120 PROKR2 MAP3K7 CNGA3 GTF2E2 RFT1 TCF12 NFIX USB1 TMEM67 ST3GAL5 KISS1R WDR35 COQ2 CEP290 SLC2A1 CCDC115 NGLY1 CCDC22 AGTPBP1 TRNQ KRT1 POMT1 HTT P3H2 SLC6A8 TGFB2 INTU RUNX2 RB1 MYH11 LIFR TNFSF11 BRIP1 TMEM231 PIGV SLC13A5 COL2A1 PROP1 GNAT2 PEX6 CHRNA7 PDSS2 TGIF1 CNGB3 AMMECR1 DPYD ANOS1 TRIM32 SDHAF2 GHR LRP12 SAMD9L HLA-DQB1 MGME1 APTX NACC1 RNF216 TYRP1 PREPL FANCD2 DOCK7 GNAS CYP24A1 BBS2 TULP1 OTX2 BBIP1 NHLRC2 TRIM44 FOXE3 ITGA8 POU1F1 CNGA3 AP4E1 TEK SEMA3A DCC TPRKB CRYGC TRNW PPP1CB PEX6 MYH2 SLC12A6 NGF SCN1A BCS1L TYR APC2 RSPH9 KMT2A ABCA4 PACS2 TRNH LMOD3 ATP6V1A ERCC1 ATXN7 COLEC10 PEX3 NLRC4 OXR1 RAB28 GPR35 TBX1 ATP6 TFAP2A HCCS NEB FLNB SLC6A19 HESX1 FBN1 FGF12 PIGT NPHP1 RAPSN KRT71 MEGF8 PEX13 ACTA2 ZNF644 ARL3 CAMK2A ISCA1 NLRP3 APOE TIMM8A NFIX AHI1 IL17F PCYT1A FAS TSPAN12 MRE11 NPHP4 FBN1 ATP6V1A LRP4 PROC HADH SOST RBBP8 TRAPPC2 BBS5 RLBP1 AIRE PDSS2 GTPBP3 COL2A1 RNF168 CERT1 NTRK2 GAS8 MYH8 PEX16 COL1A1 RUSC2 SOX3 USH1C TNIK MPV17 GALT SLC25A1 PITPNM3 KLF11 ALX4 WDR19 CEP290 CRKL SURF1 SALL2 MAB21L2 MYH11 USH1C LHX4 POLG ARSA DPM2 TBP NECAP1 C8ORF37 COL11A1 LAMA3 ARID1B NEK9 TARDBP PEX5 SOX5 SCARF2 CACNA1B PEX13 ESCO2 AMMECR1 CEP104 XPR1 IER3IP1 GUCA1A POMGNT1 LGI4 DDB2 EVC2 PRPH2 AHCY SOX10 IL12A LRRC56 FASLG ERCC6 PWRN1 STOX1 RYR1 MYH8 BUB1 BBS2 LARGE1 IGF1R PLAA DVL1 RP9 FGFR2 SCYL1 MYH7 SCN4A VPS13C HYDIN PSMB8 SLC2A10 IL12A-AS1 CDH1 WFS1 SURF1 GPC4 TINF2 BEAN1 EXOSC8 SUFU MKS1 GUCA1A COX10 PEX2 CEP120 GCNT2 HBA1 RAB28 VCAN NEB MTPAP KMT2A PEX3 RARS1 NEUROD2 WDR19 CYP1B1 SLC5A7 PTPN22 ZFYVE26 DCHS1 NDE1 DNMT3A PITPNM3 CERS3 SLC52A3 MOCS1 UFD1 ZBTB16 RARS1 C9ORF72 RNF135 PODXL MARS2 LRBA FBLN5 FLNB SATB2 FGFRL1 FGFR1 HGD SERPINI1 CSNK2A1 GORAB DHCR24 YAP1 CREB3L1 TPM3 SERPINH1 RBCK1 XRCC4 H1-4 TP53 IFNG HMCN1 PALB2 FAT4 MAN1B1 RPE65 TBCK C2CD3 PYCR1 TBCE WNT5A ATF6 IL2RA PTPN22 ATN1 ATP6 PRPS1 NSD1 NDUFS2 RTTN TK2 FAS ARSB DSG4 AAAS GJA8 CTNNB1 SETD5 ATP13A2 COX2 ALDH3A2 RUBCN COL11A2 PEX19 PRCD PORCN SEMA3E PITX3 TRNH EED FGF8 FREM2 COL1A1 ASXL2 CACNA1F EVC SLC25A4 CHN1 CHRNE SMARCB1 LCAT ZNF513 ASPA RPL5 GJA1 COL1A1 OCRL IDUA MMP2 ZMYND11 HBA2 MRAS SPECC1L ERCC4 METTL23 MKS1 PUS7 SAG GRM6 STAT4 GRN MAFB CSPP1 NRAS POMT1 BTD VARS2 SLC6A20 BTK AMACR GMNN ETFA ND2 RPS6KA3 SF3B1 SUFU RAC1 CLRN1 NAA10 CD19 TUBB3 CHRND SLC1A3 PAX6 RNR1 DLD DTNBP1 SUFU ASPA ANKLE2 GBA PDE6B GUCY2D LIFR TBCE FAT4 KDM5C LRP4 CLP1 SNCA DNAL1 TPM3 NUP88 ALG14 ATRX BTK KCNJ13 ABCC8 CRYAB PAX6 SLC9A7 UROS PTS PEX11B WNT10A SALL4 SDCCAG8 CDH1 CANT1 NHS NSUN2 ALPL LMNB1 ERCC5 PITX2 RSRC1 WAC ATP2B3 PPP2R5D COX10 CYBB ECEL1 JRK SMARCE1 PDGFB NDUFS1 NDUFAF2 FKRP CTNS KIF21A TBCE FOXRED1 BEAN1 EIF4G1 TAPT1 WRAP53 PANK2 DST TRPM1 SLC25A24 ELP4 LRAT RFC2 SMAD3 ERBB3 TUBB3 ERCC3 PHF6 SPINT2 PUF60 NEK2 CDH3 SYNE1 CCNQ ND6 PRKD1 TUBB6 CNGB3 MASP1 INPP5E POMT2 CCDC40 ADAMTS10 FKTN BEST1 XYLT2 PEX3 TRNL1 GNPTAB GNA11 TRNW RAX2 UBIAD1 TBX22 CTNND2 MICOS13 KRT83 SC5D LRAT PIK3R1 GJA3 SOST TNFRSF11B CFH TMEM237 SUMF1 GM2A PNPLA1 CST3 POMGNT1 MTOR KCNAB2 GUSB CHD7 BRAF ERMARD HBB ENPP1 POLG SF3B4 MAB21L1 ARID1B B4GAT1 ABCA12 PPM1D NLRP3 NAXE RIT1 HPS5 INS AIPL1 SHANK3 SLC37A4 CHRND CEP290 GJA1 ATP8 TAF1 SHPK SBF1 TOPORS DNM1L GJB3 WNT3 GNA14 STX16 OFD1 MICOS13 FGFR2 PIBF1 ESCO2 COL9A2 TCTN2 LRP5 RLBP1 SCAPER TKT ISCA2 USP45 NSMCE2 MPL TWNK MMACHC APC CRPPA HNRNPH2 ESPN SLC40A1 NCF2 DUSP6 RAI1 AFF4 GABRA1 GJC2 KREMEN1 TUBGCP6 SURF1 IBA57 FANCG TRIP4 BANF1 SIX6 BBS1 TIMP3 SH3BP2 NPHP1 CD79A POLR1D CHRND SIM1 TBCE BRIP1 RAB3GAP1 WT1 CACNA1A ELOVL4 KRIT1 ALG8 RAB3GAP2 NKX2-5 KCTD7 HGD BRAF DHCR7 BUB1B RSPH1 SEMA4A TNFRSF11B NSDHL ND1 AFG3L2 GCK ERCC2 STIM1 HSPG2 MDH2 BRPF1 TAF1 CCDC114 C12ORF65 C4A TRAPPC11 CRB1 POT1 INPP5E CA4 WDR45 TRNK NHLRC1 TTR GALNS RFC1 ABHD5 EYS RIMS1 SLC1A3 PDE6H ALG13 GNAS EHMT1 PROS1 MFAP5 GNAT1 NARS2 COQ8A KLHL41 MKS1 PRRX1 AP4B1 EDC3 FLII TMEM237 SPR TMEM43 SLC4A11 PRNP MED25 POLG CACNA1B LHX4 CCDC28B SCN1B PRNP FOXJ1 CEP290 TBX1 TLR4 SLC39A14 COG4 IFT27 PLP1 NF2 PLEC NDUFB10 NDUFAF5 COG4 ZSWIM6 VMA21 ZNF408 COL11A1 ITCH MCTP2 TCF20 CHRNE EIF2B5 NOTCH3 PRSS12 SAR1B TSC2 BRAT1 COA8 TFRC GEMIN4 NIPAL4 TCTN3 IMPG2 HSD17B4 ZNF148 ROBO1 MAPT RHO OFD1 PAX6 MARCHF6 EZH2 ARVCF ND4L CRPPA RORA TFAP2B PDGFRB RNU4ATAC POLR3A BTRC CDKL5 PCLO RS1 COL4A1 MPDZ SIX2 RNASEH2C TYMP TCF12 TBX1 COL5A1 TBX15 TYR MYOC IARS2 SEC23A RXYLT1 HHAT NLRP1 GJB6 PUF60 DHDDS BTNL2 TRNS2 HRAS HDAC4 KLHL7 SLC24A5 NMNAT1 RMRP PNPLA6 FGFR2 NLRP3 EDNRB SEMA4A PRKG1 TUBB2B GRK1 BLK MAG PRUNE1 RRM2B IFT80 CITED2 PSEN1 COL1A1 HNMT ELOVL1 CDH11 SLC25A15 NEUROD1 PHF21A CRX PINK1 PEX5 RAB3GAP1 ELOVL4 ARHGEF2 WDR34 FKBP14 SLC13A5 KLHL41 EXTL3 ZMPSTE24 KRAS CACNA2D4 SLC52A3 SPECC1L IQSEC1 JAK2 GDF3 HCCS SMARCA4 C12ORF57 NOTCH2NLC FGF9 SLC25A4 KCTD7 PLOD1 MSX2 SALL1 IMPDH1 NDUFB3 PCSK9 FAS IMPG2 FAM161A TP53RK TBCD CDON ALS2 IL6 CHCHD10 TRNL1 ABCG5 CTNNA1 TBX22 QRICH1 KCNC3 CRYBB3 TRNK PDYN A2ML1 TWIST2 DNAI1 CTDP1 SLC18A2 AP1S2 DNAJC6 COL1A1 COL5A1 IL17RC DARS1 NALCN TCF4 REPS1 TRNS2 VLDLR XYLT2 ARX SLC25A46 SPTBN2 RRM2B NFIX ERCC2 ALX4 TACR3 TNFRSF11A IFT172 EDN1 PIGC NKX2-6 EFL1 ATM CLN6 CEP290 MTFMT SMO ZIC1 OCRL DNAH11 KCNJ11 NF1 SOX10 SMARCC2 SETBP1 PEX10 MALT1 ASXL1 PLP1 SERPINC1 CTNNB1 YY1 RPIA NTF4 MYF5 TAP2 HADHA MME FLI1 RDH5 TRNN GRIN2A DNASE1L3 SMS SUFU FOXP1 PRPF4 GMPPB CA8 CRYAA ZSWIM6 NFIX MED13L PGK1 MYO7A RBBP8 PIGG NDUFA6 LOX ALG9 WFS1 KCNH1 PTPN11 MIR140 PITX3 SOS1 CHAMP1 POMK GLI2 SEMA5A MAPT GJC2 NYX GNB1 SDCCAG8 CEP164 SNRNP200 PITX2 FGFR1 NDUFS3 MBTPS2 TUBB AEBP1 KIAA0556 ND3 CHRNA1 CACNA1A ACOX1 KERA ACTA1 COX6B1 TCOF1 SGPL1 OPA1 ANTXR1 DNM1 CCNK PTDSS1 PROM1 EBP SOX10 SRD5A3 HSPG2 RPGRIP1L ADAM9 LARP7 WT1 ATXN3 ACTA1 AEBP1 RPL10 VAMP1 TGFBR3 FOXC1 NHP2 FGFR1 CAV1 SLC45A2 KDM6B P2RY11 FBLN5 NDUFS2 TRNS1 SOX4 MLPH PTPN11 USP8 PIEZO2 ARMC4 RAB23 PSAT1 IMPG2 KCND3 GALK1 STAT3 GRIN1 BIN1 JAG1 NRAS DHDDS FGFR3 HIBCH NAGA SSR4 ZIC2 GJA1 NIN NUBPL FBN1 SLC4A11 GNAS ESCO2 EFHC1 PSAT1 DNMT3B TPM2 LRPAP1 LRPPRC AGXT GCK IFNG B9D2 MUSK WARS2 POLH MAPT GBA2 ARL13B TWIST2 TNFRSF1A PRRT2 IDUA STT3A STRA6 ERCC3 ADAT3 CRYBB1 CYP7B1 TUFM POC1A GP1BB APC SLC52A2 CTNS PPP1CB PROKR2 NHS FAM20C KCNE5 CDK10 BRCA1 RERE PIK3R5 STXBP1 DVL3 NBAS STXBP1 RFWD3 CEP290 SLC24A1 PRX MAG SMPD1 ICOS DKC1 BPNT2 SMAD4 PRPS1 NRAS EXOSC3 SDHA GPC3 XPC AGRN PRPH2 ALG2 ARL6 UBA5 LMNA COL11A2 HK1 ITPR1 HSF4 SUCLA2 NUS1 KMT2A PMM2 ALDH18A1 EXT2 SRY GGCX UROC1 HYLS1 COL1A2 COX7B CDCA7 WRN VHL CACNB4 BCOR AP1B1 PROP1 MAPT MMUT COG4 PAX6 NDUFS7 RAX NPHP1 DDHD2 CLRN1 CLRN1 GLI3 NOG GPC3 PUS1 RARB ESR1 PIEZO2 MAPK1 TAB2 DOK7 GNB3 POMT2 SPR KRAS PPP1R15B FAT4 FIBP DVL1 EOGT TRNT IGF1 NADK2 HLCS CDON TANGO2 THOC6 ATP13A2 SCN4A TAF2 ATM B9D1 COL7A1 ARL3 AKT1 MYH9 THPO LONP1 GTF2H5 CYP27A1 TERT KCNA1 TPM2 COL2A1 OSGEP GRID2 CDH23 PAX3 ITGA2 KCNJ11 RYR1 USP7 MKS1 ND2 RB1 VAMP1 IFT172 TBX1 TUBB4A CEP290 H19 PDE4D CDHR1 NDUFAF3 WNK1 FKTN CYB5R3 RBM10 LMNB1 KIFBP ROR1 PSAP TXN2 BEST1 UBE2T APP GK CDH3 CHRDL1 POMGNT1 TMEM67 SLC25A22 ZSWIM6 CD79B CEP290 PIGO TMEM98 VIM MAP3K20 FBN2 IKBKG GREB1L CC2D2A KIT SIL1 RIPK4 FANCE MRPS34 LARGE1 FLNB KIF11 POU3F4 DHCR24 NPHP1 FAM161A CDH23 CHD7 UBE2A AHR NDE1 EDNRB PTCH2 PTCH1 ACY1 FGFR3 CYP1B1 USH2A DENND5A GNAS RD3 MITF FOXRED1 MAP2K2 DNA2 SRD5A3 PHGDH SOX9 TBCD TBC1D24 DNAAF4 TONSL RRAS NOD2 APOB TBC1D24 HTRA2 SLC19A2 AKT3 DAG1 RIN2 MGMT KIF7 PRRX1 TCF3 MYO9A NKX6-2 KIF7 PPP1R15B AARS2 ASXL3 DPAGT1 SYCE1 GRIP1 CEP120 PRSS56 MAPT PDHX BRAF ADAR TBC1D24 CRYAA PARN HECW2 COL3A1 TXNL4A TPM2 ZNF365 SLC25A24 AP4S1 DHCR7 COL27A1 ADA2 TSPYL1 HNF1A PAX6 ORAI1 RLBP1 ST3GAL5 SH3PXD2B GRM1 TTI2 MTTP PMS1 KCNA2 MTFMT PLK4 RPS6KA3 COL4A1 FLNA ATXN1 NDUFS8 COQ2 COG1 ND1 TDRD7 FOXL2 AGRN RRM2B PGAP3 APC GNAT1 GTF2H5 SON FANCM LDLR RET VHL ABCA1 PEX10 EIF2B3 ARHGAP31 BMP4 FBXO7 ZMYND10 TRPV4 EPCAM PLD3 ABCD1 GDF6 FLNB TBL1XR1 PEX14 FA2H ELOVL5 MPLKIP MBD5 HARS1 FYCO1 GLI3 UNC119 AKT1 APC ARL6 LZTR1 MYF6 FLRT3 RASGRP1 PDHA1 CENPE TCF4 NDUFB11 TNFRSF11A TTPA WNT1 HLA-B PEX1 SOST EPM2A SON BGN ARL13B KCNJ11 TREX1 BTNL2 CLRN1 MUSK FGFR1 COL2A1 OPA1 KMT2D CYBA KAT6A MFSD8 VSX1 PPP2R5D PNPLA6 FGFR3 CASK PCYT1A TMEM231 OPA1 PLG TAB2 PGAP2 DNAAF6 ANKRD55 PYCR1 LYST ND4 TRMT10A RPE65 PDX1 TANGO2 TBX1 MRPS14 IL17RD AHSG LYST ATXN8OS SPATA7 PEX6 ADGRV1 DSE PIK3CA RPL10 AHR GATAD2B COL11A1 SFXN4 RAB39B SDHAF1 SNAP29 NANS VAMP1 PDGFRB HPGD ATRIP CTNND2 PARS2 FARSB POMT2 PRCD COL2A1 FGFR2 RTTN PIEZO2 TGFBI MED12 CASK GRIN1 ARX HNF4A ALG9 BPTF SPG11 PEX5 CLCN7 ABCA7 FMR1 CACNA2D2 WDR34 SEMA3E CPLX1 SPRY4 ALG2 ARMC9 MFRP VSX1 WWOX EED KLHL40 CCDC103 SYNE1 GUCY2D KCNA1 SPATA7 WT1 RNASEH2C ABCC8 GABRA3 DYNC2H1 GPC4 HLA-DRB1 POMT2 COG8 OFD1 TRIM44 ALS2 ND5 IGHM HEXB KRT86 TRIP12 MAPT CTSA P4HB SLC2A1 TWNK PHOX2B FGF12 ARR3 ACTB BCR TRAF7 RRM2B NOTCH3 CYP4V2 PRSS56 SDHD DDX59 MAP3K7 COL9A1 FAM111A LRP5 CTBP1 CRX DPM1 CRB1 IFRD1 PEX12 TRNS1 ESS2 DPF2 IDUA RNU4ATAC KCNJ6 SACS PDE4D MST1 CA4 MSTO1 TGFBR2 RBP4 PABPN1 HADHA DNAH9 TCTN1 EFHC1 GLI3 GATA6 PEX19 PDE4D LRP4 NAGA PRRT2 APC TRIM28 TUB NLRP3 CTSK IDH3B LOXL1 INPP5K MFN2 PAX6 BFSP2 RECQL4 CLCN4 CRX TP63 PIK3R5 MEF2C PSEN2 FLNA TYMP COL11A1 GNAO1 CEP78 EBP STUB1 TK2 TMEM67 PNKP NHP2 CRYBB1 NEFL TDGF1 MYH3 PARS2 CDCA7 FLNA CAMTA1 PGK1 PRNP SIL1 COL4A4 CACNA1G ATP6 TRNQ SIN3A KIZ AGBL5 OAT PAK1 RBP3 CRYBA1 CHRNA7 COX8A FREM1 AP3B2 VLDLR PQBP1 PTF1A STAC3 KDM6A TGFBR1 GNB1 PTF1A RAB18 NTRK1 PARK7 HLA-DRB1 SHH ABCA4 CACNA1G SLC25A20 ITGB6 FZD2 FGD1 ALMS1 SLC4A11 NRAS GFPT1 LAMB1 PCNT TMEM67 MAP3K7 PRPH2 GRM1 MCOLN1 AARS1 STT3B ADA2 SMC1A TGFBR2 GMPPA FBXO31 HACD1 MOGS RET KMT2B RNF125 SUCLA2 FANCD2 FKBP14 SOX2 ACTB NEK1 ANKRD11 VHL GLA CDC42 SCO2 FERMT1 ATG5 ERCC2 SLC25A11 FGF3 DYNC2H1 GUCA1B ABL1 ABCB6 PRKDC CACNA1A SCO2 STXBP1 DCPS ASAH1 ATP6V1B2 ND1 HSD17B4 FXN SLC16A2 NACC1 DLG3 ERCC5 FANCL FRAS1 PDE6C FSCN2 THRA WDR73 PLOD1 FIBP EXT2 STAG1 FLT1 CFL2 FBN1 OPN1MW GJA1 GBA ACTB WASHC5 MTFMT PROKR2 TRMT5 IFT43 KISS1 CDC42 MMP2 THRB OGT CARS2 TRNS1 MAPKAPK3 ZMPSTE24 TMCO1 CFAP298 GATA2 SURF1 ZIC1 TP63 AHI1 CKAP2L MEF2C FUCA1 KIAA1109 HS6ST1 DNAAF1 TFG DPP6 FGD1 SIX3 CAPN5 CAPN1 TREX1 APOC2 XPA FKRP GLB1 CHRNA1 KIF7 PCNA ASB10 PTPN22 RAI1 INPPL1 MGP HPGD CNGB3 ELN CBS SLC25A1 AIPL1 MFN2 CHD3 CYP27A1 FGFR2 TERC LOX COX1 COX15 XPC PRKAR1A ZBTB18 ENG BUB3 NDUFA11 DOCK7 FANCA CNGB3 DYNC2LI1 ATP1A2 RAI1 SPRED1 MASP1 TRNF CCR1 MAD2L2 PKP1 GJB4 EVC2 ATP1A2 SMARCC2 TRNV C8ORF37 COX14 JRK NYX CRIPT CEP57 BMP4 MCM5 TENT5A CLDN19 WIPF1 SLC25A13 PEX12 BCL11B P3H1 INPP5K HTT ZNF592 BCS1L OPN1MW PAX6 ACADSB RIPK4 GPC1 KCNJ13 CHRNB1 JAM3 GRK1 TNFAIP3 CYP1B1 GJA8 SLC2A1 NUS1 OPA1 GAN CEP55 NLRP3 TRNS2 KDM6A NDUFAF4 BBS2 NGLY1 SLC39A8 ATXN7 COLQ CCNO BBS9 NDUFAF1 SQSTM1 CNOT1 PEX26 POLR1D ATIC TK2 SIN3A PITX2 WFS1 ETFDH KIF1C CISD2 LRRC8A CHST6 COA8 SELENON USH1G IFT27 SH2B3 OSTM1 SMOC1 ZFYVE26 TBL2 UBE3B BCAP31 CLDN16 LSS PRPF4 PNPLA6 TEAD1 TWNK PMPCA PEX1 POLR3B WDR4 XYLT1 ITPR1 ALDH7A1 PRNP PDYN TWIST1 MDH2 PRPF8 COL11A1 ICOS RB1 STRA6 YY1 USH2A FBXL4 RDH12 PRKCG GMPPB XPA AFF4 SCN4A KIAA0586 KNL1 RASA2 SOX2 NEUROD2 DONSON ERF TRNW PRNP NDUFAF2 ERF SLC6A8 GUCY2D TMEM240 GMPPB CLCN7 PRPF8 SOS1 ARNT2 DPM2 GNE ARSA PEX7 EXOSC9 BBS10 USH2A CCBE1 SMCHD1 SNX14 MYH3 FGF8 COL18A1 NME8 RAD21 NDUFAF3 DGUOK DPF2 BUB1B TRAPPC9 PIGO ERCC3 ALDH18A1 RAB11B OPN1MW FANCF GTPBP2 WDR19 TBC1D20 ASNS FAS SIX1 PDGFB CLCN7 ADAMTS2 IGFBP7 HLA-DPB1 PRIMPOL HCRT SHH SLC45A1 RAX2 DLST HSPG2 POMGNT1 CSTA PTRH2 TFG CRYBA4 TMEM138 SLC35A2 AMER1 DUSP6 HOXA13 COL11A1 NDUFAF5 COQ7 ALS2 KCNJ11 ERCC2 ADAMTS17 TP63 ERCC4 TMEM216 OPA3 LMX1B ITGA3 PDE6B RPGRIP1L FAT4 TRNK RAI1 TRNL1 GLI2 SPEF2 TIMMDC1 NSMF NDUFS4 RASA1 ZNHIT3 PIK3R1 PAH CHST14 GNAQ PRDM5 KRT81 KCNQ2 BBS7 PIGP SDHB GRIN2D LINS1 CDH23 ZNF513 NDUFAF2 IQSEC2 ATP6V1A LBR CEP120 ATRX ANK1 NEXMIF RNF113A CRYBA2 IRX5 GDF2 ALMS1 TRIP11 NR2F1 FGFR3 GBA HBB PUS3 AP1S2 BCORL1 SALL4 PUF60 COL12A1 HOXA1 TRIM28 GDF6 WHRN NOTCH3 MAF PIGL IMPDH1 RRM2B LHX4 TGFBI DNAAF3 CDON SNAI2 AGA IFT172 PDE6D NDUFA13 ASAH1 NPM1 IKZF1 TTC8 GLB1 LRRK2 ITPR1 WNT3 CLRN1 CEP152 CLIP1 PUS3 CNGA1 DNAJC12 RGS9BP ARSA ZEB2 MTHFS TRPV3 MLXIPL SPAST CRB1 RNF216 DNM1L CDH23 IKBKG TUBA8 PACS1 TXNL4A ALX1 TGFBR1 B3GALT6 EBP ELP1 NDP BAZ1B PRPS1 IL12B MAX POU1F1 SLC7A14 PEX1 CHRNG GP1BA PEX5 SCN8A MEN1 IBA57 KDM5C TUSC3 CPLX1 COL8A2 WDPCP ACTG1 ADAMTSL4 POMGNT2 HIKESHI MECP2 BOLA3 USH1G SORL1 RP1L1 PTEN AIFM1 ADAMTSL4 SDHB OTX2 GLB1 TRNW RET ALG11 KIDINS220 PDE6B POLR1A KDM1A IGHM IFT140 POGZ SCN3A LBR SLC25A24 NIPBL SBF2 SYNJ1 NIN NDUFA1 CLN8 IMPG1 GJA5 GTF2IRD1 UBA1 ATP6V1E1 MPZ LMNA LAMB2 GP1BA PEX1 SPATA5 PRKAR1A CCDC65 CRX NDUFS7 DLAT PAFAH1B1 SPG11 PYCR2 RP1 MYORG CLDN10 TRAIP ADAMTS3 SOX11 COL2A1 UBAP1 PDZD7 GATA1 COL8A2 NUP133 ZFHX4 GMPPB TWNK DNM2 CACNA1A SIX6 CHD7 NEU1 RBPJ CLEC7A PSAP KIF14 ATF6 PAX3 RAB3GAP2 RP1 TP63 BAP1 NF1 CHRDL1 TP63 NDUFV2 MAFA TGFBI PIEZO2 LACC1 DSE OPA3 ZMPSTE24 GBA CCND2 PPP2CA CABP4 LRP5 CA8 ZBTB20 TOP3A RPL35A DPH1 TCIRG1 GLIS3 DYNC1I2 RUNX2 ALDH18A1 SCP2 LTBP2 COL11A1 CHST14 DNAH5 TRNL2 CTSA KIF1C TRNK DCPS REEP6 TBX1 ABCA4 LTBP2 B4GALNT1 SCN2A DNAH1 RHO MAPK8IP3 PRPH2 PEX2 COL1A2 KMT2E HS6ST1 CLCNKB NFASC COX2 AP3D1 HSPD1 EYA1 AASS ITPA GPAA1 FKTN MID1 PITX2 PRPH2 UROS PRDM12 PAX3 CORIN USH2A ATP2B3 SBDS GNPTG LIM2 LRP5 LRRK2 PMP22 FHL1 H19 CLCN2 CNNM4 CP C12ORF4 TGDS CHD8 SH2B1 IMPDH1 P4HA2 PLCD1 SPART RECQL4 GNPAT ANAPC1 CKAP2L MYOC VHL SNIP1 SMPD1 PLA2G6 CHRNA1 HRAS ABCA12 FLNA DNM2 CBS RPGRIP1 UBE2A NDUFB8 COX7B ACADS GABRB2 CEP41 NTRK2 MYO5A TBL1XR1 FRMPD4 INPP5E PIGN DGCR2 CRX HADHA HMGA2 DNMT1 TTR POLD1 SMC3 KANSL1 SOX5 KRT12 CYB5A PCK1 TSC1 HNRNPA1 ATP8A2 TNFSF4 POMT1 FREM1 FLNA PIGN ERCC6 UMPS TRRAP MSMO1 SLCO2A1 EEF2 HCN1 TMEM67 NRL IFT122 ZC4H2 TACR3 PEPD ATP13A2 LMNA ZIC2 ZDHHC9 ACVRL1 GABRB1 LPL LMOD3 DIS3L2 VARS1 VPS11 GNPTAB NDUFS6 COL5A2 GNAT1 RFC1 KRIT1 FGFR2 TBCK SNX10 B4GAT1 APC MITF NDUFV2 TIMM50 BMP1 ERCC4 TSPYL1 LRP2 KIF7 CTNNB1 ATP13A2 DRC1 SDHD IFT140 SDCCAG8 AFG3L2 MMACHC POLR3A NPC1 FZD4 COL25A1 PEX5 CDH23 AGK ZFPM2 IFT80 PRPF31 WDR11 GRM6 GLI1 HPS1 ALDOA LARGE1 MTTP DVL3 PPP2R1A RAB23 TFAP2A FGFR3 NDUFAF6 FBLN5 EMD TREX1 SEMA4A SMCHD1 SNAP25 MEGF8 MUSK HGSNAT PEX26 NONO FGF14 CAMTA1 COL9A2 B3GALNT2 MARS2 DGCR6 SLC19A3 GPC4 RPGRIP1L FOXRED1 WDPCP FKTN GDF6 ROBO3 CARS2 YWHAE SMO EBF3 SAG PEX2 SLC38A8 FGF14 XYLT1 STXBP1 GABRG2 G6PC PRDM5 HLA-DRB1 AMMECR1 DLL1 TECR SOX9 GUCY2D SH3PXD2B KCNH1 NOP56 ATP13A2 FARS2 GATAD2B NDUFAF1 ABCC6 TWNK LAMP2 AUTS2 CYBC1 MAX FOXE3 DVL1 RECQL4 SALL4 PIGL HESX1 GNB3 GMPPB ALG2 LCAT NKX2-6 STUB1 XYLT1 ADAM9 AIPL1 PIBF1 CEL DGCR8 SETX FRAS1 TRNF TRPV4 MYO6 MKRN3-AS1 TBX15 ACTL6B TP53 LAS1L COL1A1 NDUFA6 ASPH B3GAT3 DNAJC19 APOB DHODH TRAK1 RSPH4A CLTC COLQ BEST1 BNC2 ALDH5A1 QARS1 LRAT CNTNAP2 TSEN54 SKI CYTB CACNA1E CTBP1 CHAT OPA1 PPP2R1A CFHR1 CTCF IQCB1 TBC1D20 GLI3 CRLF1 CD96 KDM6A FRG1 PROM1 ATRX RDH11 GFPT1 MYSM1 DNAI2 ND4 PEX6 NR2E3 KIF1B ZMPSTE24 COL11A2 UCHL1 UFC1 GORAB BDNF VHL DYRK1A PPP2R2B CLCN2 LBR DDC SMAD3 KITLG PEX16 HESX1 RPGRIP1L NF1 ERF TYROBP ABCC6 COL3A1 TRAPPC9 BIN1 PDX1 SDHA PEX14 CYP1B1 TP53 TH PIGW AMPD2 BBS9 LARGE1 ABCC8 CASR GMPPB NDUFS6 GABRB2 AP5Z1 WHRN CHSY1 GJB2 RNF13 SEC24D CLIP2 ERCC8 HSD11B2 NPHP3 MPZ PLA2G6 PYCR1 MVK COL4A1 CP TMEM127 GNAS TAPBP GPR179 FAM111A ALDH18A1 NDUFB11 HTRA1 CEP290 GRIA3 TMEM127 SHH LMNA FOXH1 SNAI2 ALDOB CRYAB TBC1D24 UBAC2 FBN1 MED13L POLG NLRP3 MBTPS2 TSC2 YAP1 PPP1R17 IDUA PLEC NDUFS8 GNA11 UBE3B HSD3B7 CNNM4 RMRP AP1S2 KCNQ1 GPR143 NHS FDX2 PEX7 HLA-B KDM5B ADGRV1 CLCN7 NAGA DNAJC13 ATRX NEU1 WDR60 TYR MTPAP FLNA BCOR TOMM40 ROR2 ACD BCOR KCNQ3 TARS1 FOXC1 ATN1 RET POLR1C TPP1 OFD1 NOTCH2 CPLANE1 PNPO ALG14 CNGB1 LMNA EFEMP2 B9D1 KRAS RNASEH1 POLG PLEC PDGFRB IGH ALDH1A3 NALCN USP9X PIGN ACY1 NOG CLN5 PPP3CA TRPM1 TCIRG1 OPN1LW DCX COL7A1 GMPPA CPLANE1 BRCA2 KCNJ1 DLL4 MYPN PCNT POMT1 FDXR L1CAM MGME1 SLC39A4 PRKAR1A COL2A1 GMPPB KLHL7 EMC1 RNU4ATAC LRAT DNA2 SAG FA2H ATXN8OS PRKAR1A OVOL2 ARID1B FOXE3 TPM2 KRT14 B4GALT7 GPAA1 PDE6A ZIC1 RNU4ATAC DDX11 DNMBP RPS19 ARL2BP HPS4 TRPV4 AP3B2 TYR PRKCD ALPL GZF1 PRPH2 TTC8 NUBPL TCTN3 SNRPN SH3BP2 FLVCR1 CENPE TBC1D24 DCN CCDC47 OPN1LW ITM2B TBC1D24 KAT6A B9D2 MAN1B1 PTCH1 HESX1 RAG2 RPGRIP1 FBXL3 HIBCH VWA3B NPAP1 BBS5 FRRS1L TUBB2B FAN1 PCDH15 FERMT1 ANO10 ABCC9 DPH1 ERF COL13A1 TULP1 COL4A3 ADAM17 VPS13B APC ND1 PEX13 BLOC1S3 COL1A1 ATP6V0A2 CTC1 NSMCE2 RPGR LIPT1 WWOX VAC14 SUZ12 LRMDA SUFU KCND3 MANBA FGFR2 DPAGT1 ADAR CACNB4 GNAQ IGLL1 TMEM94 FREM2 VCP BTD PTCH1 PLAGL1 CHRNB1 UBE3A MMADHC CHM FOXC1 ZNF408 PTCH1 GALK1 TSC1 ERCC5 DDR2 SMC1A MACF1 APOA2 SPG7 DKK1 CHSY1 SPEG BAP1 CEP104 PLA2G6 IGBP1 POLR3A DNAAF2 GGCX COQ2 APPL1 COL17A1 CPT2 LAS1L GDF3 PEX6 CCDC141 ACOX1 GPC4 YARS2 MIR184 HYMAI MAK FEZF1 XRCC4 SKI IDUA MCOLN1 RSPO2 CLCNKB KCNJ11 KCNV2 ATP1A3 STS NKX2-5 UNC45B SLC25A4 ENG CNTNAP1 ORC1 THOC6 POLR3A SLC2A1 SLC9A1 UFM1 TRNL1 KCNA2 RP9 GPIHBP1 STS NELFA CABP4 MYH3 EIF2B4 TWIST1 AMER1 HDAC8 GNAS TTC19 LYRM7 ATP6V0A2 BRAF CACNA1A WNT10A KISS1R SETBP1 KIAA0753 NSD1 MAFB CSPP1 ACO2 RANBP2 KRAS ERCC5 TGFBR2 RFT1 LZTR1 FBXO7 DVL3 STN1 PTEN ND2 SEMA4A RNASEH2A RNASET2 IFT74 B3GLCT C19ORF12 FGFR2 TGM1 KDM1A TMEM216 LTBP2 PMPCA LHX3 ITGA2B PXDN KIF1A TTN DGUOK BRCA2 IDH3B DDX58 WDR26 RAPSN CACNA1D FBN1 SNCA NOP10 FGFR3 NDUFB11 JMJD1C MEIS2 RAF1 TPP1 RSPRY1 CHST6 DGUOK SAMD12 PHGDH ND3 C9ORF72 KRAS SNORD116-1 CTCF GABRA5 SLC18A3 STAG2 YME1L1 FUT8 RAD21 PNKP ND5 RPGR TP63 NDUFAF5 NCF1 PROC RAD51 FLNA SCN1A GIGYF2 MITF PIGL ATR IBA57 FARS2 ALX1 PIGQ ZIC3 PROKR2 NEB PCARE HYMAI PRPF3 ATN1 BCAP31 KLC2 COL1A2 TP53RK SMOC1 SYNE2 PLP1 RPGR TMTC3 TIMM50 CCND1 SYT14 ABCG8 HOXB1 TULP1 LAMB2 WDR34 SLC52A2 ADNP CCDC151 CACNA1F KRT5 TRAPPC12 KLHL41 TCF4 NKX6-2 TCIRG1 HACE1 CTNNB1 C2CD3 DRAM2 SPATA5 TRNL1 FKRP COG1 NDUFAF4 TRNL1 RGS9 FGFR2 MOG LEMD3 AUH FGFR2 IMPDH1 DPM1 MYMK HDAC6 PRPS1 HADHB POU1F1 ALDH3A2 ZEB1 CAPN1 LAMA2 TSEN2 SCO2 POMK MED12 RNF113A ALX3 BEST1 FRMD4A CDKN2A UNC80 TWIST1 INPPL1 PAX3 SLC24A5 TNFRSF1A MITF STS MTM1 KIF15 RPGR RYR1 FRRS1L OPHN1 NOG MAST1 FGFR3 NDP BRAF SLC6A19 NRAS IFITM5 ABCC8 FXN SUMF1 PITX2 PEX3 RGR PEX14 KIF2A WARS2 ZMPSTE24 IREB2 C8ORF37 SPATA7 TCTN2 ATXN1 NOG FGFR2 TRIM37 MECR PSAP DNAJC21 ABCC8 STAC3 EYS LMX1B CNGB3 PDHA1 FTL PTCH1 SPECC1L TERF2IP SLC6A3 ACTA2 CHRNE CACNA1D MBOAT7 SIPA1L3 NDUFB9 ITGA8 PAX6 SEC23A AHI1 PDE6C MMP14 RP2 PIK3R2 HERC2 CACNA1A CTNNB1 SLC4A11 POMGNT1 NKX2-5 MID2 ATP6AP1 TMEM216 PDE6D CEP41 STRADA SHROOM4 FGFR1 TRAPPC2L GDF5 KRAS IDS NOTCH3 FGF5 FOXC1 EZR PET100 WFS1 EP300 NLRC4 COX15 KIF1A ARSL RHO NODAL PAX6 MBTPS2 TH PHOX2B DOK7 DNAJC19 NAGA PMM2 OCA2 HLA-DRB1 PAH HACE1 FOXC2 IQCB1 KLRC4 SAMD9L KIF1B PDCD1 TAF2 KCNK4 PLAGL1 RPGRIP1 NT5C2 PRKN PEX16 MERTK MPZ RDH11 TAT CYP1B1 KIT PIGY FGFR2 HDAC6 LZTFL1 COLEC11 PDE6A FH PDE6G SLC1A2 CHRNE IMPG2 CC2D2A KIF1A GATA3 RBP3 PROKR2 FAT2 MPLKIP ADPRS AP4M1 ALDH18A1 MTO1 SPRTN PCYT1A MAK NDUFS3 HRAS HPS6 GLRB HERC2 EEF1A2 EXOSC2 NLRP3 PIEZO2 TGFBI DAB1 RETREG1 ACTB RYR1 IFIH1 CTNND1 WT1 POMT2 MCM3AP FOXP1 LIG4 MAPT CEP83 TTN SELENON GRHL2 LAGE3 DBH SOBP KCNH1 SHANK3 ZNF408 STAG1 PAX3 FGFR1 ATP1A3 PSAP FBN1 GRIA4 ALDH18A1 CACNA1S LARGE1 IGF2 NIPBL NR2E3 BLNK PEX10 TMEM126B KLHL7 ARHGDIA CCDC88C IFT172 CNGB1 POLR3B ASXL3 PDE6G NOTCH1 ATAD3A FGFR1 DBH EHMT1 NCF4 SMAD4 AGBL5 TTC37 RAB3GAP2 CFAP410 GBA2 CEP78 GABRB3 CAMK2B POR CDH3 INVS RDH5 EDNRB PTPN22 DLX5 OFD1 CRX ADSL TMEM67 MAGEL2 TET2 CFAP300 SEPTIN9 CFHR3 IMPG1 TUBB RP2 IGF2 MSTO1 MYO9A EEF1A2 RHO SLC25A15 ANO10 CC2D2A TNFRSF13C NOP56 MKRN3 NSMF SKIV2L AIPL1 CLN3 OPN1LW SLC12A3 RTEL1 TCTN2 RAB3GAP1 TPM3 DDB2 TRNV TINF2 PIK3CA NPC2 TRNS1 SMAD4 PAX6 AP3D1 CNTN1 ELMO2 IL10 DLX4 SNX14 NALCN PEX11B CLCN4 FBXO11 MFSD8 CDHR1 CASP10 GCM2 SET EXTL3 CHST3 RAPSN TWNK GBA ATP6V0A2 ROR2 COX3 AAAS HERC1 PLAA ASPM CRYGB NUP62 CCNQ TGM5 ABCA4 TBC1D24 TTI2 GLE1 NDUFA4 NEB FH COG4 LZTFL1 TCF12 CBL KLC2 IQSEC2 SLC16A2 PEX26 MARK3 COL4A3 FAM111B CENPJ DMPK AIRE BLOC1S6 ZFPM2 FANCG PDE4D WDR35 SAMHD1 LIG4 LAMA1 WDPCP AP4M1 COX1 CD19 FLCN SNX10 SLC9A6 MIPEP TUBG1 GABRG2 EIF2S3 AIMP1 SNRNP200 CYP1B1 SLC16A12 FANCB PRNP MAP2K1 ELOVL5 TMEM216 TNF CWF19L1 ECHS1 HNRNPDL OPN1SW DCHS1 SPTBN2 TTC7A PRPH2 PNPLA6 PTH1R APC COL6A2 ERMARD TAT DHX38 FGFR2 ACTL6B KAT6B LAMB2 PANK2 TDP1 PNKP GPR143 MRAS SALL1 HUWE1 VPS33A FREM1 MITF CD96 ITPR1 MYH3 PEX12 SNAI2 AP3B1 MED12 DCTN1 GNPTAB
Protein Mutations 1
P23H
SNP 0