SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation V326L

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans

RSH/Smith-Lemli-Opitz syndrome (SLOS) is one that causes mental retardation. It is common in the Caucasian population but rare in African American and African black populations. It has been shown that SLOS is caused by a specific defect in DHCR7, an enzyme used in cholesterol metabolism. Studies have already been done to determine the frequency of the SLOS-causing mutations in various geographic Caucasian populations. This study will investigate the frequency of the DHCR7 mutations in the African American population. If the frequency observed suggests that SLOS cases are not being identified in this ethnic group, the study will provide the rationale for future studies to identify these patients. The sample size will be 1,600. The study population will consist of archived biological specimens in the form of newborn screening blood spots from two newborn screening centers, one in Maryland and one in Pennsylvania. Subjects will be of African American ethnicity, including blacks of African, Caribbean, and Central American descent. Genomic DNA will be extracted from blood spots and screened for the six common SLOS mutations. If SLOS syndrome is found, followup will be attempted for the Maryland samples (the Pennsylvania samples will be totally anonymous).

NCT00017732
Conditions
  1. Smith-Lemli-Opitz Syndrome
MeSH:Cleft Palate Hypertelorism Hypospadias Genetic Diseases, X-Linked Smith-Lemli-Opitz Syndrome Syndrome
HPO:Cleft palate Hypertelorism

In these Caucasian populations, the most common mutations (IVS8-1G>C, W151X, V326L, R352W, R404C and T93M) account for 60% of SLOS mutant alleles. --- V326L ---



HPO Nodes


HP:0000175: Cleft palate
Genes 886
CDC45 TBX4 SMARCA4 RPS19 GRHL3 PROKR2 SLC25A22 DCC FGFR1 LMNA XYLT1 PSAT1 PIGO GP1BB COL2A1 FANCI HS6ST1 SLC25A19 NSD2 SEC24C CDH11 BMP4 NELFA YAP1 CHN1 IRF6 POLR1A TP63 FGF20 CCDC141 NSD2 PIEZO2 TRIP13 FEZF1 SOX2 RPS23 FOXH1 FOXC2 NID1 NECTIN1 NFASC TMEM67 ORC1 FOXC2 RAD51 ERCC4 COL11A2 SMARCD1 ASXL1 DVL3 HYLS1 DGCR8 SELENOI BMPER MED25 EIF4A3 SATB2 SMS FANCL RYR1 FOXH1 TUBB MUSK GNAI3 NEK1 FLNB PGAP2 PTCH1 TCOF1 BRAF GAS1 MAP2K1 STAG2 COL11A1 FLNA PROK2 TP63 PAX3 SEMA3E KIF7 FLNB SIX1 CRPPA TWIST1 RPL15 FGFR2 SPOP NODAL LETM1 FKBP14 RPS15A HESX1 KMT2A COL11A1 FAM149B1 DISP1 PHGDH RBM10 FGFR2 WNT3 RPL26 ARID2 SEC23A TBX15 DVL1 RPS27 ARNT2 FANCM SMAD4 KIF7 KISS1R TDGF1 KIF7 SLC2A10 NPHP1 SELENOI CYTB FTO GLI2 FGF8 ALX1 CPLANE1 FLNA PPP3CA LARGE1 NIPBL FANCG TBX6 COL11A1 ATN1 MYH3 RPS19 CASK PIGO WDR11 PEX2 CDON PLCB4 STAG2 SIX3 SON RB1 CHD7 ZIC2 FAM50A FOXE1 RIC1 TBX22 FGF8 POLR1D OFD1 SHH PALB2 DLX4 SON SIX5 TGFBR1 NODAL COL11A1 HAAO BUB1B ZIC2 SMC1A TBX22 CTCF ZIC2 GAS1 SLC35D1 STAC3 KCNJ2 GPC3 B9D2 SEPTIN9 FLNB TMEM231 ARX PIGN TBX1 CHRND NSMF TDGF1 COL2A1 DYRK1A FGFR2 BCOR SCARF2 SOX10 FANCB CHRNG PIGQ TSR2 COL11A2 RPL26 DISP1 WNT7A PTCH1 EFNB1 GMNN ALX1 GLI2 EDN1 TRPV4 RIPK4 NSUN2 TRRAP COLEC10 ZEB2 CHST14 ARCN1 SMAD3 DHODH DHCR7 RBM10 DPH1 BUB3 GJA1 LIG4 SPEG MASP1 IRF6 KRAS PTDSS1 SMCHD1 SH2B1 TMEM216 FOXA2 DGCR6 EDN1 PRRX1 COL11A1 HOXD13 B3GALT6 RPL5 TGFB3 KAT6B SLC39A13 COL4A1 TMEM237 GLI3 MSX2 MIR140 PIEZO2 MED25 ACBD5 TP63 IRF6 SMS RREB1 COL2A1 PROP1 SLC10A7 CEP57 B9D2 PQBP1 RAD51C FGFR1 OFD1 TBX1 SETD5 ESS2 CDH11 AMMECR1 ZMPSTE24 BMP4 FANCD2 STAG2 PIGV NUP88 CHSY1 MEOX1 TDGF1 ATR RUNX2 POLA1 RIPPLY2 SCN2A SOX9 RPS7 LOXL3 PIGL FKTN PEX7 SEMA3E WDPCP DDX59 GNRHR GLI3 FGFR1 FGFR1 BRIP1 PTCH1 LBR TBR1 GLI2 POMT1 RAD21 SLC18A3 MSX1 TAPT1 POLR1B PORCN FLNA FAM20C CENPF RAI1 ARID2 HDAC8 COL2A1 COL11A2 CTNND1 FOXH1 FOXP2 DVL3 SUMO1 TP63 COL11A1 ITGA8 GDF6 SOX3 TMEM216 CEP290 REV3L TGIF1 ARID1B SPRY4 FGFR2 FGF17 FANCC BCOR DHCR7 GDF6 PTCH1 UBE2T TCTN3 GRHL3 MUSK CDC6 PROK2 RPL27 CARS1 MID1 TGIF1 GAS1 KCNA1 WASHC5 INTU RPS24 INPP5E FKTN TFAP2A RPL35 RPS17 MKS1 ECEL1 COL2A1 COMT NEB MKS1 SHH MYH3 PIGV ATRX PIEZO2 NFIX DEAF1 PIGL PTCH1 SATB2 FOXH1 POLR1D PTPN11 FLNA FLII PIGW TGIF1 CDKL5 SMC3 CC2D2A EYA1 PROKR2 FANCA YAP1 TCTN3 SMARCC2 FGFR1 EARS2 HYLS1 TWIST1 FLNA TDGF1 MEIS2 RPL31 FLNB RPS26 DLL1 RPL18 DVL1 SHH TGIF1 CEP120 COL9A2 TGDS HSPG2 FOXE1 C2CD3 FGFR1 CHRNG SF3B4 BUB1 LFNG FGFR2 MEOX1 POMT2 DHCR24 ARID1B WDR26 MAPK1 WNT5A DHCR24 ACTB IRF6 B3GLCT DLL1 TUBB HIRA SLC26A2 COL2A1 RECQL4 FGFR1 COL2A1 COL11A2 DLL1 TELO2 TBCE TBX22 KDM6A RBM8A ZIC2 HES7 TCTN2 FOXH1 PIGP NOTCH2 NODAL ANKRD11 POMT2 WDR11 RNU4ATAC SMARCB1 COL11A1 SIX3 PQBP1 STXBP1 CDON KAT6A ALG3 EDNRA CPLX1 HNRNPK GNB1 DPF2 COL2A1 TP63 WDR35 SNRPB SLX4 SUFU HOXA2 FGF8 MSX2 DISP1 GAS1 GPC3 LARGE1 KMT2D TCTN3 PPP2R5D JMJD1C UFD1 LMNA DLL1 IRF6 SIX3 ORC1 TP63 ARID1A FGF8 RIPK4 EFTUD2 HSPG2 B3GALNT2 CHD7 HYAL1 ORC6 SOX4 ALX4 SETD5 NECTIN1 ACTG2 DHODH CDON DLX5 ALX3 TBX1 MBTPS2 GATA1 OTX2 DOK7 RAPSN FGF9 ZNF469 SOX9 GDF3 RPGRIP1L SPECC1L TTC37 EPG5 POLR1C SIX3 FKRP NBN BRAF RPL35A LHX4 SEPTIN9 KIF14 FANCE SHH MAPRE2 EBP CYP26C1 RAD21 GPC4 COL11A1 ARHGAP31 DSE ALX3 GLI2 B3GLCT DISP1 SIX3 FLRT3 PLCB4 FGD1 DLL1 TGFB2 FGF8 SMARCE1 CHST14 BCR SMCHD1 COL2A1 PSAT1 NIPBL POU1F1 CEP41 RPL11 TMEM107 DUSP6 AHI1 TWIST1 FGFR1 CDT1 CILK1 ZEB2 NODAL LETM1 GJB2 USP9X MBTPS2 PRDM5 MYOD1 RXYLT1 STAC3 MAFB IL1B WNT4 GJA1 G6PC3 RAI1 TMCO1 SOX9 BUB1B COL2A1 SLC26A2 GNAI3 MYOD1 HDAC8 BIN1 FKRP TGFBR2 PTCH2 ARID1B CDH1 NEK1 DGCR2 B3GALT6 PROKR2 SEMA3A SMARCD1 CPLANE1 FAM20C STAG2 TMEM67 ZC4H2 FLNA POLR3A FGFR2 PTCH1 CHRNA1 GRHL3 B3GAT3 SHH GMNN GAS1 PIEZO2 DYNC2H1 FRAS1 HESX1 FANCL PGAP3 SMOC1 TP63 TTN RPS29 CSPP1 TGIF1 TMEM216 CDON RPL11 ZMPSTE24 MEIS2 KATNIP DDX59 KMT2D SLC35D1 ERCC5 MAPRE2 WNT4 SLC26A2 MEGF10 RIPK4 PIGY B4GALT7 NUP107 SALL4 GPC4 GLI2 TAC3 CCDC141 SMPD4 BPNT2 CHD7 RPGRIP1 CRKL KLHL41 DLL3 OTX2 RPS26 GLI3 HS6ST1 PIGN SMC1A TGFBR1 KCNN3 SUFU FOXF1 B3GALT6 ANOS1 FLNB EXOC6B USP9X COL9A3 CHRNG KIFBP ESCO2 SIX1 RPL5 SPECC1L ADA2 FGF8 GNB1 WASHC5 POLR1C KRAS KCNN3 ATP6V1B2 CHST3 AMER1 IFT140 KIAA0753 CD96 ARVCF PGAP2 SLC26A2 PROKR2 RECQL4 MKS1 TACR3 FANCF KLHL7 TGDS RECQL4 WHCR PLXND1 MAP3K7 FGF17 CEP120 VAX1 IL1RN SIX3 PHF8 TMEM231 XRCC2 B4GAT1 COLEC11 KIAA0586 SIX1 OFD1 KISS1 FLNB ANOS1 POMGNT1 PHGDH STAT3 RUNX2 FGFR1 DMXL2 DLG1 CDON TCTN2 NSMF KDM6A UBB TRIM8 CCDC22 TBC1D24 TP63 MAP2K2 MKKS COL2A1 SMOC1 ZIC2 TBC1D24 HESX1 CEP290 GLI2 GLI2 SNRPB FZD2 DAG1 MYMK ORC4 SLC26A2 OFD1 FGFR3 POMT2 COG1 MCTP2 FGF8 EYA1 TGFBR2 ZSWIM6 BRCA1 EFTUD2 NDNF RAPSN PDE6D PTCH1 ZSWIM6 CDH1 LARS2 TDGF1 INPPL1 SOX11 MAP3K7 GRHL3 IL17RD CDON SHH AMER1 CC2D2A C2CD3 ASXL1 WDR35 GLI2 GREB1L CREBBP POMK BGN TXNL4A NUP107 SF3B4 KISS1R TBX1 TGIF1 EYA1 SMAD4 IGBP1 NEUROD2 SOX6 DONSON NSMF BMP4 NEDD4L TMCO1 PGAP3 FGD1 PIGL DLX4 GNRH1 MYH3 CDC45 SMC3 POMT1 POMGNT2 SMAD3 DVL3 GATA3 SIK1 TCOF1 ESCO2 CDH1 UBB KMT2C KDM6A TBX2 RPGRIP1L KIF7 MAD2L2 SPRY4 RPGRIP1L INTS1 RFWD3 BMPER MED12 SCN1B CTBP1 BRCA2 TBX1 TACR3 EIF2S3 FGFRL1 KCNK9 ARHGAP29 FGFR2 KANSL1 MYMK CHD7 STAMBP COL11A2 FLNA FGFR2 RPS10 CTCF LMX1B GMPPB SMO PNKP DDX3X POLR2A NODAL MAF CHD7 RET CEP55 KCNH1 IQSEC2 PEX5 XYLT1 IRF6 OTX2 NECTIN1 MSX1 B9D1 RPS28 MESP2 PGM1 HS6ST1 DUSP6 ZEB2 COL9A1 NBN GNAO1 DISP1 MSX2
Protein Mutations 4
R352W R404C T93M V326L
SNP 0
HP:0000316: Hypertelorism
Genes 1004
ELN RPS19 SLC1A4 ZBTB18 PROKR2 TMEM94 SETBP1 HERC1 WNT5A SHANK3 FGFR1 EXT2 FGFR2 LMNA FBN1 SOS2 PSAT1 COL2A1 POC1A SEMA5A PIGO ZBTB24 GP1BB KNL1 FANCI SH3PXD2B WDR37 TARS1 EXTL3 NSD2 SEC24C ZIC3 EXOSC9 CDH11 NELFA FGFR2 PIGA THRA FGF20 LZTR1 NSD2 SLC25A24 PTH1R ACTB HELLS ITGA8 NFASC COL1A2 GTF2E2 CDK19 NF1 EIF2AK3 RAD51 HBA1 LRP2 ERCC4 FBXW11 SMARCD1 HNRNPH2 ASXL1 LBR ASXL3 DVL3 AHDC1 KIAA1109 BMPER FGFR3 SIN3A ANKH EZH2 MED25 KIF7 GLB1 SMS FANCL PRPS1 KMT2A EMC1 C12ORF57 FREM1 ACTG1 PPP2R1A PTPN11 MUSK ATP6V0A2 FLNB PITX2 EPG5 TMEM67 BRAF AUTS2 NRAS MAP2K1 COL11A1 BRAF FLNA PROK2 MYLK NEB SEMA3E TPM2 TWIST1 RPL15 FGFR2 SPOP LETM1 PTDSS1 RPS15A COL11A1 SOS1 ATP6V1A FAM149B1 PHGDH ANKH RBM10 PPP1R12A PEX1 FGFR2 PIGG MAN1B1 RPL26 SEC23A DVL1 RPS27 FANCM KIF7 RYR1 KISS1R MED13L KIF7 SLC2A10 FGFR2 OSGEP ALX1 DDX6 BRAF TBX15 WDPCP CPLANE1 HBA2 FLNA SNAP29 JAG1 WDR73 SALL4 FANCG PITX2 PALB2 ACOX1 RAF1 RPS19 PIGO SPINT2 PEX2 RAF1 ALX4 CDH1 PSMD12 FLI1 GLI3 CAMTA1 RAI1 CHD7 TENM3 FAT4 AVP KMT2E TWIST1 PYCR1 DHX37 TTC37 SHOC2 PEPD RAF1 POLR1D OFD1 CACNA1G PALB2 SKIV2L FGFR2 ABCD4 TGFBR1 SKI SEC23A WARS2 LZTR1 PRMT7 CTCF MEGF8 FGFR2 PIK3R1 TRIP4 TXNL4A KCNJ2 ZIC1 GPC3 DVL1 B9D2 MAPK8IP3 FLNB TMEM231 PIGN EFEMP2 AGA CHRND TWIST1 PIK3R2 COL2A1 ALDH6A1 FGFR2 FLCN UBE3B FANCB CHRNG DPF2 NSD1 KRAS TSR2 ALDH18A1 TRAPPC4 DNAJC21 LEMD3 TPM3 EFNB1 GPC4 TBCE ALX1 DSE ROR2 LRP4 NSUN2 TRRAP COLEC10 ZEB2 IL11RA CHST14 SLC12A6 PAX3 NUP107 SMAD3 NALCN CENPJ UMPS DHCR7 ZMIZ1 CHD4 HSD17B4 RBM10 DPH1 GJA1 MFAP5 LIG4 NTNG1 MRAS INPPL1 MASP1 KRAS TBCE ANKRD11 ZBTB18 KRAS PTDSS1 SMCHD1 SH2B1 CDC42 TASP1 CDH2 ERF GJA1 RPL5 TGFB3 ROR2 PSAT1 SLC39A13 TGFB3 FBN1 MIR140 MED25 CCND2 COG1 ACTL6B SMS RREB1 RAD51C SH3PXD2B CIT FUCA1 CPLX1 FGFR1 CDCA7 OFD1 TBX1 CDK13 ZMYND11 ALG1 CNTN1 CASK NRAS SUZ12 PIK3CA GK KIAA0586 CDH11 SUFU PTEN PTRH2 MAN2B1 ZMPSTE24 ALDH18A1 ACTL6A DPH1 LRPPRC FLNA BRCA1 KLHL41 FANCD2 PIK3R2 PIGV MED13 NUP88 CHSY1 RMRP GLI3 BCL11B KIF15 PTPN11 SPECC1L KAT6B PMM2 RUNX2 BRPF1 SOX9 RPS7 PTRH2 PIGL SEMA3E WDPCP ACTL6B LRRC8A SPECC1L EED DDX59 GNRHR FGFR1 SLC45A1 BRIP1 GATAD2B PTCH1 LBR NUP133 ERCC3 PTPN11 IGLL1 TBR1 NOTCH3 SLC18A3 TAPT1 FLNA FAM20C CENPF RAI1 MYT1L AFF4 HDAC8 ATP6V1A TBL1XR1 SMG9 COL11A2 CTNND1 TTC7A MAT2A PSMD12 DVL3 FGFR2 FREM1 COL11A1 CBL ITGA8 TRIP12 FGF10 SHROOM4 ACY1 ATRX RRAS TMEM216 PHIP WAC ACTA2 ARID1B PSMD12 SPRY4 PIGN FGFR2 FANCC DHCR7 UBE2T FAM111A TCTN3 BRCC3 MUSK VPS51 RPL27 RASA2 HMGA2 RAC3 BPTF LTBP4 ALX4 SLC25A24 MID1 SOS1 WASHC5 INTU RPS24 STAT3 BPTF FLNA TFAP2A RPL35 SLC2A10 RPS17 MKS1 COMT KBTBD13 NEB ACY1 POLR1A CTNND2 MYH3 FAT4 BRAF PIGV ATRX CTNND1 ANK1 PIEZO2 FOXE3 DEAF1 MED13L ACTB PIGL TGFBR2 ATP6V1E1 C12ORF57 MRPS14 SNAP29 PTPN11 TAF1 FLNA FLII PDE4D GRIP1 PIGW COL1A1 MED13 RPS6KA3 FANCA TCTN3 TCF12 TWIST1 FLNA IL1RAPL1 TPRKB TRIM37 RPL31 FLNB COLEC11 SOS2 RPL18 DVL1 SMAD3 WDR4 EHMT1 TGFBR1 SEC24D TGDS HSPG2 FAR1 ERF KREMEN1 DNMT3B GLI3 SIN3A TCIRG1 CHRNG MEF2C UBE2A FGFR2 FAT4 NF1 FGFR3 INTS8 ZIC1 PEX6 DNMT3A FGFR2 WNT5A SET GJA1 B3GLCT TUBB TPRKB POLR3A HIRA PIK3R1 SVBP TFAP2B TBX1 COL3A1 MOCS2 TELO2 FGFR3 NXN MAN1B1 PYCR1 FIBP PPP3CA CHST3 KIF7 CDC42 SUFU POGZ NOTCH2 FAT4 ANKRD11 NEB YWHAE PDE4D WDR11 TWIST2 BMP2 BPTF SALL4 ALG13 HRAS MTOR EED ADK ADGRG6 STRADA CPLX1 ATP6V0A2 XYLT2 ZBTB24 QRICH1 CHST3 RIT1 PTEN RLIM SOST FGFR3 TFAP2B SLX4 CDK10 SUFU GPC3 RPGRIP1L TCTN3 CASK FBLN5 TP53RK TCF20 JMJD1C PAX3 UFD1 ZMIZ1 CREBBP FREM2 NKX2-5 COLEC10 LMNA AHDC1 APC AKT1 MMP2 GATA6 FGF8 RIPK4 ABCC9 FBXO11 ALG9 MN1 ACTG1 NFIX HERC1 CCNK IGHM ALX3 KLHL41 TBX1 CD79A GATA1 MASP1 DOK7 RAPSN CCBE1 LRP2 SOX9 FREM1 SPECC1L TTC37 AIFM1 SETBP1 TMEM216 RLIM EPG5 OGT APC POLR1C TGFB2 PIK3CD ACTB BRAF ACTA1 RPL35A ERMARD FANCE CHD3 MAPRE2 EBP MARS2 TBL1XR1 ANTXR1 GPC4 DSE DDX6 CSNK2A1 ALX3 FLNA B3GLCT TBCD ATP6V1E1 ITCH FGF3 NF1 FGFR2 FGD1 TGFB2 CHST14 PAX3 WDFY3 NKX2-6 VSX1 FH PPP1CB PSAT1 FGFR3 PIGB TMEM107 MRAS MAP2K1 TMEM138 DPM1 TWIST1 TBX4 BCORL1 MYH11 ZEB2 LETM1 CASK FIBP NXN DCHS1 MAF RAF1 RAI1 GNE TMCO1 BUB1B RRAS2 SUZ12 SLC26A2 RERE FGFR1 MYOD1 VAC14 ATRX TGFBR2 KIF7 PTCH2 AUTS2 SMAD4 RUSC2 SOST DOCK3 CSPP1 CCBE1 LRRC8A MOCS1 CPLANE1 PEX6 TMEM67 FLNA TRMT1 RPS7 POLR3A MTOR FGFR2 PPP2CA FOXC1 CHRNA1 B3GAT3 ALG13 FOXC1 NBAS IRX5 RSPRY1 FRAS1 RPS6KA3 PPP2R1A FANCL SPART CNOT3 PGAP3 RPS29 CSPP1 KNSTRN TMEM216 PEPD BRAF PTCH2 TCF3 RPL11 ZMPSTE24 FIG4 PACS1 KATNIP PPP1CB DDX59 PLCB3 PYCR2 RIPK4 MAP3K7 FZD2 PIGY NOTCH3 B4GALT7 CCDC47 GPC4 PACS1 TAC3 SHOC2 FGFR2 SIX2 CHD7 RPGRIP1 RPS26 FGFR1 GLI3 HS6ST1 THOC2 LOX PIGN TGFBR1 RB1 SPART ANOS1 SIK3 SMC1A CHRNG KIFBP ESCO2 RPL5 TONSL BNC2 KCNH1 MYH3 ADA2 PARS2 DNMT3B EFNB1 WASHC5 CTU2 KCNN3 FGFR3 ATP6V1B2 CHST3 AMER1 ALX4 KIAA0753 ATP6V0A2 ARVCF AKT3 ATRX GALNT2 TWIST2 PGAP2 SLC26A2 RECQL4 MKS1 TACR3 FANCF EHMT1 KLHL7 POR ZIC2 RECQL4 FGFR1 ODC1 RPS6KA3 WHCR MAP3K7 FGFR2 FGF17 CEP120 TPM3 CDCA7 DICER1 BCL11B EBF3 TMEM231 XRCC2 LRP5 NF1 COLEC11 OFD1 ATRX KISS1 RSPRY1 FLNB PHGDH PAFAH1B1 HRAS RUNX2 TCTN2 CD79B KMT2A FBN1 CCDC22 TBC1D24 INSR SRD5A3 NRAS MAP2K2 BLNK PHACTR1 MED12L MYT1L MYPN PRKG1 TBC1D24 MPLKIP CEP290 NSMCE3 SUFU CCDC22 FZD2 NONO TRIO ASXL3 EXT2 RPL35A OFD1 FGFR3 GPAA1 COG1 EZH2 MCTP2 ACTA1 NSUN2 EP300 TGFBR2 TRAPPC9 ZSWIM6 BRCA1 AP4S1 LMBR1 ACOX1 RAPSN PDE6D ZSWIM6 PDHX GLE1 MAP3K7 FIG4 CC2D2A ASXL1 WDR35 GREB1L TNFRSF11A RIT1 TRAPPC9 BGN TXNL4A PRKAR1A CHRNA7 MAP2K2 SLC29A3 DDR2 GNE TBX1 LRP4 SPRED1 OSGEP SMAD4 WAC IFT43 HNRNPU SOX6 PACS2 LAGE3 NSMF BMPR1A TMCO1 HELLS ELN COX7B SKI ERCC2 PGAP3 FGD1 ASXL2 ADAMTS3 PIGL DLX4 GNRH1 TP53RK ADAT3 GPC4 FLNA COL27A1 CBL SMAD3 DVL3 GBA CC2D2A KDM1A KLF13 TCOF1 ESCO2 CDH1 TBX2 KCNH1 RPGRIP1L NGLY1 PPP2R5D MAD2L2 INTS1 RFWD3 FGFR1 PEX3 BCORL1 PTCH1 TWIST2 FRAS1 MED12 CTBP1 NSD1 GATAD2B ANTXR1 NKX3-2 TBCD WDR73 BRCA2 FOXP1 ADAMTS3 TBX1 FGFRL1 KIAA0753 DCHS1 FGFR2 ALG8 PRKAR1A CHD8 KCNMA1 A2ML1 SETBP1 USB1 STAMBP HACE1 LRP4 FLNA FGFR2 RPS10 CTCF FOXP1 DDX3X POLR2A RNF113A MAF ALG9 TMEM237 SMO MED12 CHD7 RET SKIV2L CEP55 KCNH1 IQSEC2 PEX5 RSRC1 GTF2H5 B9D1 RPS28 ERF DUSP6 RNU4ATAC ZEB2 SIM1 TANC2 ITGA3 CAMK2A DOCK6
Protein Mutations 4
R352W R404C T93M V326L
SNP 0