SNPMiner Trials by Shray Alag

NCT00511368 (37) NCT00460382 (36) NCT04504071 (35) NCT03783286 (33) NCT04172597 (32) NCT02404233 (29) NCT00959894 (28) NCT00706147 (28) NCT00121017 (28) NCT01685801 (27) NCT04513626 (26) NCT01736761 (26) NCT04495348 (24) NCT02673398 (23) NCT02499978 (22) NCT01605084 (21) NCT04254705 (21) NCT02069834 (21) NCT00939770 (18) NCT01792570 (18) NCT01199939 (18) NCT00356616 (18) NCT02728258 (17) NCT02707601 (17) NCT02770508 (16) NCT00711009 (16) NCT00630864 (16) NCT00491556 (15) NCT04085315 (15) NCT02616029 (15) NCT00830804 (15) NCT04681820 (15) NCT01170962 (14) NCT00984152 (14) NCT03953898 (14) NCT00727597 (14) NCT03212274 (14) NCT01369199 (13) NCT00337467 (13) NCT00098293 (13) NCT01368497 (13) NCT02159599 (13) NCT00424814 (12) NCT04432454 (12) NCT02527096 (12) NCT01849003 (12) NCT03781063 (12) NCT03683524 (11) NCT01614457 (11) NCT00460746 (11) NCT00993148 (11) NCT03061331 (11) NCT02494882 (11) NCT03068312 (11) NCT04453436 (11) NCT01521338 (10) NCT02725567 (10) NCT01614470 (10) NCT01423812 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NCT02554591 (5) NCT01501604 (5) NCT02716116 (5) NCT01136460 (5) NCT00187655 (5) NCT00350272 (5) NCT00837135 (5) NCT03202862 (5) NCT01707199 (5) NCT03839342 (5) NCT01323010 (4) NCT02248324 (4) NCT01698905 (4) NCT01737359 (4) NCT01306045 (4) NCT02804100 (4) NCT01456676 (4) NCT00588172 (4) NCT03434418 (4) NCT03593993 (4) NCT01804140 (4) NCT02882308 (4) NCT03497767 (4) NCT04106024 (4) NCT02716311 (4) NCT04405674 (4) NCT03599518 (4) NCT01675778 (4) NCT01604122 (4) NCT01297777 (4) NCT04519970 (4) NCT00705679 (4) NCT04147351 (4) NCT04129502 (4) NCT03976856 (4) NCT02335944 (4) NCT04625647 (4) NCT03948763 (4) NCT03255083 (4) NCT04002830 (4) NCT02635815 (4) NCT03066206 (4) NCT01331642 (4) NCT00557245 (4) NCT01922583 (4) NCT02893332 (4) NCT03592888 (4) NCT02257424 (4) NCT03874858 (4) NCT00017732 (4) NCT00187720 (4) NCT02593539 (4) NCT01185587 (4) NCT04439292 (4) NCT03884348 (4) NCT01309243 (4) NCT03209063 (4) NCT04160546 (4) NCT03292302 (4) NCT02418234 (4) NCT02535338 (3) NCT02192697 (3) NCT03410043 (3) NCT03845296 (3) NCT02914990 (3) NCT02113813 (3) NCT01532011 (3) NCT04340388 (3) NCT00962533 (3) NCT03856411 (3) NCT04049266 (3) NCT02973763 (3) NCT02926092 (3) NCT00271973 (3) NCT04256941 (3) NCT03812809 (3) NCT02954523 (3) NCT01784068 (3) NCT03446417 (3) NCT02841579 (3) NCT02025114 (3) NCT01288521 (3) NCT01385683 (3) NCT02279004 (3) NCT00998582 (3) NCT03111901 (3) NCT01352715 (3) NCT01619774 (3) NCT01045369 (3) NCT02246998 (3) NCT03969823 (3) NCT00895596 (3) NCT02398929 (3) NCT00724711 (3) NCT04029350 (3) NCT03737994 (3) NCT01443806 (3) NCT02629822 (3) NCT03463525 (3) NCT00710112 (3) NCT03623750 (3) NCT04283955 (3) NCT02743923 (3) NCT01016106 (3) NCT01259089 (3) NCT03971474 (3) NCT02917993 (3) NCT02368990 (3) NCT00279110 (3) NCT02485652 (3) NCT00312169 (3) NCT04541407 (3) NCT02769286 (3) NCT00747487 (3) NCT04267913 (3) NCT01429597 (3) NCT04023617 (3) NCT03790228 (3) NCT01759888 (3) NCT04429152 (3) NCT01810718 (3) NCT02725632 (3) NCT01090011 (3) NCT04544111 (3) NCT02926768 (3) NCT02981108 (3) NCT02459743 (3) NCT00654823 (3) NCT01037127 (3) NCT04439305 (3) NCT01028222 (3) NCT01542411 (3) NCT01031446 (3) NCT02726269 (3) NCT01892644 (3) NCT03260491 (3) NCT01802632 (3) NCT02720094 (3) NCT02630186 (3) NCT01627132 (3) NCT02690675 (3) NCT01013506 (3) NCT04252339 (3) NCT02496663 (3) NCT03386955 (3) NCT03394118 (3) NCT04212702 (3) NCT01754025 (3) NCT01160276 (3) NCT00121979 (3) NCT03228277 (3) NCT04351555 (3) NCT01243346 (3) NCT04510415 (3) NCT02796274 (3) NCT02774005 (3) NCT02064491 (3) NCT04233021 (3) NCT03799601 (3) NCT00260260 (3) NCT02094261 (3) NCT04245085 (3) NCT03058094 (3) NCT01282151 (3) NCT02520778 (3) NCT03161808 (3) NCT04181060 (3) NCT01342679 (3) NCT01443273 (3) NCT01593254 (3) NCT04433481 (3) NCT02529995 (3) NCT03502850 (3) NCT02771314 (3) NCT03823807 (3) NCT03270527 (3) NCT02688881 (3) NCT01005602 (3) NCT02442349 (3) NCT02684591 (2) NCT02282267 (2) NCT03381430 (2) NCT02178397 (2) NCT03608215 (2) NCT02603107 (2) NCT03370770 (2) NCT03322696 (2) NCT03333343 (2) NCT00525473 (2) NCT03127449 (2) NCT01781026 (2) NCT02503722 (2) NCT00975871 (2) NCT03964233 (2) NCT03388099 (2) NCT02317016 (2) NCT03845270 (2) NCT03519958 (2) NCT03918304 (2) NCT02151721 (2) NCT02777658 (2) NCT01016444 (2) NCT02971501 (2) NCT03101254 (2) NCT03178617 (2) NCT01774721 (2) NCT03574753 (2) NCT01357655 (2) NCT01766713 (2) NCT02097225 (2) NCT00658164 (2) NCT03622593 (2) NCT02571036 (2) NCT00969137 (2) NCT00834665 (2) NCT02026011 (2) NCT03622580 (2) NCT03543683 (2) NCT01143493 (2) NCT03671538 (2) NCT04028778 (2) NCT00324961 (2) NCT01915576 (2) NCT02157883 (2) NCT01387022 (2) NCT03864042 (2) NCT03235245 (2) NCT03469960 (2) NCT02795884 (2) NCT04687241 (2) NCT00005541 (2) NCT01242813 (2) NCT03960645 (2) NCT00643058 (2) NCT03443336 (2) NCT02992860 (2) NCT02281760 (2) NCT02201602 (2) NCT04310007 (2) NCT04309019 (2) NCT03720665 (2) NCT00909532 (2) NCT00411944 (2) NCT01604681 (2) NCT01245062 (2) NCT00270231 (2) NCT03256136 (2) NCT03973918 (2) NCT00302692 (2) NCT00125281 (2) NCT02163733 (2) NCT02110407 (2) NCT00475176 (2) NCT03196882 (2) NCT01572818 (2) NCT02556333 (2) NCT04268550 (2) NCT02433717 (2) NCT03428126 (2) NCT01153763 (2) NCT02609776 (2) NCT01420211 (2) NCT03556176 (2) NCT03872440 (2) NCT01405079 (2) NCT03382795 (2) NCT02991950 (2) NCT00013598 (2) NCT03455764 (2) NCT02422628 (2) NCT03831932 (2) NCT03766490 (2) NCT02580474 (2) NCT00499577 (2) NCT02444884 (2) NCT01775943 (2) NCT03544814 (2) NCT01310036 (2) NCT01027663 (2) NCT01928160 (2) NCT01244438 (2) NCT00007150 (2) NCT04462081 (2) NCT02297425 (2) NCT02086071 (2) NCT01050400 (2) NCT03060590 (2) NCT01819428 (2) NCT02709668 (2) NCT02411448 (2) NCT03878719 (2) NCT04622072 (2) NCT04479306 (2) NCT03377023 (2) NCT01378026 (2) NCT03239145 (2) NCT04511533 (2) NCT00226551 (2) NCT02191891 (2) NCT04586270 (2) NCT04669535 (2) NCT04545710 (2) NCT02120222 (2) NCT02738593 (2) NCT00831272 (2) NCT04469543 (2) NCT00573495 (2) NCT04158544 (2) NCT00904150 (2) NCT02110056 (2) NCT02856893 (2) NCT02110043 (2) NCT02182986 (2) NCT04179890 (2) NCT00063232 (2) NCT02197234 (2) NCT03121235 (2) NCT01532089 (2) NCT03887169 (2) NCT02268864 (2) NCT01963845 (2) NCT00866736 (2) NCT03991013 (2) NCT02500927 (2) NCT04657991 (2) NCT02228382 (2) NCT02689570 (2) NCT01513785 (2) NCT02463435 (2) NCT03351361 (2) NCT04527549 (2) NCT03424759 (2) NCT02197247 (2) NCT02321046 (2) NCT04272034 (2) NCT04646824 (2) NCT04027647 (2) NCT02364609 (2) NCT02759835 (2) NCT04349865 (2) NCT00068159 (2) NCT00418015 (2) NCT04310397 (2) NCT03088176 (2) NCT03867175 (2) NCT00339209 (2) NCT00011258 (2) NCT01288430 (2) NCT01616199 (2) NCT03603262 (2) NCT03071705 (2) NCT00969930 (2) NCT00772408 (2) NCT02743468 (2) NCT00277342 (2) NCT04248829 (2) NCT01767454 (2) NCT00933127 (2) NCT03317873 (2) NCT03392246 (2) NCT01909453 (2) NCT03523104 (2) NCT00085917 (2) NCT02507921 (2) NCT03781752 (2) NCT03828422 (2) NCT02193282 (2) NCT03195452 (2) NCT04657289 (2) NCT02294487 (2) NCT01325441 (2) NCT02511106 (2) NCT02997501 (2) NCT04184921 (2) NCT00625092 (2) NCT01657786 (2) NCT01415011 (2) NCT02629523 (2) NCT01718847 (2) NCT02818023 (2) NCT00577707 (2) NCT01943422 (2) NCT00116636 (2) NCT04429542 (2) NCT01841463 (2) NCT03865511 (2) NCT03205267 (2) NCT01218477 (2) NCT02881320 (2) NCT01897480 (2) NCT02810990 (2) NCT04189757 (2) NCT01951001 (2) NCT04254939 (2) NCT03207867 (2) NCT00780949 (2) NCT03355768 (2) NCT00817089 (2) NCT02143466 (2) NCT04499053 (2) NCT01907776 (2) NCT00909727 (2) NCT01562028 (2) NCT03737253 (2) NCT00441974 (2) NCT02155465 (2) NCT04586335 (2) NCT00661999 (2) NCT02705339 (2) NCT04006340 (2) NCT04553887 (2) NCT04645225 (2) NCT03852290 (2) NCT02183922 (2) NCT03970239 (2) NCT00294372 (2) NCT03250676 (2) NCT03792074 (2) NCT00671892 (2) NCT00689182 (2) NCT00106379 (2) NCT01947023 (2) NCT00509652 (2) NCT03683251 (2) NCT02039986 (2) NCT03515837 (2) NCT04081688 (2) NCT03190005 (2) NCT01584648 (2) NCT02292654 (2) NCT03992456 (2) NCT03133546 (2) NCT01485809 (2) NCT01266967 (2) NCT04644315 (2) NCT02909712 (2) NCT00062764 (2) NCT01776684 (2) NCT03042221 (2) NCT01940809 (2) NCT04675008 (2) NCT01161537 (2) NCT01154816 (2) NCT01175759 (2) NCT01199731 (2) NCT02788058 (2) NCT03130452 (2) NCT04687423 (2) NCT01772732 (2) NCT02631447 (2) NCT02525692 (2) NCT02526537 (2) NCT03513666 (2) NCT02027961 (2) NCT03106779 (2) NCT04106544 (2) NCT04258943 (2) NCT00165984 (2) NCT00977470 (2) NCT02092974 (2) NCT03975231 (2) NCT03586453 (2) NCT01998295 (2) NCT02021305 (2) NCT03135197 (2) NCT00432016 (2) NCT04636437 (2) NCT03004625 (2) NCT03851445 (2) NCT04031898 (2) NCT04201418 (2) NCT01911507 (2) NCT03539224 (2) NCT01978236 (2) NCT00866177 (2) NCT00320879 (2) NCT00044304 (2) NCT01999179 (2) NCT00977730 (2) NCT02491775 (2) NCT00212147 (2) NCT02040064 (2) NCT00489385 (2) NCT01713023 (2) NCT04122729 (2) NCT03994393 (2) NCT02438722 (2) NCT02762448 (2) NCT00071903 (2) NCT00626223 (2) NCT01193829 (2) NCT03239340 (2) NCT02991274 (2) NCT02811354 (2) NCT03416530 (2) NCT02522988 (2) 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NCT03678506 (1) NCT02146365 (1) NCT04310943 (1) NCT02619955 (1) NCT02934139 (1) NCT00400387 (1) NCT00375219 (1) NCT00149305 (1) NCT03520946 (1) NCT02787447 (1) NCT04501614 (1) NCT03166631 (1) NCT04213313 (1) NCT02078531 (1) NCT02349048 (1) NCT02981784 (1) NCT04636593 (1) NCT01647711 (1) NCT03231722 (1) NCT03576937 (1) NCT04412070 (1) NCT00554866 (1) NCT03151161 (1) NCT01817166 (1) NCT02220855 (1) NCT02512627 (1) NCT04591197 (1) NCT03402048 (1) NCT04500704 (1) NCT02323724 (1) NCT01166126 (1) NCT03029858 (1) NCT04317599 (1) NCT00300573 (1) NCT00809211 (1) NCT01393730 (1) NCT02318368 (1) NCT02228369 (1) NCT04500717 (1) NCT01074398 (1) NCT03134131 (1) NCT02455167 (1) NCT01004497 (1) NCT02073279 (1) NCT02117817 (1) NCT00323687 (1) NCT01605981 (1) NCT01371955 (1) NCT04147767 (1) NCT04144257 (1) NCT03490123 (1) NCT04423185 (1) NCT02625337 (1) NCT03567629 (1) NCT03360929 (1) NCT00109278 (1) NCT04108156 (1) NCT02132598 (1) NCT00542451 (1) NCT01587573 (1) NCT00868465 (1) NCT01494402 (1) 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SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT00005541

Developed by Shray Alag, 2020-2021.
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 1969
RPS7 GCNT2 TREX1 SLFN14 EPB41 TERT NUMA1 CD247 CTPS1 NTRK1 APP ARVCF SLC2A10 RPS15A APP KRT14 ZNF341 NBEAL2 RREB1 PTF1A MALT1 HPGD EGLN1 COG4 PRSS1 PEX11B SPATA5 PAX4 TERT HBB RPL15 STK11 BUB1B MTTP ANKRD11 TARS1 PKLR RAF1 TTC7A SPATA5 SH2B3 ALAS2 BRIP1 FGA VPS13B HSD3B7 PNPO SEC24C TYROBP DSG2 UROS MECOM PIK3CA CLDN1 TCAP RS1 PLEC SLC37A4 TSC1 ATRX FANCG GP1BA INS TERC SRP72 MPL THSD1 EVC2 DLST ATP6V0A2 AK2 ACTN4 DNMT3A THPO ABCB7 NOD2 SRSF2 MYH6 CPOX XYLT1 ANKRD26 VPS45 ACTA2 ERF VPS13B PHGDH PRKCD KCNE1 PALB2 FOXN1 FOXP1 COL1A2 CD79A COL3A1 CBL PHKG2 ATP6V1E1 RUNX1 COL5A1 PEX19 AMN CR2 ACVRL1 AMMECR1 STX11 ADA2 THRA MADD ERCC8 SBDS FANCL ALDOB LYST RINT1 FAN1 SLC25A10 COX10 TET2 RFX5 SLC2A1 VPS33A HMGCL DLL4 KLF1 XK NUP214 MYH11 CCND1 F8 MVK SCO2 PUF60 RYR1 CASK HBA2 MET BEST1 NLRP3 SMPD1 FANCF VWF MLH1 PIK3CA TCIRG1 APPL1 ND4 BLNK RPS19 FLI1 KIF20A DLL4 DGKE MYD88 KRAS IFT140 ERMARD BAP1 APP NPHP4 F12 CALR SMARCB1 TRNN SLC19A3 BTK MSH6 CCBE1 PSMB9 APOE UMPS CDC42 SMAD4 ITGB3 SMAD4 STAT1 SNX10 FKBP14 BRAF GCK SC5D DES FAS MCFD2 SCARB2 NEXN ABCC6 CEP57 GALNT2 ECHS1 RFXAP FLNA PTPN22 TTC7A RAG1 UROS TRNS2 NLRP1 C1R ATRX ABCD4 MARS1 ETHE1 SSR4 SOS1 RPS19 TONSL IL12A-AS1 HBB ENG TNNC1 TYMP CDKN1B LPIN2 RPS24 ACTN1 NPM1 TSC2 SCN11A SLC2A1 TACO1 RB1 IFNG ANK1 AASS CTLA4 KLF1 C1S SAR1B HABP2 MYSM1 DSE ERBB3 NSUN2 FERMT1 GUCY1A1 CTNNB1 RET WIPF1 FGA DDOST HBA2 DYNC2LI1 ELANE WFS1 EWSR1 VHL PMM2 ELN ABCB6 HBG2 SLC29A3 THBD RAG2 RAG2 CAPN5 PGM3 MMUT FANCE MPL TP53 COL7A1 MSN SGCG PNP SRC SPTA1 FLNC GNA11 ATRX NCF4 GBA ENG ETV6 PARN PLN NDP MDM2 AGA LAMC2 NBEAL2 RAG2 DCLRE1C CBL FANCC WAS BLK AMACR GGCX PRLR ATP7B NCF1 CD3D IL2RB MGAT2 SAA1 PMS1 IL7R RNASEH2A TBC1D24 TTC37 SPTA1 MLX HBB PDE11A IDH1 SMAD3 IGLL1 DPAGT1 RYR1 TERT NOS3 GATB SDHB BRCA1 CISD2 GSS BUB1B BAP1 GDF2 CYBB DNMT3A NEU1 PTPRC VWF SRD5A3 NDUFA2 TNNI3 PRKAR1A CYB5R3 IDH2 SNX10 PTPN11 COX3 CARD11 COG8 AGK NDUFV2 TMTC3 CTSK TREX1 XPR1 POT1 ACVRL1 TFAM TFR2 MTTP NBN NRAS BCL11B CLCN7 CHIC2 FBN1 NDUFAF3 NDUFAF2 CRIPT FANCB CD3D STAT3 CARD11 BAG3 CLCNKB SLC25A13 PGM1 JAK2 TCN2 RPL31 F7 YARS2 COL4A1 PIK3CA BCR SAMD9 USP18 CD247 PRLR TREX1 SLC29A3 ARMC5 COLGALT1 JAK2 ITGA2B IL6R NFKB1 IL1RN IRAK1 TGFBR1 MYC FUT8 PEX12 COL4A2 KIF11 GP1BB MDH2 UBE2A LAMB3 NFKB2 PIK3CD ENG ANK1 HBD HELLS MAX RNF43 MTHFD1 SETD2 CTLA4 CCM2 F10 DZIP1L JAM2 DKC1 KRT14 IKZF1 CD28 POLG ADA2 BPGM TSR2 TET2 PML BLOC1S3 TGFB3 GYPC CHD7 CP FH ATRX KIT RBM10 TF BMPR1A DPM1 PARN RHOH NFKB2 HSD3B7 NF1 RFWD3 VHL PFKM TLL1 DCLRE1C NAXD ABL1 WFS1 HAX1 CFHR1 NHP2 TGFBR3 PRPS1 FANCB FOXN1 IL2RG OSTM1 IL7R PTH1R SLC17A5 SDHB SMPD1 COL5A2 SLC4A1 F13B TAL1 LAMTOR2 CLPX SDHC NR1H4 GP1BA SMAD4 IVD KDM6A CLPB F9 IRX5 GDF2 PSMB4 FANCG UBR1 ND6 FGFR2 COL3A1 ARHGAP31 MS4A1 GNE USB1 GATA1 HBG1 GATA2 NDE1 TINF2 F13B BMPR1A HOXA11 ATP6AP2 LBR RPS27 SDHD CYP11B2 PUS1 IL7 IFNG PLAU PROC KCNJ5 RRM2B DTNBP1 HNF4A JAK3 ABCG8 CFTR BAP1 TF NBAS GATA1 ATM CACNA1S VKORC1 SERPINE1 GATA1 CD81 KRT1 PEX13 PLEKHM1 ABCC8 CYBC1 FANCD2 RAG1 BMS1 EPB42 GP1BB TP53 LBR ADAMTS2 TCIRG1 GFI1 PMM2 PICALM FERMT3 IKBKG PTEN FUCA1 GNAS AGGF1 F8 NPHP1 KCNN4 NLRP12 TGFBR1 PRDM5 NUTM1 MPL SIK3 NOTCH1 SLC40A1 PMS2 SLX4 RPL27 CD28 PPOX TCF3 CA2 PDGFRB GREM1 COL1A1 STAT5B STXBP2 CREBBP SLC2A1 NEDD4L SLC7A7 BCS1L CD8A DOCK6 CD46 BCL2 MFAP5 KRAS KNSTRN PRSS1 KIT SF3B1 MYBPC3 FANCD2 PTPN22 IL7R FECH SMARCAL1 CIITA HBB GBA G6PC3 DNAJC21 PDCD10 PEX26 MAP2K2 IL2RA ENPP1 CTC1 IKBKG PNP PRTN3 SP110 EPB42 XYLT2 LIG4 GP1BB TRNS1 FZD4 FCGR2B SDHD CYP2A6 BLM ACD RRAS FANCI TREX1 ZAP70 ALDOB C3 IFIH1 IDH2 USP8 USP8 RMRP APOE HBB AP3D1 BRCC3 ABCA1 PEX3 RPS14 PANK2 TBXAS1 MTAP C4A TRNQ DNAJC21 GCK ZMPSTE24 LBR SBDS PDCD10 CYP7B1 PEX1 MTHFR BCL10 TNFAIP3 PRF1 KRAS MAP1B TGFB2 RAG2 GBA TREM2 JAK2 IRAK4 CD40LG MSH2 NBN MMACHC SLC25A38 CUBN GP1BB BRIP1 SLC35A1 GBA MPIG6B SPP1 NCF2 PTPN11 PTPN22 FOXP3 RAC2 STIM1 RPL35A NPM1 SDHA SDHB TRNF TPP2 RAG1 KANSL1 HAVCR2 HMGCL HBB RPL18 SLC4A1 IL6ST HBB-LCR ACP5 XIAP PLEC TCF3 IL2RG ATP7A CYP11B1 SDHB PCNT PTPN11 GP1BA LRRC8A RPL26 COG1 LRP5 RMRP SPINK1 PIEZO1 TTN PLEC ABHD5 AEBP1 SLC35C1 ANAPC1 CPA1 CD36 SPTA1 TCF4 CTCF MSH6 FAM111A PEX16 FLNA POMP LIPT1 RAC2 SLCO2A1 CD109 A4GALT CHD7 TGFBR2 CFI PHF21A NPHP4 TRNT1 TNNT2 SRP54 COL14A1 CDKN2C KRT5 NDUFA10 FKBP14 RPS17 SLC27A4 APC2 MYH7 ENG PFKM KRT5 TNFRSF1A CBFB CYB5A BCL10 CLCN7 YARS2 NSD1 FOXN1 LMNB2 KIT NDUFS7 PDGFB ATP6V1A TBX1 PROS1 AKT1 KLHDC8B TNFSF12 EPCAM P2RY12 IL10 MLH1 SLC4A1 NDUFS8 PDGFRA TINF2 SDHD NCF2 NDUFAF5 TNFRSF1B PSTPIP1 BCOR RNASEH2C SAMD9L TRNW FH MAD2L2 NOP10 NOTCH3 MPL SMARCE1 F13A1 LAMC2 MPL MYH9 COL1A2 STAT3 CCND1 TMPO TUBB1 KRT14 ARFGEF2 SSR4 ALG8 CD79A PIK3R1 TRNS1 HPS6 ALG2 RIN2 ETV6 LMAN1 SC5D KCNJ11 HK1 PPCS FGB IL23R COX2 COQ2 F8 INS CYBA HADH SCN9A CASR RASGRP1 STT3B ICOS TCF4 FADD AMMECR1 GATA1 COL3A1 TAL2 CDCA7 SEC23B HBA1 SREBF1 COL17A1 ITGA2B PIGT ANO6 F11 HBG2 CDAN1 IREB2 TERT CDIN1 SDHA PLAT SOS1 HAMP NRAS WAS F2 NF2 NDUFS1 FAS SAMHD1 TP53 HPS1 TET2 NSMCE3 PTEN G6PC1 TNFRSF1A VKORC1 JAK2 GNAQ NHP2 SMARCAL1 SRD5A3 IFIH1 TMEM127 CLPB RNASEH2C GNAS JAGN1 F9 CIITA CCR1 SLC11A2 PLEC RNU4ATAC EPOR ITGB2 SPTA1 EFL1 FAS ITGB4 GP1BA RAD51 PRF1 TRNT1 NDUFA9 MMUT HBA1 XRCC2 GATA1 VHL ERAP1 ERCC6 FARSB RAB27A PRKACA ZCCHC8 ANK1 JAK2 LYST GBA VHL PGK1 ELANE RFWD3 CORO1A GNAQ KLRC4 C4A DNASE1 CA2 KIT MMP1 F13A1 LZTR1 HLA-DRB1 MPL ADAMTS2 WDR19 ALG12 AK2 CD55 MVK SFXN4 HELLPAR ELANE GTF2E2 GP9 ABCC9 GPR35 BLOC1S6 CDKN1A UBE2T GP1BA NEBL BRCA2 SH2B3 ERCC3 TGFB3 ANGPTL6 STK4 CEL TET2 PRKAR1A SF3B1 LCAT GFI1B KMT2D MAT2A FIBP LRP5 TNFSF11 GSS PET100 LMNA COL7A1 LCK EPHB2 ABCC2 GATA1 PROC CTRC VWF TGFBR2 RASA2 APC NHLRC2 NGLY1 FANCM NLRP3 GGCX GLI1 CD70 KCNQ1 PIK3CD FMO3 TCF4 CFHR3 SHPK PSAP HLA-DPA1 ERCC4 RIT1 STN1 AK1 UNC119 GPC1 WAS NLRP3 MYD88 THBD TP63 SDHA NF1 HBA1 PHGDH RARA RPL26 GATA2 TREX1 ABCC6 STT3B APOB FDX2 CD81 TNFRSF13B FIG4 TRAF3 LIG4 KLF11 ABL1 IL36RN SLC19A2 COL3A1 ACD MTHFR HLCS CYBA ERCC8 TET2 HLA-DPB1 DLD TERT RPL35 CFHR1 SURF1 ATOH7 SERAC1 GFI1B RRAS2 ALAD CASP10 EPHB4 XRCC4 NIPBL NEUROD1 LMBRD1 PANK2 LACC1 TXNRD2 IL10RA ATP7A MYH9 TRNW GDNF CTLA4 SLC35A1 EPAS1 SPTB ADAMTS3 GLB1 F7 COL5A1 CXCR4 CBS ACP2 EPO EPO LIG4 BLM RNU4ATAC PDX1 CLN3 AKR1D1 TINF2 ADA2 KCNJ1 CST3 RAG1 CFI FKTN USB1 NLRP3 SPTB NDUFAF6 STAT2 SBDS ARL6IP6 FAH LAMTOR2 GALC MEFV RASA1 LIG4 NF1 PDGFB TSR2 DNMT3B RPL35 SDHAF2 FAS SERPINC1 TCIRG1 CALR PIK3R1 HBA1 RFT1 COX15 MDM4 SDHD SLC4A1 SRP54 SLC4A4 MSH2 MCM4 CTLA4 FLI1 MMADHC HBA2 TINF2 CD40 SDHC MPL CR2 COL1A1 FGG TFRC KIT EXT2 ITGA2B KIF1B ITGB3 MTRR CYB5R3 STXBP1 DNM2 NCKAP1L GATA6 SERPINF2 HTRA2 LDB3 FLT3 STAT1 PLEKHM1 RPS28 RMRP UQCRFS1 LMX1B SALL4 MAX BMPR1A PLEC CISD2 IGHM SLC25A15 CXCR4 MEFV RNASEH2B DOCK2 STIM1 CCND1 TICAM1 AHCY FANCC BCL6 SKIV2L ISCU TERT NPC1 FANCI NDUFS2 ALG6 SDHC HBB TNFRSF13B MMAA GPX1 PEX6 CTLA4 FARS2 ATP7A NPC2 TTI2 CP B4GALT1 SBDS CYP26C1 PTEN ETHE1 DNASE1L3 RASGRP1 FANCA DIAPH1 PROC CYCS HNF1A DHFR GPI MAN2B1 KIF23 THPO EPG5 NBN RASGRP2 LBR F13A1 CBL IL18BP ANKRD1 FLNA IL12A ARHGAP26 MMUT RPS29 CFB UMPS SERPIND1 PLOD3 APP PIGM HPS5 COL4A5 PRKG1 ACP5 JAK3 DNAJC21 MPI SH3GL1 UROD CFTR RHBDF2 RBM8A FYB1 LYRM7 RPS10 RPS26 PIGA CD3E POLE CDH23 SCARB2 HPRT1 IRAK4 FANCF PIGL CYP4V2 SLC2A1 PEX10 SLC46A1 JAK1 IL2RG JMJD1C SLC30A10 BUB1 TET2 PALB2 GALT IL12B OCLN MYSM1 LEPR JAK2 TBX1 FGG ZAP70 FASLG COX4I2 RFXANK PEX12 PIEZO1 FLNA EPB41 RUNX1 B2M NOTCH1 CORIN SPTA1 MPLKIP PROS1 TPI1 FECH ALAS2 GNA14 MADD GCDH CD59 PEPD WRAP53 RPL5 ZBTB24 SDHA IDH1 CCM2 ASXL1 CLCN7 SF3B1 GCLC FARSA CDC42 RPS10 ACTC1 ASXL1 STAT4 C2 BCR KRAS KLF1 CD151 EPAS1 TBCE BRCA2 SPTB RNF113A BRAF IGHM RAF1 FASLG DNAJC19 PNPO ATRX HAVCR2 TNXB CFH GATA2 CD3E ATP6AP1 MLH1 STAT3 LOX RNF168 CD3G ESCO2 RAC2 ACAD9 IGH CYBB COL5A2 JAK2 TMEM127 LPIN2 SLC12A3 NTHL1 DOLK NEU1 ADA STAT3 SETBP1 CFH MYH7 MLLT10 HLA-B NUP214 SLX4 CARD9 TSC1 MPDU1 DNMT3B RECQL4 ATR A2ML1 RPS26 FHL2 MEFV ORAI1 ITCH SEMA4A IRF2BP2 ASXL1 RPL5 RPS27 SURF1 RPS24 VPS33B RPL35A RET FTCD UFD1 ASAH1 SERPINF2 UBE2T SRP54 GBA DKC1 RTEL1 TCIRG1 LAMB3 MMAB HBB KANSL1 EIF2AK3 RECQL4 RPL27 DNAJC19 TALDO1 STEAP3 RAG1 UNC13D FZD4 NDUFS2 GFI1 PHKA2 LAT MAP2K1 ABCC8 PCCB KCNN4 ERCC4 ARHGEF1 LARS2 OCRL ARPC1B CALR GATA1 WDR1 TLR3 RHAG DOLK RBPJ MRPS7 CPT2 MYLK ADAR SARS2 MTRR BMPR1A CSF3R TCN2 MLH3 HBA2 JAK2 COL4A1 TBL1XR1 EFL1 TERC BUB3 ITGB3 TRIP13 TINF2 RRAS2 F11 PRDM16 LIG4 MPO ATP7B AMMECR1 GLB1 REN FANCA ACAD8 PRKAR1A PRF1 CYP7B1 VHL EXTL3 KCNE5 RUNX1 MAN2B1 COMT PRKCD BLNK PLA2G4A MYORG FCGR2C GCLC AIP RHAG WT1 TET2 LIPA RAB27A RAG2 KIT ADA FCGR2A WAS PRKAR1A CYTB BTNL2 CSRP3 FN1 CST3 IGH PIEZO1 ACTN2 PSEN1 G6PD COL1A1 NPM1 ATP6V0A2 ZBTB16 ERCC6L2 ERCC6 COL7A1 KIT JAK2 MTOR CDKN2A LAMA3 TBX2 SH2B3 IKZF1 PLOD1 LMNA AKT1 LMBRD1 HBB SH2B3 HBG1 COPA FBN1 GALT SEC63 MYC CASR RAD51C PLOD1 PRDX1 HPS3 MUC1 CYP4F22 TGFBR2 MTR IGH ITGB4 TAZ DNMT3A PRKACG GNAQ HBG2 HIRA FLI1 GNAS NRAS BAP1 MEN1 COX1 EXTL3 MYD88 RPL11 NT5C3A PET100 RIPK1 FOXP3 ELANE TRMU AP3B1 CBL SLC39A13 PKHD1 CD4 RPL11 CHEK2 RANBP2 GLRX5 TET2 DOCK8 FGB ABHD5 F2 STK11 PEX2 PCCA TTC37 SMAD4 DAXX ABCB7 TNFRSF13C KRT14 PACS2 RPS15A GLA F5 HBA2 HSD17B10 RPL15 FGB TERT TNFRSF1B SLC30A10 CHST14 KIT PKLR TBXA2R BACH2 TRAC TMEM67 SH2D1A SLC17A5 KRAS CYP2C9 GBA GSN GSR SLC35C1 CAP2 MPL VPS13A BRD4 ITGA2B NHP2 CLCN7 SLC4A1 NDUFA12 NBN CYSLTR2 TRNH AAGAB RAG1 AGXT TGFB1 PTPN11 MAGT1 GATA2 HMCN1 IFNGR1 SMAD4 SLC7A7 DNM1L PDE4D NFKB1 LAMA3 ZNF469 FGA ND1 CBS DOCK8 SOS2 SLC19A2 LAMA4 SUFU TKFC LIPA ACAT1 STING1 CASP10 SRP54 ZEB2 TNFRSF13C RPS17 RPL18 MECOM PGK1 CCND1 KRT5 MRAS TNFSF11 PDGFRA CAT KIF15 ADA SLC20A2 XRCC4 ACAD9 GBA SLC4A1 NUMA1 PDHA1 TNFRSF11A GLA FANCL FBXL4 LARS1 F5 HRG TMPRSS6 CAPN3 ITGA2 MAN2B1 ELMO2 HLA-DRB1 LRP5 KIF1B APP TAZ TNNT2 NDUFV1 FGG HOXA11 INS TRAF7 RNASEH2A SPTB RBM20 NDUFA13 MMP1 NDUFA4 ATRX STS COG4 ABCC8 GATAD1 PRKCD RPS7 MYPN ABCA1 GP9 NHEJ1 PTEN ABCD3 TNNI3 KCNJ11 GATA2 GNB1 TNXB BCR PDX1 TSC2 PEX14 GFI1 TNFSF12 DBH COL1A2 NDUFS3 TPMT RPS28 C1GALT1C1 SLC25A21 SDHB FOXE3 NLRP3 KCNJ11 NABP1 TNFRSF4 DPM2 NAGS PLVAP HBB RPS20 RPSA HLCS ALPK1 SCN5A LYST SMO CD19 HMOX1 BMPR2 APOA1 ADAMTS13 LEP GATA1 HSPA9 ITCH ATM GBA APOE CRYAB FAM111A CEBPE KIF1B DDX41 PIGL COL7A1 NDUFB8 BAX RHAG HYOU1 AEBP1 RAC2 JAK2 TOR1A VPS13A RARA PRSS2 GINS1 ZBTB20 AKR1D1 EVC ATP11C FANCE WIPF1 TGFB1 FGG CTRC TMEM165 CAD SGPL1 LPP SALL4 KRIT1 NPHP1 FLT1 CD19 SURF1 UNC93B1 TP53 SMPD1 SMARCD2 SERPINC1 BRCA1 SPARC PSMB8 HPS4 CACNA1D ATM CDKN2B KRIT1 GATC SGCD LRP5 CLCN7 HAND2 SAMHD1 FLT3 MST1 TAZ COL5A1 SEMA3E MMACHC ALDOA PROS1 SRSF2 FGB NOP10 FOXRED1 PLG ARF1 RAF1 OPA1 COG6 CD79B BCL11B IVNS1ABP STOX1 ASAH1 CALR SMAD3 TALDO1 CITED2 ERCC2 TAF1A COL4A1 SPINK1 APC TERT TEK STEAP3 TERC ALX4 NF1 PDGFRB RPS14 SPINK5 RTEL1 TGFB2 HBB RNASEH2B TPM1 MAD2L2 PGM3 EOGT VHL PUS1 SAMD9L SLC46A1 MTFMT ICOS TEK F5 RFX5 CHST14 GLB1 DCLRE1C TLR4 NCF1 CYBC1 IL2RG B3GALT6 LMAN1 HBB OTULIN TNFRSF13B F8 TET2 MCFD2 WAS WRAP53 HBG1 ATP7A RFXAP KCNQ1 ABCC6 STIM1 ADAR WARS2 DGUOK HBB STAT4 PTEN SMAD3 GTF2H5 TERT RUNX1 FAT4 CYB5A HPRT1 PSEN2 ITGB3 UBAC2 RIN2 BIRC3 FGA CD27 BMPR1A TBXAS1 MMADHC RBM8A NLRC4 CFHR3 F10 NSMCE2 TDP2 VCL QRSL1 PIK3R1 PRKCSH ALPL CBLIF ITK PKLR TRNL1 CTC1 PRSS2 PEX5 AKT1 MYPN ACVR1 F2 FIP1L1 ALAS2 TBK1 ND5 APC NFIX ACSL4 ICOS RFXANK GP6 HLA-B EP300 NDUFS4 CTNNB1 KLKB1 HLA-DRB1 DKC1 SCN10A RPS29 GGCX LRBA ERCC4 RFT1 HBA1 F5 SEC61A1 TERC SLC25A11 GNAS CEBPA RET IFNG RTEL1 COA8 DMD SLC39A13 CD46 VPS33A KCNJ11 XIAP ITGB4 HLA-B MVK
Protein Mutations 3
C282Y H63D T315I