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Report for Clinical Trial NCT01739231

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Safety, Reactogenicity, Tolerability, Immunogenicity and Efficacy of Live Attenuated ETEC ACE527 Vaccine Administered Alone or With a Double Mutant E. Coli Heat Labile Toxin (dmLT) in Healthy Adult Volunteers

This is a research study about an experimental (investigational) oral ETEC vaccine (ACE527). ACE527 is a live attenuated vaccine that is being made to prevent disease from enterotoxigenic Escherichia coli (ETEC), which causes watery diarrhea, largely in children living in developing countries and in travelers to those countries. This research study is also testing an investigational adjuvant called dmLT. An adjuvant is something that is added to a vaccine to make it work better. The purpose of this study is two-fold. First, Part A aims to find out if the vaccine by itself or the vaccine combined with the adjuvant is safe, tolerable, and initiates an immune response. Second, Part B aims to find out if the vaccine by itself or the vaccine combined with the adjuvant prevents diarrheal disease when challenged with ETEC H10407. About 60 healthy adults, ages 18-50, will participate in Part A, and they will be required to stay in the research facility for several nights for the first dose, but will not be required to stay overnight for the second and third doses. Participants will be assigned to receive either the vaccine alone, the vaccine with adjuvant, or placebo by mouth. Study procedures include: stool samples, blood samples, and documentation of side effects. Participants will be involved in study related procedures for about 8 months. Interested volunteers from Part A will along with volunteers who were never vaccinated in Part A will return to participate in Part B. These volunteers will be required to stay overnight in the research facility for several nights after challenge, after which they will be treated with antibiotics and sent home. Study procedures include stool samples, blood samples, and documentation of infection with ETEC H10407. If the vaccine with/without adjuvant is effective, the volunteers should not development diarrhea, but if the vaccine with/without adjuvant is not effective, the volunteers will have diarrhea for a few days.

NCT01739231 Diarrhea
MeSH:Diarrhea
HPO:Diarrhea

4 Interventions

Name: ACE527

Description: 3x10^9 cfu ACE527 vaccine strain. Comprised of three genetically attenuated and engineered strains of E. coli, with antigen profiles covering a wide range of ETEC surface colonization factor antigens (CFA/I, CFA/II [CS1, CS2, CS3] and CFA/IV [CS5, CS6]) and also expressing LTB, the inactive subunit of LT (ETEC heat labile toxin). The constituent strains of ACE527 were: ACAM2025: a live, attenuated, CFA/I, LTB positive strain ACAM2022: a live, attenuated, CS5, CS6, LTB positive strain, and ACAM2027: a live, attenuated, CS1, CS2, CS3, LTB positive strain.
Type: Biological
Group Labels: 2

ACE527 alone ACE527 plus dmLT

Name: dmLT

Description: A derivative of wild-type enterotoxigenic Escherichia coli heat-labile enterotoxin that has been genetically modified by replacing the arginine at amino acid position 192 with glycine and the leucine at amino acid position 211 with alanine (13). These two amino acid substitutions take place in proteolytic cleavage sites which are critical for activation of the secreted toxin molecules.
Type: Biological
Group Labels: 1

ACE527 plus dmLT

Name: CeraVacx placebo

Description: CeraVacx® is used to neutralize gastric acidity upon ingestion of vaccine. It was also used as the placebo in this study. CeraVacx® was prepared from the commercial product (Cera Products, Inc.); 9.5 grams were added to sterile water for each dose and mixed. Each dose contained 7 grams of rice syrup, 2 grams of sodium bicarbonate, and 0.5 grams of trisodium citrate.
Type: Biological
Group Labels: 1

Control: Part A and B

Name: H10407 challenge strain

Description: Approximately 2 x 10^7 cfu of the fully virulent ETEC strain. Previously administered to 91 volunteers at this challenge dose by the CIR clinical team over the previous 4 years in conjunction with other Phase 1/2b trials.
Type: Biological
Group Labels: 4

ACE527 alone ACE527 plus dmLT Control: Part A and B Control: Part B only


Primary Outcomes

Description: Unsolicited adverse events were collected throughout Part A of the study, were graded for severity, and assessed for relationship to vaccine. Withdrawal from the study due to adverse event was determined at the discretion of the study staff.

Measure: Part A: Number of Serious Adverse Events and Adverse Events Leading to Withdrawal

Time: up to 1 month after last vaccination (3 months)

Description: Unsolicited adverse events were collected throughout Part A of the study, were graded for severity, and assessed for relationship to vaccine. Generally, mild severity is discomfort with no disruption of normal daily activities and relieved with or without symptomatic treatment; moderate severity is discomfort sufficient to reduce or affect normal daily activity somewhat and only partially relieved with symptomatic treatment; and severe is discomfort sufficient to reduce or affect normal daily activity considerably; prevents regular activities, and not relieved with symptomatic treatment. Additional description of severity for diarrhea, body temperature, and vomiting is described in the protocol.

Measure: Part A: Number of Participants Experiencing Unsolicited Adverse Events, by Severity and Relationship to Vaccination

Time: up to 1 month after last vaccination (3 months)

Description: Solicited reactions were collected 1 week after each vaccination.

Measure: Part A: Number of Solicited Reactions

Time: up to 1 week after each vaccination (at 0, 1, and 2 months)

Description: Defined as a four-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Fold Change in Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Titer of Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Pre and day 7 post all vaccinations; day 3 post-vaccination 1 and 2; week 4 post vaccination 3

Description: Defined as a four-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Fold Change in Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Titer of Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Pre and day 7 post all vaccinations; day 3 post-vaccination 1 and 2; week 4 post vaccination 3

Description: Defined as a four-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 3 (CS3)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Fold Change in Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 3 (CS3)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Titer of Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 3 (CS3)

Time: Pre all vaccinations; day 3 post-vaccination 1 and 2; day 7 post all vaccinations; 4 weeks post-vaccination 3

Description: Defined as a four-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 6 (CS6)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Fold Change in Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 6 (CS6)

Time: Vaccination 1 Day 3 and 7; Vaccination 2 pre-vaccination, Day 3, and Day 7; Vaccination 3 pre-vaccination, Day 7, and Week 4

Measure: Part A: Geometric Mean Titer of Antibody in Lymphocyte Supernatant (ALS) Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 6 (CS6)

Time: Pre and day 7 post all vaccinations; day 3 post-vaccination 1 and 2; week 4 post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Antibody in Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Antibody in Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin A (IgA) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Serum ELISA Immunoglobulin A (IgA) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Serum ELISA Immunoglobulin A (IgA) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 3 (CS3)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 3 (CS3)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 3 (CS3)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 6 (CS6)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Antibody in Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 6 (CS6)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Serum ELISA Immunoglobulin A (IgA) Response to E. Coli Surface Antigen 6 (CS6)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Antibody in Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Antibody in Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Heat Labile Toxin B Subunit (LTB)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin G (IgG) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Serum ELISA Immunoglobulin G (IgG) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Serum ELISA Immunoglobulin G (IgG) Response to Enterotoxigenic Escherichia Coli (ETEC) Colonization Factor 1 (CFA/I)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Surface Antigen 3 (CS3)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Surface Antigen 3 (CS3)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Surface Antigen 3 (CS3)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Defined as a 2.5-fold rise or greater in geometric mean titer.

Measure: Part A: Number and Percentage of Subjects With Positive Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Surface Antigen 6 (CS6)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Fold Change in Antibody in Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Surface Antigen 6 (CS6)

Time: Day 7 post-all vaccinations; pre-vaccination 2 and 3; week 4 post-vaccination 3

Measure: Part A: Geometric Mean Titer of Serum ELISA Immunoglobulin G (IgG) Response to E. Coli Surface Antigen 6 (CS6)

Time: Pre and day 7 post all vaccinations; and 4 weeks post vaccination 3

Description: Severe diarrhea was defined as >800 grams of grade 3-5 stools passed over the 120-hour observation period. For episodes starting at or before 120 hours post-challenge, volunteers were followed to resolution and the total stool output weight was considered in determining whether a specific volunteer met the primary definition of severe diarrhea. The end of a diarrheal episode occurred when a volunteer did not pass any grade 3-5 stool in a 24-hour period. Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Number and Percentage of Subjects Experiencing Severe Diarrhea Following H10407 Challenge Strain

Time: 5 days

Secondary Outcomes

Measure: Part A: Number of Participants Shedding E. Coli on Qualification Plate

Time: Pre- and day 7 post-all vaccinations; and Day 3 post-vaccinations 1 and 2; and 4 weeks post vaccination 3

Measure: Part A: Number of Participants With Positive Shedding Results for ACE527

Time: Pre- and day 7 post-all vaccinations; and Day 3 post-vaccinations 1 and 2; and 4 weeks post vaccination 3

Measure: Number of Participants Shedding Vaccine Strains Included in ACE527

Time: 3 days after the first and second vaccinations

Description: Defined as mild, moderate, or severe diarrhea, specifically: Mild diarrhea: 2 or 3grade 3-5 stools totaling 200 g - 400 g, or 1 grade 3-5 stool of >300 g Moderate diarrhea: 4-5 grade 3-5 stools totaling >200 g or 401 - 800g Severe diarrhea: > 800g grade 3-5 stool(s) Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Number and Percentage of Subjects Experiencing Diarrhea of Any Severity

Time: 5 days

Description: Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Mean Total Weight of Grade 3-5 Stools Passed Per Volunteer

Time: 5 days

Description: Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Median Total Weight of Grade 3-5 Stools Passed Per Volunteer

Time: 5 days

Description: Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Mean Number of Grade 3-5 Stools Passed Per Volunteer

Time: 5 days

Description: Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Median Number of Grade 3-5 Stools Passed Per Volunteer

Time: 5 days

Description: Solicited reactions were generally graded as mild if there was discomfort, but no disruption of normal daily activities; moderate if if discomfort was sufficient to affect normal daily activity and partially relieved with symptomatic treatment; severe if discomfort was sufficient to affect normal daily activity considerably, prevent regular activity, and not relieved with symptomatic treatment.

Measure: Part B: Number of Subjects Experiencing Solicited Reactions Graded as Moderate or Severe

Time: 1 week

Description: When asking about adverse events, subjects were asked whether their illness resulting from ETEC would have reduced their daily activity because of their illness if they had been vacationing or traveling on business.

Measure: Part B: Number and Percentage of Subjects Who Would Have Reduced Daily Activity

Time: 5 days

Description: Defined as mild, moderate, or severe diarrhea, specifically: Mild diarrhea: 2 or 3grade 3-5 stools totaling 200 g - 400 g, or 1 grade 3-5 stool of >300 g Moderate diarrhea: 4-5 grade 3-5 stools totaling >200 g or 401 - 800g Severe diarrhea: > 800g grade 3-5 stool(s) Grades were defined as follows: Grade 1: firm, formed (normal) Grade 2: soft, formed (normal) Grade 3: viscous opaque liquid or semi-liquid which assumes the shape of the container Grade 4: watery, non-viscous, opaque liquid which assumes the shape of the container Grade 5: clear or translucent, watery or mucoid liquid which assumes the shape of the container

Measure: Part B: Mean Time to Onset of Diarrhea Among Subjects Who Had Diarrhea

Time: 5 days

Measure: Part B: Quantity of H10407 Per Gram of Stool on Day 2 Post-challenge

Time: 2 days after vaccination

Measure: Part B: Number of Subjects Requiring Early Antibiotic Treatment and Intravenous (IV) Fluids

Time: 5 days

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 R192G

LT(R192G/L211A), or dmLT, is a derivative of wild-type enterotoxigenic Escherichia coli heat-labile enterotoxin that has been genetically modified by replacing the arginine at amino acid position 192 with glycine and the leucine at amino acid position 211 with alanine. --- R192G ---



HPO Nodes


HPO:
HP:0002014: Diarrhea
Genes 355
MEFV JAK3 IL2RG CD247 NCF4 PIGT IL2RG MYO5B PMM2 GALT JAK3 MYO5B ITGA2 PTEN ABCB4 USP7 CD40LG IGHM HEXB MLYCD SKIV2L TTC37 TMPRSS15 DCLRE1C MC2R ZAP70 KIF1B NOD2 IL6 ABCC8 HSD3B7 PRKN EFL1 SLC12A3 CARMIL2 POLG LRRC8A ANTXR2 ATP8B1 OTULIN SNCA WNT2B MRAP SLC46A1 CHD7 SERPING1 FOXP3 UCP2 IGKC CPOX ABCB11 IRAK1 CD3D DAXX UCHL1 VPS13C SLC9A3 SMAD4 TSHR SCNN1G CD79B DDC DGAT1 SRP54 ANTXR2 SLC12A1 IL7R BMPR1A BMPR1A AKR1D1 SMAD4 SLC39A4 ICOS ADA DNASE1L3 IL7R GATA6 GREM1 ITGB4 EPCAM B2M ALG3 RFX5 ARX LCK ELP1 DCLRE1C CLCNKB SERPING1 EDN3 MVK LIG4 GINS1 TYMP KRAS PALB2 ELANE CASP8 SCNN1A MCM6 CYP11B2 CD79A PODXL CFH SMAD4 SERPING1 HTRA2 LRBA ACADM SLC5A1 NEUROG3 NBN FBP1 BLNK ITGA2B RET RFXAP DCLRE1C ALG8 SLC26A3 RMRP TCF3 C5 TSHR MEN1 PLVAP RECQL4 ACTG2 EDNRB CDKN2B RET GNS SLC10A2 LCT SCNN1B RAG2 DBH ADA EGFR STAT1 TTC37 STAR WAS RFXANK ALDOB IL21R RFXANK SGSH CDKN1A RFX6 POLG KIF23 PARK7 ACSF3 TTR ATP7A ACSF3 RAG1 TTR CIITA IDUA RFXAP ADA DNMT3B RAG2 NLRC4 CR2 BTK C1R GFI1 LIPA IL2RG TNFRSF13C ATRX SON ACVRL1 SKIV2L PIK3R1 SAR1B KCNJ11 SLC46A1 CD55 TERT SLC7A7 MEN1 COG4 SAA1 GDNF ACAT1 NEUROG3 NAXD SCN11A ITCH CD79A CDKN1B GLA RNF113A RAG1 MGME1 SAR1B ETHE1 RAG1 NNT TLK2 GUCY2C BTK TFRC SMAD4 NHLRC2 CD19 KCNJ1 MVK ETHE1 CLMP STAT4 MVK PHKB IL10RA BRCA2 STAT1 CD79B HLA-B MGME1 SLC39A4 WAS IL21 SMARCD2 SEMA3D AK2 ZAP70 TREH GP1BB IL2RA HMGCL TCN2 BLM TNFRSF1A AGA SUGCT TYMP SLC25A13 MYD88 SAMD9 TNFRSF13B LIPA HPS1 COG6 IKZF1 SLC7A7 NOD2 BTK MPI LRRK2 HMBS RFX5 PPP2R5D ITGA6 CFHR1 ICOS BMPR1A LIG4 TXNRD2 ITGB3 CR2 RAG1 PCSK1 SDHD NAGLU RIPK1 OPLAH AIRE CDKN1B DNAJC6 ERCC2 ALAD HYOU1 HGSNAT C1QA TP53 PPP2R5D AP1S1 CYP27A1 RAG2 SEMA3C RECQL4 CFHR3 SCN9A BMPR1A AVP CCDC47 TCIRG1 RAG2 MAOA RRM2B IKBKB CTLA4 DES PINK1 PKP1 NR3C2 CYP7B1 CIITA SI HADH ADAM17 FOXP3 CPT1A G6PC CD3E PALLD COG4 SPP1 CD247 PIK3R1 STX3 HNF1A NAGS TTC7A TTC7A RNF168 ECE1 PLEC APC HNF4A SLC19A2 IFNGR1 CD3D WIPF1 SLC25A13 SPINT2 NRTN NSUN2 TGFB1 POLA1 NBN IGHM CDKN2A MPV17 BLNK IDS IL7R SP110 F5 PTPRC CDKN2C IGLL1 IL2RB BTD HMGCS2 ENG BRCA1 ENG CD109 CYP27A1 GP1BA
Protein Mutations 1
R192G
SNP 0