SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R352W

Developed by Shray Alag, 2020-2021.
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 --- --- R352W ---



HPO Nodes


HP:0000175: Cleft palate
Genes 904
KMT2D SMARCB1 RPS7 PROK2 B3GLCT KCNA1 FEZF1 HSPG2 ACTB HS6ST1 INPPL1 TCOF1 KCNK9 CHD7 OFD1 WNT7A EFTUD2 PHGDH PGAP2 ARVCF SIX3 FANCM RPS15A WDR11 NELFA RREB1 NID1 LETM1 CTCF MAFB USP9X WDR35 EFTUD2 MSX2 ARHGAP29 PIEZO2 HYAL1 CDC45 BUB1B FLRT3 PROKR2 EBP FOXH1 TP63 CDC6 BRIP1 RPL26 IL1RN BRAF SEC24C COL11A1 HSPG2 DDX59 TBX1 B3GALT6 PGAP2 SATB2 FANCG GMPPB RYR1 PEX2 FOXH1 KMT2C KLHL41 MAPRE2 FLNB KATNIP NIPBL FLNB ITGA8 CEP290 COL11A1 GAS1 PROP1 SLC26A2 WASHC5 FOXC2 KRAS GJA1 GMNN DGCR8 BMPER IL1B HYLS1 SUFU SPECC1L HNRNPK FGFR1 FLNB KIF14 DAG1 HOXD13 FGFR2 SLC10A7 TRRAP PPP3CA CDON FKTN ADA2 INTS1 FGFR1 IGF2 SNRPB DISP1 MAP2K2 SPECC1L SMC3 FGFR2 COL11A2 FLNA AMMECR1 COL11A2 NEK1 MED25 SOX6 LIG4 RPL35 SOX3 FANCL CPLX1 GNRHR TDGF1 TAPT1 TMEM216 PSAT1 FGF9 GLI2 FGF8 POMT2 TBX15 KIAA0753 SLC26A2 COL11A2 ESCO2 BMP4 KMT2A FANCF COL11A1 ARNT2 RPS19 PNKP UBB FGF8 SNRPN DISP1 TP63 GNAI3 TGFBR2 IFT140 STAG2 SIX3 COL2A1 PEX7 ALX4 PGAP3 ZIC2 COL11A1 MAF KCNJ2 FLNA MSX1 ALG3 FGF8 TCOF1 TMEM216 SHH FANCI DLG1 CHRNG NODAL NOTCH2 PORCN CEP57 RPGRIP1L ZIC2 RAD21 TBX22 PIGV DOK7 FGF8 DLL1 TBX6 CPLANE1 KDM6A GPC3 B9D1 CASK TCTN3 DGCR6 INTU CYP26C1 CDON FGF20 PQBP1 CHD7 CCDC141 FANCA SIK1 RPS19 CDKN1C OTX2 GAS1 MAP3K7 PTCH1 CDH11 EPG5 GLI2 LBR PLCB4 ARID1B PPP2R5D TP63 RB1 BCOR TCTN2 SF3B4 CARS1 DSE DHODH CD96 CILK1 NSUN2 SPEG TUBB RUNX2 IGBP1 BRAF OTX2 DDX59 ESS2 MKS1 RBM8A MEIS2 EXOC6B RPS26 EDN1 POMT2 MID1 TP63 RPGRIP1L CHSY1 PIEZO2 PIGL TP63 SLC2A10 SPOP RET JMJD1C COL2A1 GLI2 BUB1 MYOD1 PALB2 ZEB2 NEK1 TBX1 COL2A1 STAMBP DGCR2 FKRP KAT6B COL11A1 LOXL3 KIAA0586 FOXA2 SATB2 CDH11 COLEC11 TP63 SMCHD1 FANCC HESX1 PIGL RPL5 IRF6 PTCH1 GLI2 CDKL5 RPS10 COL9A3 TBC1D24 TTC37 PIGO COL4A1 C2CD3 MEOX1 TMEM216 MCTP2 SMAD3 GNB1 FGFR1 SOX10 ATN1 BRCA2 ERCC5 NUP107 PTCH1 SMOC1 HNRNPK SEPTIN9 TUBB MUSK IQSEC2 RAPSN MUSK KIF7 LRRC32 BUB1B SMARCC2 DEAF1 LMNA TXNL4A GRHL3 STAC3 COL11A1 CDH1 CHRNA1 CHST3 FOXH1 FOXP2 FGD1 EDN1 TGIF1 ESCO2 TGFBR1 ARCN1 PIGV CC2D2A EFNB1 NBN POLR1B SLC26A2 OTX2 CC2D2A PLXND1 TGIF1 STAT3 DUSP6 IL17RD FANCB NECTIN1 PRRX1 RNU4ATAC SIX5 GLI2 SLX4 IRF6 SMAD4 PGM1 CDT1 HMGA2 CCDC141 RECQL4 ATR RPL31 SIX1 FGFR2 RPS26 WDR26 GAS1 TRIM8 CCDC22 RPL5 MKS1 WNT4 RPS27 SMS PTCH1 TFAP2A RPS24 LARS2 RPL35A GLI3 TMEM67 COL2A1 UFD1 SHH AHI1 UBE2T PLAG1 CHRNG ATRX SF3B4 SMS ACTG2 RUNX2 GLI3 DLL3 PTCH1 RECQL4 TDGF1 YAP1 MYOD1 RAI1 HNRNPK PIGY TGIF1 STXBP1 ZEB2 PIGO SMC1A BPNT2 EYA1 PROK2 ALX3 ERCC4 SMARCD1 SOX2 SIX3 TELO2 CENPF TWIST1 SMC3 TDGF1 FLNA GATA1 GLI2 NFASC RAPSN DLL1 RIPK4 CDON TSR2 POLR1A WNT5A SHH BMPER DPH1 SIX3 SOX9 CEP41 COL9A1 HDAC8 CHD7 POLR1C STAG2 EYA1 BUB3 HES7 FOXC2 RBM10 FGFR2 GDF6 TRIP13 ORC1 FGFR2 MYH3 BCR DVL3 SELENOI DLL1 COMT KAT6A DLX4 TRPV4 NODAL NECTIN1 LARGE1 CYTB KDM6A GLI2 WNT3 TGIF1 RIPPLY2 NODAL FOXE1 NODAL DHCR7 TBCE POMT1 RTL1 TACR3 ARID2 SATB2 ASXL1 SHH PQBP1 ARID1B FGFR1 ARX SETD5 TBX2 SPECC1L TP63 SHH PTDSS1 EIF2S3 LMBRD1 GJB2 FZD2 CTBP1 SNRPB CEP120 COL11A2 NEB MEGF10 IRF6 RAD21 SOX4 MYH3 PSAT1 SLC26A2 FGFR2 RAD51C SUFU DLL1 FGF8 GAS1 B3GLCT FKRP BMP4 CPLANE1 FGFR2 PLCB4 HIRA GP1BB ZMPSTE24 DLL1 SIX3 TMEM67 ARID1B GNRH1 RXYLT1 RPL11 TGFBR1 PRDM5 SEPTIN9 ORC4 SOX11 MSX2 COL11A1 USP9X GRHL3 RPL27 COL2A1 MYH3 CDON SON COL2A1 DVL3 RPL11 HESX1 KIF7 WNT4 COL2A1 ALX1 FAM20C TCTN3 SOX9 PTPN11 MEOX1 GJA1 MSX2 ZC4H2 POLR1D TDGF1 RPL15 IRF6 FANCD2 SHH GPC4 ARHGAP31 MAPRE2 CHST14 ZIC2 G6PC3 NFIX DLX5 DISP1 SPRY4 FGD1 MED25 FOXH1 FLNA SEMA3E ARID1A COL11A2 FRAS1 NBN FLNB POU1F1 LHX4 ECEL1 INPP5E CEP55 FGF17 SLC26A2 FGFR1 ORC6 FGFR1 FGFRL1 HOXA2 ZNF469 POMGNT2 MASP1 KMT2D XYLT1 SALL4 NEDD4L CSPP1 CTNND1 KRAS ZSWIM6 GATA3 ZEB2 ARID2 CHN1 CDC45 RPL18 COL2A1 EYA1 COLEC10 B3GAT3 RAI1 SH2B1 MECOM SON COL2A1 ACBD5 TBC1D24 DMXL2 CHRNG NUP88 BIN1 FLNA FKTN TBX22 PTCH2 SMO SMARCA4 NECTIN1 TMEM231 FANCL ASXL1 DHCR7 GDF3 NSD2 NUP107 HS6ST1 DPF2 AMER1 KIF7 TWIST1 CEP290 RIC1 FLNA FGFR2 PTCH1 ORC1 ZSWIM6 PIEZO2 SATB2 NSMF FGFR1 POLR3A SMARCD1 TWIST1 PIGW SMOC1 TTN TMEM231 SCARF2 FOXH1 OFD1 KLHL7 CDON TP63 RPL26 COG1 PHGDH BGN STAG2 EARS2 ANOS1 DVL3 KDM6A RBM10 PHF8 CTCF TGDS DISP1 FGF8 TACR3 KANSL1 TMEM107 MAPK1 NIPBL MESP2 SMAD4 RPS28 DLX4 WDR11 FGFR1 TGFBR2 TBR1 MYMK ZIC2 SPRY4 FLNB COL9A2 PIGN MED12 TGDS FKBP14 RPS17 KIF7 B3GALT6 NSMF CEP120 STAC3 SELENOI PIGL TBX1 KCNN3 PIEZO2 PDE6D TBX1 B9D2 PGAP3 FOXE1 DONSON TAC3 FANCE REV3L FLNB TMCO1 NSD2 POLR2A KISS1 PEX5 CDH1 POLA1 LMNA B3GALT6 SIX3 RIPK4 B9D2 BRCA1 B3GALNT2 STAG2 CRKL POLR1D SEC23A SIX1 FAM149B1 HS6ST1 ALX3 HESX1 SLC25A19 YAP1 TGIF1 NEUROD2 MSX1 MBTPS2 SEMA3E EDNRA CDON GNAI3 B4GALT7 TBX1 SLC18A3 WDPCP KISS1R GRHL3 FGFR1 PIGP DDX3X MEG3 HAAO MAP2K1 MKKS RPS23 ZIC2 FLNA DYNC2H1 RPGRIP1 COL2A1 TMCO1 DVL1 LARGE1 OFD1 FAM20C GPC3 KCNN3 EIF4A3 TGFB2 CHD7 FGF8 SIX1 PROKR2 SMCHD1 MAD2L2 TMEM237 DCC ANKRD11 TCTN3 SMC1A POMT2 GLI3 POLR1C FOXF1 TDGF1 CHST14 SLC35D1 SOX9 SMARCE1 UBB SEMA3A PTCH1 SLC35D1 RPGRIP1L TBX22 KCNH1 TBX4 FAM50A GLI2 GAS1 ALX1 B4GAT1 ZMPSTE24 GNB1 DHODH ANOS1 DYRK1A PAX3 TGIF1 BCOR SCN2A LMX1B KISS1R SMAD3 RIPK4 FTO NSMF GMNN AMER1 IRF6 SETD5 POMGNT1 CRPPA OFD1 XYLT1 SCN1B WDR35 POMK CHD7 SUMO1 MKS1 POMT1 RAD51 DUSP6 DHCR24 HYLS1 NPHP1 CREBBP CHRND SMPD4 XRCC2 GRHL3 RECQL4 GREB1L VAX1 SLC25A22 LETM1 GDF6 COL2A1 MYMK C2CD3 RFWD3 MBTPS2 NDNF WHCR GPC4 RECQL4 FGFR3 DLK1 PROKR2 PIGN DVL1 MAP3K7 MIR140 RPS29 GNAO1 NODAL HDAC8 PROKR2 KIFBP MID1 MEIS2 ATP6V1B2 FLII CDH1 BMP4 DHCR24 IRF6 WASHC5 TCTN2 LFNG TGFB3 SLC39A13 FGF17 COL11A1 PIGQ DISP1
Protein Mutations 4
R352W R404C T93M V326L
SNP 0
HP:0000316: Hypertelorism
Genes 1011
MAT2A FIBP RPS7 PDHX SIX2 PROK2 B3GLCT BPTF HSPG2 TWIST1 C12ORF57 ALG9 CHD7 OFD1 TGFBR2 RASA2 PHGDH PEX3 SLC25A24 ATP6V1A CTNND2 PSAT1 PGAP2 ARVCF ZIC1 CCND2 PPP2R1A FANCM SLC2A10 RPS15A ANTXR1 PACS1 NELFA RREB1 LETM1 CTCF FBXO11 PIK3CD PAX3 DSE ANTXR1 ERMARD SETBP1 CCNK KCNH1 RPS6KA3 RIT1 ZIC3 EBP NXN TARS1 NF1 KNL1 HBA1 BRIP1 ACTL6B RAC3 PIK3R1 BRAF SEC24C FGFR3 MEF2C FIG4 DDX59 EXT2 ZIC1 NSD1 COL3A1 KIF7 PIGA FANCG FOXC1 PEX2 SUZ12 FAR1 FLNB DICER1 KATNIP ATP6V0A2 RRAS2 FGFR1 COX7B ZIC2 SIN3A FLNB PITX2 ITGA8 SOST PTRH2 KMT2A COL11A1 SLC12A6 SHOC2 WASHC5 TRIO KRAS ACTB ACTA2 NEB KMT2A PDE4D ADAMTS3 SLC25A24 SPECC1L FGFR1 TPM2 FGFR2 TRRAP FGFR2 PALB2 NRAS RNU4ATAC GPC4 GK RELN ADA2 INTS1 CBL ATP6V1E1 VPS51 MAP2K2 FGFR2 ZMYND11 FLNA SPECC1L MED25 SOX6 LIG4 GLE1 THRA NF1 RYR1 DNMT3B RPL35 PPP2R5D FANCL CNOT3 CPLX1 EMC1 GNRHR TAPT1 TMEM216 PSAT1 ERF KIAA0753 HRAS NGLY1 MYH11 SPINT2 MAF SMG9 MAPK8IP3 ZBTB24 HBA2 KIAA0753 LRP5 ESCO2 CCBE1 FGFR2 AGA TRIM37 TAF1 SOST DHX37 FANCF PIK3CA INTS8 RPS19 FLI1 CHD8 SLC29A3 SNRPN TGFBR2 KRAS SLC45A1 DOCK6 GLI3 NBAS QRICH1 PGAP3 CCBE1 FOXC1 PTDSS1 WDFY3 CDC42 GJA1 FREM1 POLR3A SKIV2L MAF KCNJ2 FLNA ACY1 CAMTA1 BRAF TCOF1 CASK FANCI CHRNG SPART CNTN1 TFAP2B NOTCH2 SKI SALL4 SEC23A MRPS14 PIK3R2 GALNT2 EZH2 PIGV DOK7 RERE POLR1A FLNA CPLANE1 GPC3 WNT5A B9D1 TCTN3 TTC7A INTU FGF20 DDX6 DVL1 FANCA ABCD4 SPRED1 EED SOS1 RPS19 TONSL CIT PPP1R12A FBXW11 MAP3K7 MAN2B1 OGT FGFR1 TPM3 CDH11 EPG5 LBR PPP1CB WAC ARID1B APC ZBTB18 BRAF CBL WDR73 UMPS KIAA1109 DSE PEX1 RMRP PRKG1 NSUN2 TCF20 EXOSC9 TUBB RUNX2 BRAF PLP1 DDX59 ANKH MKS1 AUTS2 RPS26 MID1 ELN BRAF TWIST2 TBCE ODC1 CHSY1 FBN1 PIGL SLC2A10 SPOP RET CHRNA7 JMJD1C SHANK3 PALB2 ERF ZEB2 MAN1B1 TBX1 IL11RA ATRX STAMBP KLF13 EZH2 SUFU MPLKIP LZTR1 SOS2 CDH11 PSMD12 COLEC11 FGFR2 KLHL41 FANCC PEPD ITGA3 PIGL MYT1L RPL5 HMGA2 ZBTB24 EP300 RIT1 SPART TASP1 CDC42 RPS10 TBC1D24 HERC1 TTC37 PIGO LTBP4 MAP3K7 VAC14 TMEM216 MCTP2 BPTF SMAD3 IGLL1 SIN3A FGFR1 TBCE BRCA2 NSUN2 ZMIZ1 PTCH1 WDR4 RNF113A BRAF IGHM RAF1 MUSK TRIP4 IQSEC2 PYCR1 RAPSN MUSK ATRX BRCA1 BUB1B DEAF1 NKX3-2 LMNA TXNL4A PSMD12 BRPF1 DNMT3A COL11A1 SRD5A3 CDH1 CHRNA1 CHST3 ALX4 LOX BPTF FGD1 PPP2CA FGFR2 PTPN11 ESCO2 TGFBR1 PIGV IFT43 FGFR2 NKX2-5 EFNB1 FLNA CC2D2A BCL11B WAC FBN1 SETBP1 DUSP6 FANCB FIBP PEX6 ZMIZ1 FZD2 SLX4 LRP4 FREM1 PIGB DNMT3B TRAPPC9 RECQL4 ATP6V0A2 RPL31 A2ML1 LEMD3 FGFR2 ITCH CCDC22 RPL5 COLEC11 RPS27 DOCK3 SMS TFAP2A RPS24 RPL35A FGFR2 TMEM67 UFD1 PDE4D KBTBD13 RAF1 INPPL1 HNRNPH2 UBE2T GBA KAT6B CHRNG ATRX SMS ACTL6B FGFR3 RUSC2 MED13L RUNX2 EED TGFBR1 ASXL2 PAX3 UBE2A MYOD1 RAI1 FREM2 PIGY HELLS ZEB2 PIGO MAP2K1 ALX3 ERCC4 CTU2 TELO2 TWIST1 CENPF TWIST1 SHROOM4 NUP107 COG1 TBX1 TP53RK FLNA GATA1 NFASC RAPSN MASP1 TSR2 WNT5A BMPER DPH1 MYLK TMEM94 PIGG LAGE3 SOX9 TGFB3 COL1A1 CHD7 POLR1C TNFRSF11A ALG13 GPC4 AVP ATRX ZBTB18 NKX2-6 RBM10 NSD1 FGFR2 FGFR2 BMPR1A DPM1 TCF12 FGFR2 MYH3 GATAD2B RSRC1 ALDH18A1 SNAP29 DVL3 FREM1 AHDC1 ALG9 NOTCH3 CENPJ SH3PXD2B COMT BLNK ANKRD11 NTNG1 DLX4 FOXP1 CDK19 WDPCP ROR2 AUTS2 IRX5 IL1RAPL1 PIGN NXN SUFU FGFR2 GNE FAT4 GNE USB1 ATP6V0A2 DHCR7 EPG5 INSR NEB PAFAH1B1 CASK TACR3 ASXL1 MTOR RLIM OSGEP TBX2 SPECC1L SPECC1L PTDSS1 MED13 AKT1 FZD2 ATP6V1E1 CTBP1 PEPD COL11A2 NEB CACNA1G CHST3 CPLX1 PSAT1 ANKH SLC26A2 FGFR2 RAD51C SUFU B3GLCT PRPS1 CPLANE1 AP4S1 FANCD2 FGFR2 PLCB3 ALDH18A1 MYT1L HIRA ACTG1 GP1BB SVBP FRAS1 PMM2 NRAS ZMPSTE24 CDH1 HSD17B4 PTEN FUCA1 EXTL3 GNRH1 THOC2 PAX3 TGFBR1 ACTB SIK3 COL11A1 SEMA5A SHOC2 RPL27 KLHL41 DVL3 TCF3 CTNND1 VSX1 RPL11 COLEC10 CAMK2A ALX1 SUFU TBL1XR1 FAM20C TCTN3 SOX9 AKT3 HPDL PTPN11 GJA1 FAT4 DDR2 TTC37 TWIST2 POLR1D MFAP5 KNSTRN PACS2 RAF1 ACTA1 RPL15 KMT2E NF1 MED13L GRIP1 FANCD2 FAT4 CASK GPC4 MAPRE2 CHST14 TANC2 FLNA COL27A1 FGF3 TPRKB FGFR2 KRAS MAP2K2 ERF KCNH1 FGD1 CDK13 MED25 FLNA SLC35C1 SEMA3E MED13 FRAS1 ADK RSPRY1 FLNB CEP55 RRAS LMBR1 SALL4 ADGRG6 PTPN11 MOCS1 SKIV2L SLC26A2 RPS6KA3 SMAD4 PHACTR1 FGFR1 FGFRL1 DPH1 MASP1 SOS2 ADAMTS3 BRCC3 WDR73 WDR37 CDK10 GLI3 CSPP1 CTNND1 TMEM216 DCHS1 ZSWIM6 MEGF8 DCHS1 ZEB2 PIK3R2 RPL18 COL2A1 DNAJC21 COLEC10 B3GAT3 RAI1 SH2B1 YWHAE LBR MRAS TBC1D24 CHRNG KIF15 NUP88 FIG4 PRMT7 FLNA ELN KIF7 LRRC8A PTCH2 TGFB2 TMEM231 FANCL ASXL1 DHCR7 MRAS ROR2 KIAA0586 C12ORF57 NSD2 AMER1 XYLT2 KIF7 TWIST1 CEP290 FLNA TBCD FGFR3 DDX6 RPL35A FGFR2 MMP2 GPAA1 TMEM138 CHD4 CHST3 ZSWIM6 PITX2 TBL1XR1 HELLS ODC1 POLR3A SMARCD1 TWIST1 AFF4 BCORL1 PIGW CDCA7 ALG13 TMEM231 OFD1 KLHL7 PTPN11 RPS7 PTCH2 LRRC8A TXNL4A RPL26 COG1 PHGDH ACTG1 FLNA TENM3 BGN ANOS1 TBCD DVL3 PYCR2 GATAD2B STRADA PSMD12 TBX15 ASXL3 SLC1A4 TRIP12 RBM10 CTCF FGF8 PPP1CB KCNMA1 FGFR1 TMEM107 ACTB SMAD4 RPS28 HRAS WDR11 NOTCH3 FOXE3 TGFBR2 RAI1 TBR1 KIF7 LRP2 FLCN SPRY4 NONO FGFR3 PIGN COL1A2 MED12 TGDS CCDC47 ADAT3 MAN1B1 EIF2AK3 NALCN RPS17 KIF7 PTRH2 FAM111A CEP120 GJA1 PIGL TBX1 KCNN3 AIFM1 PIEZO2 ALX4 CREBBP PDE6D ATP6V1A TBX1 ACY1 ATRX EFEMP2 PGAP3 BMP2 COL2A1 HERC1 PRKAR1A TAC3 FANCE POC1A EHMT1 FLNB CSNK2A1 MTOR FOXP1 TMCO1 KDM1A MN1 NSD2 FH POLR2A NF1 KISS1 PEX5 TWIST2 TPM3 LMNA PPP2R1A RIPK4 B9D2 BRCA1 LRP4 SEC23A CCDC22 STAT3 FAM149B1 SH3PXD2B TRAPPC9 HS6ST1 ALX3 RPS6KA3 SEMA3E B4GALT7 TBX1 SLC18A3 WDPCP ALG8 CD79A PIK3R1 HNRNPU DDX3X SMC1A RAF1 ASXL3 MAP2K1 CD79B BCL11B ACTL6A MYPN FLNA SMAD3 ERCC2 RPGRIP1 TMCO1 DVL1 EXT2 SMO NF1 OFD1 NUP133 TFAP2B PHIP GPC3 TGFB2 ACTA1 LRP4 FGF10 SMCHD1 MAD2L2 POR POGZ CDCA7 ANKRD11 TCTN3 GLI3 RB1 CHST14 GLB1 HACE1 PARS2 LRPPRC RPGRIP1L KCNH1 ACOX1 SOS1 ALX1 NRAS SEC24D ZMPSTE24 FGFR3 MOCS2 EHMT1 TCIRG1 SET NSMCE3 PEX6 WARS2 EBF3 TPRKB KISS1R PTEN SMAD3 EFNB1 FBLN5 RIPK4 GTF2H5 FAT4 LRP2 NSMF ALG1 OSGEP CSPP1 MYH3 OFD1 MED12L WDR35 CHD7 ALX4 CDH2 MKS1 SKI RAD51 CHRND BNC2 CHD3 XRCC2 FGFR1 SNAP29 RECQL4 GREB1L PACS1 TRMT1 PTCH1 ANK1 GLI3 GATA6 JAG1 RSPRY1 LETM1 TBX4 TP53RK RFWD3 APC NFIX PPP3CA WHCR GPC4 ITGA8 FGFR3 PRKAR1A ALDH6A1 AHDC1 LZTR1 PIGN PTH1R DVL1 TMEM237 MAP3K7 SETBP1 MIR140 RPS29 BCORL1 GTF2E2 PYCR1 TRAPPC4 MED12 FBN1 HDAC8 PROKR2 KIFBP MID1 ATP6V1B2 FLII KREMEN1 ABCC9 ERCC3 WASHC5 ACOX1 TCTN2 TGFB3 TMEM67 SLC39A13 FGF17 RLIM DPF2 SUZ12 MARS2 FGFR3 UBE3B FGFR2
Protein Mutations 4
R352W R404C T93M V326L
SNP 0