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 NCT03196882

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

Effectiveness of Adaptation of the Dose of Iron Supplementation in Pregnancy on Maternal-child Health. Randomized Clinical Trial (ECLIPSES)

Currently, there is no consensus regarding iron supplementation dose that is most beneficial for maternal and offspring health during gestation. This deficit, or excess, of iron prejudices the mother-child wellbeing. Therefore the hypotheses are that an iron supplementation adapted to values of hemoglobin at the start of the pregnancy will would be more effective in preventing iron deficiency, without increasing the risk of hemoconcentration by the end of pregnancy. This would be helped optimize mother-child health status. The aims of the study are to determine the highest level of effectiveness of iron supplementation adapted to hemoglobin (Hb) levels in early pregnancy, which would be optimum for mother-child health. To accomplish this objective a Randomized Clinical Trial (RCT) triple-blinded was designed. The study is structured as a RCT with 2 strata, depending on the Hb levels before week 12 of gestation. Stratum 1: If Hb from 110 to 130 g/L, randomly assigned at week 12 to receive iron supplement of 40 or 80 mg/d. Stratum 2: If Hb >130 g/L, randomly assigned at week 12 to receive iron supplement of 40 or 20 mg/d. This study will be conducted in non-anemic pregnant women at early gestation stage, and their subsequent newborns. The data recollected to mothers will be: socio-economic data, clinical history, food item frequency, lifestyle and emotional state, and adherence to iron supplement prescription. In addition, biochemical measured will be Hemoglobin, serum ferritin, C reactive protein, cortisol, and alterations in the HFE gene (C282Y, H63D). In children, the data collected will be: ultrasound fetal biometry, anthropometric measurements, and temperament development Should conclusive outcomes be reached, the study would indicate the optimal iron supplementation dose required to promote maternal and infant health. These results would contribute towards developing guidelines for good clinical practice.

NCT03196882 Anemia Ferropenic Risk of Hemoconcentration (Iron Levels Risk of Hemoconcentration (Iron Levels > Risk of Hemoconcentration (Iron Levels >130g/L)
MeSH:Anemia Anemia, Iron-Deficiency
HPO:Anemia Iron deficiency anemia

3 Interventions

Name: 40mg/day of iron

Description: Ferrimanitol ovalbumin granulated. Powder for oral solution. The doses of 40 mg per day of elemental iron correspond to 300 mg ferrimanitol ovoalbumin
Type: Drug
Group Labels: 2

Stratum 1: 40 mg/day of iron stratum 2: 40 mg/day of iron

Name: 20mg/day of iron

Description: Ferrimanitol ovalbumin granulated Powder for oral solution. The doses of 20 mg per day of elemental iron correspond to 150 mg ferrimanitol ovoalbumin
Type: Drug
Group Labels: 1

stratum 2: 20 mg/day of iron

Name: 80mg/day of iron

Description: Ferrimanitol ovalbumin granulated. Powder for oral solution The doses of 80 mg per day of elemental iron correspond to 600 mg ferrimanitol ovoalbumin.
Type: Drug
Group Labels: 1

Stratum 1: 80 mg/day of iron


Primary Outcomes

Description: - Anemia is defined as Hb <110 g/L in the 1st and 3rd trimester, Hb <110 in 2nd trimester (Centers for Disease Control and Prevention, 1998).

Measure: Anemia

Time: at week 36 of gestation (3rd visit of study)

Description: - Ferropenic anemia is defined as: Hb < the normal limit, and serum ferritin (SF) <15 μg/L (WHO, 2007)

Measure: ferropenic anemia

Time: at week 36 of gestation (3rd visit of study)

Description: - Hemoconcentration risk is defined as: Hb >130 g/L in the 2nd and /or3rd trimester (Peña-Rosas y Viteri, 2009).

Measure: Risk of hemoconcentration

Time: at week 36 of gestation (3rd visit of study)

Secondary Outcomes

Description: Presence or absence of polymorphisms: C282Y and H63D

Measure: C282Y polymorphisms of HFE gene

Time: Blood analysis at 12 weeks of gestation.

Description: weight (g)

Measure: Anthropometric parameters of newborn.

Time: At birth

Description: Units on a scale (score).

Measure: Neurorconductual development of newborn (Bayley Scales)

Time: 40days post-partum

Description: Presence or absence of polymorphisms: C282Y and H63D

Measure: H63D polymorphisms of HFE gene

Time: Blood analysis at 12 weeks of gestation.

Purpose: Prevention

Allocation: Randomized

Parallel Assignment


There are 2 SNPs

SNPs


1 C282Y

In addition, biochemical measured will be Hemoglobin, serum ferritin, C reactive protein, cortisol, and alterations in the HFE gene (C282Y, H63D). --- C282Y ---

- Hemoconcentration risk is defined as: Hb >130 g/L in the 2nd and /or3rd trimester (Peña-Rosas y Viteri, 2009).. C282Y polymorphisms of HFE gene. --- C282Y ---

Presence or absence of polymorphisms: C282Y and H63D. --- C282Y ---


2 H63D

In addition, biochemical measured will be Hemoglobin, serum ferritin, C reactive protein, cortisol, and alterations in the HFE gene (C282Y, H63D). --- C282Y --- --- H63D ---

Presence or absence of polymorphisms: C282Y and H63D. --- C282Y --- --- H63D ---

Units on a scale (score).. H63D polymorphisms of HFE gene. --- H63D ---



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