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 NCT01795131

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

Role of Vitamin B12 Supplementation During Pregnancy and Postpartum to Reduce Nutritional Anemia and Improve Immunity in Bangladeshi Women and Their Infants

Nutritional anemia is a major public health problem among children and women in developing countries. Despite ongoing national program of supplementing pregnant women with iron-folate, prevalence of anemia is 39% among pregnant women and 78% among infants in Bangladesh. Vitamin B12 deficiency is a more prevalent cause of megaloblastic anemia than folate in many developing countries. This data raises the interest to address the role of vitamin B12 deficiency in nutritional anemia. Low dietary intake of animal products, a predominant source of vitamin B12 may cause anemia. Besides maintaining normal erythropoiesis, B12 is essential for immune function. However, no studies have evaluated the effect of maternal B12 supplementation on reduction of anemia and improving immunity of their infants. The investigators hypothesize that vitamin B12 supplementation plus iron-folate during pregnancy and 3-mo postpartum would: (a) Decrease anemia among mothers and infants; (b) Improve vaccine specific cellular and humoral immune responses among mothers; (c) Improve vaccine specific immunity in infants by passive transfer; (d) Improve DNA methylation and one-carbon metabolism in mother-child pairs; (e) Reduce antenatal/postnatal depression. Results from this study will guide and provide support to the policy makers to identify effective strategies to reduce nutritional anemia in population at risk. The investigators aim to conduct a double-masked placebo controlled trial to investigate the added effect of vitamin B12 on the iron-folate supplementation among pregnant women. Anemic (Hb level <11.0 g/dl) mothers at 11-14 weeks of gestation will be randomized into two groups: supplement group will receive 250 ug vitamin B12 plus 400 ug folate and 60 mg iron; placebo group will receive folate and iron only. This daily supplementation will continue up to 3-mo postpartum. At 26-28 wk of gestation mothers will be given inactivated influenza vaccine. Data on anthropometric indices of mothers and children, birth size, infant growth and morbidity (mothers and children) throughout the study period will be recorded. 24-h dietary recall data will be collected from the mothers bimonthly throughout the study. Biochemical indicators of anemia including Hb, vitamin B12, ferritin, folate and α-glycoprotein (AGP) will be assessed in plasma of mothers (pre- and post-supplementation) and infants (cord blood and 3-months). Additional measurements include serum transferrin receptor (sTfR) in plasma and methyl malonic acid (MMA) and total homocysteine (tHcy) in the urine of mothers. Plasma vaccine specific antibody responses will be measured in mothers (pre- and post supplementation) and in infants (cord blood and 3-months). In breast milk, B12, folate and s-IgA will be determined. Genetic polymorphism (one-carbon metabolism) and DNA methylation will be studied in mothers and in cord blood.

NCT01795131 Nutritional Anemia in Mothers. Nutritional Anemia in Infants.
MeSH:Anemia
HPO:Anemia

2 Interventions

Name: Vitamin B12

Type: Dietary Supplement
Group Labels: 1

Vitamin B12

Name: Placebo

Type: Dietary Supplement
Group Labels: 1

Placebo


Primary Outcomes

Description: The investigators will determine the percentage of nutritional anemia in mothers by measuring Hb, ferritin, sTfR, B12 levels in plasma. They will also measure urinary MMA and tHcy and B12 levels in breast milk.

Measure: a) Percent reduction in nutritional anemia among mothers (based on measurement of Hb, ferritin, sTfR, folate, B12 levels in plasma; urinary MMA and tHcy; B12 levels in breast milk.)

Time: 24 months

Description: Influenza vaccine-specific antibody responses (IgA, IgG) in plasma and colostrum/ breast milk [secretory IgA (s-IgA)] will be measured by ELISA. PBMC will be stimulated with Flu vaccine for blastogensis response.

Measure: Increase in influenza vaccine specific cellular and humoral responses among mothers (blastogenesis and T cell phenotyping,serum IgA, and IgG).

Time: 24 monnths

Description: Influenza vaccine-specific antibody responses (IgA, IgG) in plasma and colostrum/ breast milk [secretory IgA (s-IgA)] will be measured by ELISA. PBMC will be stimulated with Flu vaccine for blastogensis response.

Measure: Increase in influenza vaccine specific immunity in infants by passive transfer (vaccine specific IgG in cord blood and breast milk and IgA in children at 3 mo).

Time: 24 months

Description: The investigators will determine the percentage of nutritional anemia in mothers by measuring Hb, ferritin, B12 levels in plasma.

Measure: Percent reduction in nutritional anemia in infants (based on measurement of Hb, ferritin, B12 levels in plasma;

Time: 24 months

Secondary Outcomes

Description: Genomic DNA methylation will be measured by the methyl acceptance assay . Total homocysteine (tHcy) will be measured in urine samples by using HPLC with fluorimetric detection. Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing.

Measure: Effect of B12 status on DNA methylation and one-carbon metabolism in mother-child pairs.

Time: 24 months

Description: Participants will be interviewed on their mental status using the Centre for Epidemiological Studies-Depression questionnaire. The questionnaire contains 20 items comprising six major aspects of depression: depressed mood, hopelessness, worthlessness, fatigue, appetite and sleep disturbances. It has been previously used in rural and urban Bangladeshi women (J Hamadani) and found to correlate sensibly to children's growth and development. The interview will be conducted twice at the homes of the women first at baseline and at 3 mo postpartum.

Measure: Reduce depression scores

Time: 24 months

Purpose: Health Services Research

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 C677T

Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing.. Reduce depression scores. --- C677T ---

Mutations in the ALPL, MTHFR C677T and FUT2 genes will be determined by PCR- RFLP assay and DNA sequencing. --- C677T ---



HPO Nodes


HPO:
HP:0001903: Anemia
Genes 774
LCAT KMT2D RPS7 TNFSF11 GSS PET100 COL7A1 GATA1 EPB41 TERT NHLRC2 NTRK1 FANCM RPS15A PTF1A NLRP3 MALT1 HPGD FMO3 SHPK PSAP TERT HBB RPL15 STK11 AK1 WAS SDHA TARS1 PKLR TTC7A HBA1 PHGDH RARA ALAS2 BRIP1 RPL26 FDX2 CD81 PNPO UROS SLC19A2 ATRX ERCC8 FANCG TET2 GP1BA TERC RPL35 CFHR1 SURF1 ALAD CASP10 EPHB4 ACTN4 LMBRD1 ABCB7 NOD2 CPOX TRNW VPS45 SPTB PHGDH PRKCD KCNE1 EPO FOXP1 TINF2 ADA2 PHKG2 CFI USB1 AMN NLRP3 SPTB NDUFAF6 STAT2 CR2 ACVRL1 AMMECR1 STX11 MEFV LIG4 THRA TSR2 RPL35 SBDS FANCL FAS TCIRG1 CALR SLC25A10 COX10 HBA1 SLC2A1 VPS33A HMGCL COX15 MDM4 SLC4A1 CTLA4 FLI1 MMADHC HBA2 TINF2 SCO2 CASK TFRC HBA2 EXT2 NLRP3 FANCF MTRR ND4 RPS19 STAT1 PLEKHM1 DGKE RPS28 RMRP IFT140 UQCRFS1 NPHP4 BMPR1A TRNN SLC19A3 BTK PSMB9 STIM1 UMPS SMAD4 ITGB3 FANCC SMAD4 ISCU STAT1 SNX10 TERT FANCI FAS NDUFS2 SCARB2 HBB MMAA GPX1 FARS2 GALNT2 CP ECHS1 SBDS RFXAP TTC7A RAG1 UROS TRNS2 NLRP1 RASGRP1 ATRX FANCA ABCD4 MARS1 RPS19 HBB ENG TYMP DHFR GPI LPIN2 KIF23 RPS24 NPM1 SLC2A1 TACO1 IFNG ANK1 AASS CTLA4 MMUT RPS29 KLF1 CFB UMPS MYSM1 ERBB3 NSUN2 FERMT1 DNAJC21 UROD HBA2 LYRM7 RPS10 ELANE WFS1 RPS26 EWSR1 PIGA ABCB6 HPRT1 FANCF HBG2 SLC29A3 THBD RAG2 SLC46A1 PGM3 MMUT FANCE COL7A1 PALB2 PNP IL12B MYSM1 SPTA1 ATRX FASLG COX4I2 RFXANK PIEZO1 EPB41 GBA ENG SPTA1 MPLKIP PARN LAMC2 RAG2 TPI1 FECH ALAS2 GNA14 FANCC CD59 PEPD RPL5 ZBTB24 IDH1 ATP7B CLCN7 GCLC IL2RB FARSA RPS10 STAT4 SPTA1 MLX KRAS KLF1 HBB TBCE BRCA2 SPTB RNF113A FASLG DNAJC19 GATB PNPO BRCA1 CISD2 GSS GDF2 HAVCR2 CFH STAT3 SRD5A3 NDUFA2 PRKAR1A IDH2 SNX10 COX3 CD3G NDUFV2 CTSK TREX1 ACVRL1 TFR2 MTTP NBN NRAS LPIN2 CLCN7 SLC12A3 ADA NDUFAF3 NDUFAF2 CFH CRIPT FANCB STAT3 HLA-B SLX4 CLCNKB SLC25A13 DNMT3B TCN2 RPL31 YARS2 RPS26 ORAI1 IRF2BP2 ASXL1 SAMD9 RPL5 RPS27 CD247 SURF1 RPS24 RPL35A FTCD TREX1 ASAH1 UBE2T SRP54 GBA DKC1 TCIRG1 ITGA2B LAMB3 MMAB HBB NFKB1 IRAK1 RECQL4 RPL27 DNAJC19 TALDO1 STEAP3 UNC13D LAMB3 NDUFS2 NFKB2 PHKA2 ANK1 HBD LAT HELLS PCCB MTHFD1 KCNN4 ERCC4 LARS2 OCRL DKC1 GATA1 POLG RHAG ADA2 BPGM TSR2 TET2 PML SARS2 MTRR BMPR1A GYPC HBA2 CP COL4A1 TBL1XR1 EFL1 TERC ATRX TF BMPR1A LIG4 PARN ATP7B PFKM REN DCLRE1C WFS1 FANCA ACAD8 NHP2 FANCB PRKCD PLA2G4A IL2RG OSTM1 PTH1R GCLC SMPD1 SLC4A1 RHAG WT1 LIPA RAG2 CLPX SDHC FCGR2A SMAD4 KDM6A BTNL2 IRX5 PSMB4 FANCG UBR1 ND6 MS4A1 G6PD GATA1 NPM1 ZBTB16 ERCC6L2 TINF2 COL7A1 BMPR1A RPS27 PUS1 IFNG KIT RRM2B LAMA3 IKZF1 ABCG8 LMBRD1 TF HBB HBG1 GALT GATA1 CASR RAD51C PRDX1 MUC1 PLEKHM1 MTR IGH CYBC1 ITGB4 FANCD2 RAG1 PRKACG EPB42 TCIRG1 COX1 FERMT3 MYD88 AGGF1 NPHP1 RPL11 NT5C3A RIPK1 KCNN4 MPL SLC40A1 SLX4 FOXP3 RPL27 CBL PPOX CA2 RPL11 GREM1 STAT5B STXBP2 GLRX5 TET2 SLC7A7 STK11 PCCA CD46 SMAD4 DAXX ABCB7 PACS2 RPS15A GLA HBA2 SF3B1 RPL15 TERT FANCD2 PTPN22 IL7R FECH SMARCAL1 HBB KIT G6PC3 TMEM67 DNAJC21 IL2RA CTC1 GSR SLC35C1 PNP SP110 EPB42 SLC4A1 NDUFA12 NBN TRNS1 FCGR2B TRNH RAG1 AGXT ACD TGFB1 ZAP70 C3 IFNGR1 SLC7A7 DNM1L NFKB1 LAMA3 RMRP HBB ND1 ABCA1 SLC19A2 TKFC STING1 RPS14 CASP10 TNFRSF13C RPS17 TBXAS1 RPL18 TRNQ MECOM PGK1 SBDS TNFSF11 PDGFRA CAT KIF15 ADA XRCC4 BCL10 TNFAIP3 PRF1 GBA SLC4A1 NUMA1 PDHA1 JAK2 TNFRSF11A GLA FANCL CD40LG LARS1 MMACHC SLC25A38 CUBN TMPRSS6 GBA MPIG6B SPP1 ELMO2 FOXP3 STIM1 RPL35A KIF1B SDHA TRNF TPP2 RAG1 NDUFV1 HMGCL HBB RPL18 SLC4A1 HBB-LCR ACP5 SPTB NDUFA13 MMP1 NDUFA4 ATRX PCNT PRKCD RPS7 RPL26 COG1 RMRP PIEZO1 PLEC ABCA1 NHEJ1 ABCD3 ANAPC1 SPTA1 FAM111A TNFSF12 DBH NDUFS3 LIPT1 RPS28 RAC2 SLCO2A1 SLC25A21 SDHB CHD7 NABP1 TNFRSF4 CFI PHF21A NPHP4 TRNT1 SRP54 HBB LYST HMOX1 APOA1 ADAMTS13 NDUFA10 GATA1 HSPA9 RPS17 GBA ENG PFKM FAM111A DDX41 CLCN7 YARS2 COL7A1 NDUFB8 RHAG NDUFS7 HYOU1 TNFSF12 TOR1A ZBTB20 SLC4A1 NDUFS8 ATP11C FANCE WIPF1 TGFB1 NDUFAF5 PSTPIP1 BCOR CAD SAMD9L TRNW MAD2L2 NPHP1 CD19 SURF1 TP53 LAMC2 SMARCD2 BRCA1 MPL PSMB8 GATC CCND1 CLCN7 MMACHC KRT14 ALDOA SRSF2 ALG8 NOP10 TRNS1 FOXRED1 OPA1 ETV6 HK1 TALDO1 ERCC2 COX2 COQ2 TEK STEAP3 TERC ALX4 RPS14 RTEL1 RASGRP1 HBB MAD2L2 GATA1 PGM3 CDCA7 PUS1 SEC23B SAMD9L HBA1 SLC46A1 MTFMT ICOS COL17A1 PIGT RFX5 DCLRE1C HBG2 CDAN1 IREB2 CDIN1 HBB TNFRSF13B F8 TET2 HAMP WAS F2 WRAP53 HBG1 NDUFS1 FAS TET2 KCNQ1 STIM1 ADAR PTEN SMARCAL1 SRD5A3 GTF2H5 TERT RUNX1 HPRT1 CIITA SLC11A2 PLEC BIRC3 SPTA1 EFL1 TBXAS1 RBM8A NLRC4 CFHR3 RAD51 PRF1 TRNT1 QRSL1 NDUFA9 HBA1 ALPL XRCC2 CBLIF GATA1 ITK ERCC6 PKLR FARSB TRNL1 CTC1 ANK1 LYST GBA ACVR1 PGK1 FIP1L1 ALAS2 RFWD3 ND5 APC DNASE1 CA2 HLA-B MMP1 NDUFS4 HLA-DRB1 AK2 CD55 DKC1 RPS29 SFXN4 HELLPAR LRBA GTF2E2 ERCC4 HBA1 UBE2T SEC61A1 ERCC3 RTEL1 COA8 CD46 VPS33A ITGB4 MVK
Protein Mutations 4
C282Y C677T H63D V617F