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Report for Clinical Trial NCT00005541

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Hemochromatosis and Iron Overload Screening Study (HEIRS)

To determine the prevalence, genetic and environmental determinants, and potential clinical, personal, and societal impact of iron overload and hereditary hemochromatosis, in a multi-center, multiethnic, primary care-based sample of 100,000 adults. The study is conducted by the Division of Epidemiology and Clinical Applications of the NHLBI, the Division of Blood Diseases and Resources of the NHLBI, and the Ethical, Legal, and Social Implications (ELSI) Research Program of the NHGRI.

NCT00005541 Blood Disease Hemochromatosis Iron Overload
MeSH:Hematologic Diseases Hemochromatosis Iron Overload
HPO:Abnormality of blood and blood-forming tissues



There are 2 SNPs

SNPs


1 C282Y

Evidence suggests that early diagnosis and treatment can prevent disease manifestations and enable normal life expectancy The discovery of the HFE C282Y and H63D variants in the HLA gene region on chromosome 6 provides an opportunity for early and rapid genetic identification of individuals at risk for development of hereditary hemochromatosis. --- C282Y ---

In order to obtain data on the prevalence of genetic factors in a routine care population, a random subgroup of approximately 20-40 percent of the 101,000 screenees will be genotyped for known variants, such as HFE C282Y and H63D, related to iron metabolism and overload. --- C282Y ---


2 H63D

Evidence suggests that early diagnosis and treatment can prevent disease manifestations and enable normal life expectancy The discovery of the HFE C282Y and H63D variants in the HLA gene region on chromosome 6 provides an opportunity for early and rapid genetic identification of individuals at risk for development of hereditary hemochromatosis. --- C282Y --- --- H63D ---

In order to obtain data on the prevalence of genetic factors in a routine care population, a random subgroup of approximately 20-40 percent of the 101,000 screenees will be genotyped for known variants, such as HFE C282Y and H63D, related to iron metabolism and overload. --- C282Y --- --- H63D ---



HPO Nodes


HPO:
HP:0001871: Abnormality of blood and blood-forming tissues
Genes 1877
TCAP CTC1 KLKB1 TET2 RPS27 MYH9 SLC25A38 COL1A1 COL5A1 TCF4 RPS24 SERPINF2 ALX4 MPL TSR2 EXT2 EFL1 ATM CAP2 SDHC BCL10 OTULIN CD8A OCRL CHD7 FOXP3 PROS1 ASXL1 PRKCD PLEKHM1 SETBP1 FCGR2C GCDH MALT1 PKLR SERPINC1 THBD SLC4A1 ERAP1 FLI1 CYB5R3 F5 GGCX DNASE1L3 SUFU FOXP1 TGFB3 PIEZO1 VWF KLF1 PGK1 VPS13B LOX CTRC EGLN1 SOS1 GINS1 EIF2AK3 MECOM FASLG GP9 F2 TNFSF12 KIT LMNB2 NDUFS3 AEBP1 GNE XRCC2 SLC29A3 EPO COX6B1 SPTB VHL SGPL1 GNB1 SRD5A3 CBFB SPARC MLH1 AEBP1 EPHB2 TGFBR3 NHP2 CLPX NFKB1 FCGR2B F13B TRNS1 PTEN PTPN11 MPL PRLR NUTM1 STAT3 TEK SERPINF2 FBN1 STAT3 SSR4 FKTN TPMT SLC2A1 PARN NRAS VPS13A GBA SSR4 LEPR BLM ACVRL1 KRT14 ANKRD11 SH2B3 DNMT3B RAD54B IFNG RPS19 RPL35A HLA-DPA1 GUCY1A1 SDHB CXCR4 GPI ECHS1 AKR1D1 ACD MPL RUNX1 MAN2B1 ACSL4 HBG1 MVK PROS1 STAT1 FN1 JAK2 AMACR PFKM GP1BB KCNE5 GATA1 BRCA1 ZBTB24 RFWD3 PIK3R1 HBA1 NDUFS2 TGFB3 RPS28 COL4A2 COL7A1 JAK2 MPI SMPD1 RPS17 ABCA1 ICOS NUMA1 DKC1 LIG4 NBAS ITGB3 ND5 SDHD PEX3 SMAD4 BCL6 MYC STAT5B GBA LMAN1 PMM2 JAK2 NTHL1 FLNA STIM1 HOXA11 VHL MRPS7 EPHB4 MMUT TGFB1 BRCA2 F13A1 SCN5A SLC17A5 ORAI1 GFI1B NABP1 PUS1 SLC19A2 NSUN2 PHKG2 CYP2C9 NBN KRAS TXNRD2 STAT3 PEX1 SRC PRF1 EOGT PHGDH HLCS FERMT3 LAMB3 ATM COL7A1 MYH9 THPO NDUFA10 TERT TF MECOM PIGT NPM1 NDUFS1 ITGA2 KCNJ11 KIT SLC4A4 LPIN2 CASR TPP2 COL4A5 CD3G NDUFAF3 ABCG8 CASP10 CYB5R3 RBM10 SLC46A1 UBE2T TACO1 COL7A1 RNASEH2B NDUFA9 GSS SMAD4 F10 PSTPIP1 BCR CD79B RPL18 RPS26 IKBKG FAH COX20 GATA6 FANCE RIN2 ARF1 HBA1 KIF11 RFX5 NPHP1 CHD7 OCLN TPI1 MPIG6B GNAS CLPB PSAP FOXRED1 CARD9 PHGDH SLC35A1 CARD11 RRAS NOD2 APOB SDHC HTRA2 SLC19A2 BAG3 RIN2 LYST RPL5 GP9 TCF3 FECH CACNA1S HLA-B CIITA HAMP CDAN1 PROC CBL ADAR GTF2E2 PLG RPS17 PARN COL3A1 RFXANK BMPR1A STX11 TET2 GALC ADA2 HNF1A SH3GL1 TTI2 IL23R PMS1 FGG RFXAP COL4A1 FLNA PRF1 COG1 MTAP FANCA MSH6 AMN NDUFA13 COL5A2 SERPINC1 PRLR CD151 MYH7 TONSL GTF2H5 PIK3CA FANCM KCNE1 GGCX VHL ABCA1 CAPN3 PIEZO1 ARHGAP31 RBM8A PSEN1 CTLA4 RPS15A HELLS GFI1B EPCAM NF1 HPRT1 TRIP13 MPLKIP RAG1 MYLK RASGRP1 MLLT10 MTHFR PDHA1 F5 TNFRSF11A IL10RA PCNT HLA-B CTRC SMARCD2 PLOD3 SPTA1 PTPN22 SLC17A5 KCNJ11 F12 TFR2 TREX1 BTNL2 SLX4 TNFRSF13B OPA1 NEXN CYBA GATA1 ADAR DKC1 ARPC1B FGB VPS45 ALG12 SCO1 CR2 VWF SMAD3 GATA1 RPS15A APOE FANCI LYST TET2 STT3B ATOH7 ABCC9 HBG2 MMP1 RPSA HBB PDX1 JAK2 COL17A1 LYST HBB RNASEH2A PIK3CA C2 CIITA SFXN4 RET PEX16 HBB-LCR CYP7B1 BRD4 GNAS GSS A4GALT F13A1 TTC7A FLNA FARSB GATA1 KRT14 HNF4A MLH3 CLCN7 CLPB GDNF TAF1A GBA CBLIF ALG2 GATA2 ARL6IP6 G6PD TERT IL2RG KLF1 RNASEH2C SRP54 ABCC8 SLC20A2 CYP2A6 IGHM FOXN1 SLC2A1 TAZ TMPO NOTCH3 CYP4V2 SCARB2 CD70 SPINK1 MUC1 FAM111A RAB27A NOTCH1 DPM1 RAG2 LAMC2 PEX12 NT5C3A RNU4ATAC IRAK1 DAXX MST1 RAF1 NHEJ1 TNFSF12 GNAS TRMU KCNQ1 ALAS2 PDE4D CBL TCF4 NHP2 SLC39A13 CCM2 APC DLL4 TERT DNAJC21 UNC93B1 CTSK HBB RYR1 AKT1 FLNA MVK G6PC3 ANK1 TEK NHP2 ETV6 CFH RIT1 UNC119 HBB RAG1 STEAP3 PPCS CDCA7 IGH CCND1 DCLRE1C VPS33B PGK1 F8 LMNA TRNQ PAX4 COL7A1 MDM2 COX8A PTF1A WAS ABL1 KDM6A FANCE ICOS SDHD LIG4 KIF23 HLA-DRB1 FANCF TET2 TSC1 SLC4A1 NDUFS2 STT3B ADA2 TGFBR2 GFI1 CFTR FOXN1 FANCD2 FKBP14 ATP11C VHL GLA CDC42 TERT ARMC5 SLC25A11 MAP1B BIRC3 STXBP1 ASAH1 RFWD3 NAXD GLA TNFRSF13B FANCL YARS2 F7 THRA GBA AKT1 RPL27 PLOD1 FIBP FLT1 COMT MVK GBA KIT MTFMT CFB WAS NFKB2 AK2 TMTC3 TGFBR2 UMPS CDC42 SLC4A1 TRNS1 FADD PARN DDOST CHEK2 COX1 LIPA ANGPTL6 GCNT2 GATA2 ACTN4 ABCB7 ZBTB16 FUCA1 BMPR1A ND4 CAPN5 KCNN4 PTEN TREX1 SLC2A1 GLB1 RPS27 RPS26 PTPN22 HYOU1 HPGD C1QA TGFB1 CBS SLX4 RAG2 PICALM TERC MMUT KCNN4 HMOX1 ENG BUB3 RYR1 FANCA DYNC2LI1 ELANE PET100 TERC CCR1 MAD2L2 MPDU1 ERCC2 KRAS FOXP3 CD3E CD19 KIT HLA-DRB1 GCLC COX14 CSRP3 ACAD9 FLT3 CRIPT CEP57 TREX1 CD3D WIPF1 SLC25A13 PEX12 TERC BCL11B TRNN NDUFV1 BLNK PTPN11 IL7R PDGFRB RHOH F5 CTLA4 RARA GPC1 F13B HLA-B NUMA1 KRAS TNFAIP3 JAK3 EPAS1 NDP GALT ITK PRKCD ABCD4 IDH1 RUNX1 FOXE3 ATRX CLCN7 GATA1 NPM1 COL1A2 PEX26 TAZ ANKRD26 LAMTOR2 ELN EPB41 TCN2 SLC12A3 PRDX1 WFS1 NRAS CISD2 GLRX5 LRRC8A COA8 SH2B3 OSTM1 CEBPA KLF1 FIP1L1 CPOX TRNT1 CALR SPTB TBL1XR1 TERT IL2RG MDH2 MMADHC ICOS FBXL4 MARS1 TNNC1 RASA2 GREM1 VCL ACP2 MMP1 NDUFAF2 ATP7B TP53 HBB TGFBR1 CLCN7 SCN11A SOS1 HIRA DPM2 TFAM CCBE1 APP ELANE NUP214 KMT2D SEC63 ADAMTS13 BUB1B NBN FANCF CARD11 CD36 PLVAP FAS PTH1R PDGFB CLCN7 ADAMTS2 WAS PCCB HLA-DPB1 ARHGAP26 DLST PGM3 POLE ADA PANK2 GDF2 RFXANK CYP26C1 UROD SIK3 SEC23B RPL31 TP63 HBG1 DNMT3B NLRC4 BMPR2 COQ2 PFKM BTK NBEAL2 EPOR ITGB4 TBX2 NDUFS4 RASA1 MAT2A CASP10 ATRX PRKCSH F9 SOS2 PIK3R1 RRAS2 COL3A1 CHST14 HAX1 GNAQ PRDM5 SDHB PRKAR1A ITGA2B SLC7A7 CYTB KCNQ1 CDH23 SAA1 ATP6V1A RASGRP2 LBR KCNJ11 CD79A ATRX ANK1 ATM RNASEH2B PRSS1 ETHE1 TNXB SPTA1 RTEL1 IRX5 GDF2 PMS2 GBA HBB HBB TSC2 GP1BB ATR ADA2 CASR SGCG PNP ETHE1 NPHP4 TP53 PSMB8 RAD51C LARS2 CYP11B2 TCN2 KIT AGA SMARCAL1 MYD88 APOE TRAC NPM1 IKZF1 PHKA2 GNAQ GLB1 HPS3 NDUFA2 KRT5 GATA2 TMPRSS6 PLEKHM1 BAP1 TP53 TNXB PGM1 GATA2 LMNA IKBKG ALDOB TGFBR1 CTLA4 IL12B MAX PRDM16 MYD88 ZNF341 ABCC6 IDH1 NDUFS8 TERT GATA1 BCL10 SPP1 CYBB CUBN PTEN NBEAL2 CCND1 NOP10 GP1BA SDHB MSH2 PLEC ABCB6 GLB1 UNC13D TRNW CCM2 JAK2 MMAB RET SDHA IGHM FZD4 ANK1 CFH LBR TAL2 NF2 HOXA11 ANO6 MYH6 NIPBL HBA2 CISD2 TET2 DOCK8 MPL CYCS CREBBP ATP6V1E1 IFIH1 GP1BA THBD SPATA5 SRD5A3 NDUFS7 EPG5 TBXAS1 ATP7A IL2RG MYORG IDH2 FLT3 TGFB2 NR1H4 MLX HLCS CD40LG ERCC6L2 GATA1 TTC37 DNM2 CFI IVD UBE2T BRAF NEU1 DOCK6 RBPJ SERPIND1 RNF43 HSD3B7 VPS33A CTRC TSR2 TRNL1 PNPO PLEC TP53 TINF2 MCFD2 ALG6 CR2 DSE CASK PDCD10 CD3D GBA ACTN1 TINF2 ZBTB20 TACO1 RPS20 RPL35A ACTN2 IL7R TCIRG1 BMPR1A CFI BMPR1A LAT ACVR1 CHST14 ADA MTRR TBX1 PEX11B B2M ND1 EPO MAP2K2 NFIX SAMHD1 INS HBB COL1A2 AIP CLCNKB COL4A1 RPS10 MTHFD1 COX2 FASTKD2 AASS BRCA1 UROS PIK3CD CORIN SBDS CD81 RHAG NCF2 CP TNFRSF1B RMRP RECQL4 B4GALT1 COG8 NPHP4 RHAG BCL11B SLC30A10 SPINK5 SMPD1 REN RPL35 CBS UBE2A LMX1B NDUFB8 FTCD FGG SPTA1 LDB3 MEFV SLC11A2 CA2 PSEN2 ALAD RAG1 RPL26 DCLRE1C F5 FGA STAT3 TAZ CYB5A SEC24C TSC1 RAF1 ELANE ACTC1 C1R APOA1 NF1 AGK ATRX ADAMTS3 TET2 UMPS SLCO2A1 RTEL1 TMEM67 FANCC HBA1 ZNF469 TNFSF11 SDHA RPS14 HAVCR2 MSH2 WRAP53 PEPD ACAT1 SPTA1 ACVRL1 PIGA RS1 COL5A2 DOCK2 KRIT1 NDUFA12 SNX10 APC GP6 GATAD1 FGB FHL2 NDUFV2 BCOR MTRR ALAS2 ERCC4 PIEZO1 SBDS VPS13A NFKB1 SDHD IFT140 GBA PTPN11 TREM2 MMACHC NPC1 FZD4 PEX5 SH2B3 MAP2K1 ERCC4 STIM1 FIG4 LAMA4 ITGB4 GLI1 PSMB4 HPS1 DNASE1 HBA2 ALDOA MTTP TET2 LRP5 CALR SRSF2 RPS7 NDUFAF6 PEX10 NPHP1 RPL15 FMO3 MMUT RAC2 F11 KIF1B RAB27A SLC2A10 RREB1 SLC2A1 SLC19A3 CST3 MPL SLC35A1 FANCC CD46 PGM3 F9 SLC4A1 SLFN14 LRP5 NFKBIL1 CYP4F22 G6PC RPS7 F11 MCM4 ABCC2 HLA-DRB1 AMMECR1 SERAC1 ABHD5 TICAM1 SARS2 SBDS TERT GP1BB EFL1 COX4I2 STING1 KRAS CA2 FARS2 ABCC6 DKC1 CYBC1 USP18 MAX WAS SP110 PALB2 UBR1 PUS1 C1R PRTN3 MSH2 RECQL4 SALL4 IL2RB MEFV RAC2 PIGL MPL ATP7B RPL27 USP8 LCAT CCND1 C3 XYLT1 TERT ENG CD59 CD109 CEL TBXA2R DPAGT1 SRP72 MPO TRNF LPIN2 CD247 VKORC1 COL3A1 DNAJC19 PTEN SMPD1 AK2 FLI1 STK11 BEST1 RPL11 CALR ITCH CRYAB PTPN22 COPA TUBB1 CFHR1 PRKAR1A CTCF RPS29 ATRX SCO2 DGKE MYSM1 USP8 SLC29A3 KIF1B CD3E ZMPSTE24 MTR PML ARFGEF2 TRNT1 VHL SRP54 SRP54 SMAD3 SLC27A4 AKR1D1 SMARCAL1 SC5D ATP7A SPTA1 SLC39A13 TYROBP ABCC6 COL3A1 TDP2 C1GALT1C1 GSN FANCL SDHB PEX14 ATRX HSPA9 ABCC8 BCL2 TERC SF3B1 TTN CYSLTR2 SMARCB1 F7 SERPINE1 USB1 SLC22A4 HBB GATA1 PSMB9 RFXAP COL4A1 ACD CP TMEM127 GYPC ABCB7 IGH CD28 FANCI FAM111A LMBRD1 HBG2 FYB1 TMEM127 RHAG ALDOB TNFRSF13C TBC1D24 CD27 UBAC2 ACAD8 RFT1 NLRP3 PNP USB1 TSC2 PTPN11 GNA11 ADA HSD3B7 RAG2 RMRP PRSS1 FDX2 VKORC1 CLCN7 NGLY1 TF NCF1 JAK2 SCN9A SEC61A1 F2 ERMARD TGFB2 STEAP3 LMBRD1 RB1 MYH11 TARS1 CLDN1 RET FGA TNFSF11 BRIP1 PNPO APP ITGB2 COL1A1 P2RY12 AMMECR1 RPS10 KRAS SDHAF2 TRAF3 PDGFRB HBB GATA2 ITGB4 SAMD9L TNNI3 GNAS MYBPC3 IGH SDHA TPM1 FANCD2 SDHA XIAP TCIRG1 NHLRC2 LIG4 PRKAR1A COL7A1 BRCA2 KCNJ1 DLL4 RMRP SDHC HBA2 NUP214 EPB42 C1S TRNW THPO RPL11 IL2RA KIT PRKAR1A BCS1L MYPN SAMD9 PACS2 TRNH KRT14 PLAT TCF3 RPS19 GPR35 HPS4 TBX1 PRKCD KCNJ5 SGCD ACTA2 SCARB2 NLRP3 APOE TCIRG1 RAG2 FLI1 DNMT3A FAN1 PKLR FAS FERMT1 CYP7B1 PROC HADH ADAM17 VPS13B PRKACG LPP BLOC1S3 TBK1 ATP6V0A2 COLGALT1 CTC1 TAL1 RNF168 LIPT1 IFNGR1 BCL10 COL1A1 XRCC4 GALT PLA2G4A KLF11 SF3B1 WDR19 GNAQ IGLL1 SURF1 TALDO1 FGG AGXT PDCD10 MPL MMADHC HK1 GP1BA ENG PRSS1 PDGFRA PDE11A CTPS1 BAP1 ATP7A TLR3 PEX13 AMMECR1 GGCX FGA XK APPL1 CPT2 PEX6 XPR1 TNFRSF1B YARS2 DCLRE1C EVC2 HABP2 COL5A1 AHCY XRCC4 MYH7 APP IL12A WT1 FASLG IKZF1 STOX1 RPS29 BUB1 PRKACA KRT5 ENG SDHD FGFR2 PSMB8 STS IL12A-AS1 WFS1 MLH1 SMAD4 TINF2 COX10 DOLK ASXL1 PEX2 LYRM7 ATP6V0A2 DHFR RPL15 HBA1 LCK RANBP2 TGFBR2 NDE1 DNMT3A RFT1 LZTR1 NEDD4L WAS STN1 PTEN SEMA4A EPB42 NBN UFD1 MYSM1 APP SMAD4 RNASEH2A LRBA C4A ARHGEF1 DNAJC21 ITGA2B HMGCL RAG1 HELLPAR TNNT2 NFKB2 FBN1 NOP10 JMJD1C RAF1 FGB CD46 HMCN1 PALB2 RAG2 FAT4 DGUOK FCGR2A ITGA2B HPRT1 POT1 TBCE POMP ABL1 FUT8 DES FAS NCF1 PROC RAD51 EWSR1 MMAA INHBA CAT FGA PIGL PEX19 SEMA3E FGB EPB41 IFNG LBR EVC LAMTOR2 VWF LRP5 CCND1 MET RPL5 ITGB3 CST3 CYB5A HBA2 LEP LAMA3 KRT5 IRF2BP2 TCF4 TCIRG1 STAT4 CTNNB1 KRT1 CORO1A STK11 SPATA5 NRAS FGG SF3B1 ACP5 CD19 RPL26 CSF3R DLD AK1 DTNBP1 ADAMTS2 NEBL NLRP12 RPS24 RNF113A HMGCL JAK2 BLM LBR HBB TNFRSF1A EPAS1 KIF15 PCCA SH2B3 ABCD3 BRAF TINF2 AGGF1 RAG1 UROS F8 IREB2 SALL4 CPA1 KIT ALPL BMPR1A DNAJC21 CYBB FANCB LAMA3 RPS28 PLN PDGFB CYP11B1 CACNA1D MSH6 RUNX1 DOLK CD247 HBG2 PADI4 WRAP53 PANK2 ATP6AP1 SMAD3 ERCC3 HRG CTLA4 ETV6 CFTR STK4 F2 ND6 PET100 EP300 CHIC2 NLRC4 XYLT2 HBG1 COX15 DSG2 SCN10A DOCK8 DNAJC19 PRF1 SC5D PIGM PMM2 SPINK1 LIPA HAVCR2 IL10 KLRC4 NOS3 SAMD9L ALAS2 KIF1B SLC30A10 F9 MTOR HBB ENPP1 POLG LAMC2 NLRP3 HPS5 FH LAMB3 SLC37A4 MCFD2 HBD KLHDC8B CEBPE HBA1 JAK2 SHPK ISCU DNM1L ELANE IDH2 MAGT1 GNA14 CAD IL7R ACAD9 ESCO2 HPS6 LRP5 NSMCE2 COL14A1 RHBDF2 MPL MMACHC IFIH1 JAK2 SLC40A1 NCF2 RPL18 LIG4 SURF1 FANCG ITGB3 SLC35C1 MYC CD79A SBDS BRIP1 BCR KRIT1 PDGFRA BLNK ANKRD1 ALG8 CD4 MSH6 APP TALDO1 BUB1B CTLA4 CD81 GCK RAD54L NOTCH1 STIM1 DBH NCF4 SMAD4 STAT1 TTC37 TMEM165 RPS14 BCR CD244 PRF1 MSN C4A TNFRSF13B CALR PTPN22 SPINK1 CD28 ATP7A CIITA F13A1 ABHD5 LARS1 TET2 GFI1 CFHR3 PROS1 MFAP5 PKLR BMS1 SLC25A15 TNFRSF13C SLC4A1 F10 MGAT2 SKIV2L CXCR4 CLN3 RTEL1 SLC46A1 CD55 TLR4 GFI1 TINF2 NPC2 RBM8A PLEC NDUFAF5 COG4 SDHB AP3D1 ELMO2 IL10 ITGB3 DDX41 SAR1B RAG1 RBM20 LMAN1 COA8 TFRC CASP10 EXTL3 STAT4 PLEC ARVCF SH2D1A ERF COX3 ZAP70 C15ORF41 RNU4ATAC RNASEH2C TYMP COL5A1 GPX1 TREX1 NDUFA4 FH GCLC COG6 COG4 SLC7A7 CYBA NLRP1 CBL RFX5 MS4A1 CFHR1 JAGN1 PLAU PUF60 COL1A2 AIRE BPGM TRNS2 BLOC1S6 FANCG SAMHD1 LIG4 TNFRSF4 CFHR3 NLRP3 IRAK4 PRKG1 PRSS2 DIAPH1 SLC4A1 HBA2 BLK SNX10 KIT RRM2B AAGAB ITGA2B RARA CD40 NEUROD1 PHF21A MLH1 FANCB FKBP14 EXTL3 GP1BB XIAP CTNNB1 SPTB PIK3R1 NAGS DMD TTC7A JAK2 APC PMS2 PRSS2 PLEC PLOD1 GP1BA MRAS FAS STXBP2 HBB NBN PTPRC KRT14 VPS33A GP1BA MAD2L2 FECH AP3B1 CDKN2A TBXAS1 ERBB3 A2ML1 WIPF1
Protein Mutations 3
C282Y H63D T315I