SNPMiner Trials by Shray Alag

L858R (332) T790M (322) V600E (266) T315I (107) L861Q (92) M184V (68) V617F (58) K65R (53) G20210A (53) V600K (52) C282Y (50) V66M (49) G551D (42) P13K (39) C677T (35) A118G (29) I84V (27) V158M (26) H63D (25) V32I (24) S768I (24) I50V (23) I47V (21) K103N (21) K27M (20) Y181C (20) L33F (19) T380A (18) L76V (18) G12C (18) D842V (18) R117H (17) D816V (17) S1251N (17) S1255P (17) G178R (17) G1244E (17) S549R (17) G1349D (17) V82A (16) M41L (16) S549N (16) C3435T (16) G551S (16) Q151M (16) Q12H (15) K219Q (15) I54L (15) K70E (14) C797S (14) G719A (13) L90M (13) L74V (13) E138A (13) D67N (13) K70R (13) L89V (13) L210W (13) Y188L (13) G11778A (12) P4503A (12) L265P (12) M46I (12) I54M (12) G12D (12) E255K (12) V11I (12) R132H (12) G48V (11) V299L (11) D961H (11) T74P (11) R192G (11) T25W (10) K101E (10) G2677T (9) V106A (9) G12V (9) M184I (9) H221Y (9) V30M (9) Y253H (9) V600D (9) G1691A (8) F317L (8) F227C (8) T215Y (8) I50L (8) A1298C (8) L100I (8) I148M (7) N155H (7) F359C (7) S298P (7) G190A (7) M230I (7) C1236T (7) V600R (7) Y188C (7) G2019S (7) Q12W (6) P225H (6) Y93H (6) V108I (6) A3243G (6) G93A (6) G73S (6) P12A (6) Y115F (6) E545K (6) Q148H (6) Y537S (6) E542K (6) I10A (6) M230L (6) H1047R (6) N40D (6) D299G (6) N236T (6) D30N (6) M235T (6) T315A (6) D538G (6) T87Q (5) I47A (5) L74I (5) E92Q (5) N680S (5) A455E (5) M204V (5) D1152H (5) L755S (5) G13D (5) G190S (5) N363S (5) A181V (5) V179L (5) L24I (5) N88S (5) A2143G (5) T399I (5) M36I (5) F53L (5) R263K (5) R132C (5) V777L (5) T1405N (4) D579G (4) G719C (4) N370S (4) R117C (4) Q16W (4) L98H (4) A98G (4) K20M (4) E138G (4) E138K (4) L31M (4) E157Q (4) L10F (4) Q80K (4) C31G (4) G1202R (4) Q252H (4) L206W (4) P140K (4) C19P (4) I54V (4) K76T (4) Y537C (4) I1314L (4) S945L (4) Y402H (4) P1446A (4) V179D (4) N88D (4) A6986G (4) A1166C (4) G970R (4) Y181I (4) R352Q (4) G2385R (4) S310F (4) P67L (4) R1070W (4) G140A (4) E23K (4) S463P (4) T14484C (3) G719S (3) R206H (3) S1400A (3) S1400I (3) A71V (3) C134W (3) R24W (3) C481S (3) T24H (3) V122I (3) T47D (3) A636P (3) S977F (3) G118R (3) G3460A (3) N312S (3) D988Y (3) L444P (3) V659E (3) V769L (3) A147T (3) E10A (3) Q24W (3) L861R (3) R678Q (3) Q27E (3) E17K (3) Q148R (3) A1555G (3) S49G (3) Y537N (3) R16G (3) I10E (3) V158F (3) G21210A (3) K55R (3) V205C (3) Y181V (3) A2142G (3) R506Q (3) E298D (3) L211A (3) R172K (3) V843I (3) Y143R (3) R572Y (3) G143E (3) G1321A (3) V842I (3) H295R (3) G140S (3) T60A (3) P23H (3) F11N (2) S1009A (2) H275Y (2) T733I (2) F1074L (2) I1307K (2) Q36W (2) G250E (2) S77Y (2) E28A (2) E28C (2) E28D (2) T66A (2) S1400C (2) S1400E (2) S1400D (2) L833F (2) D1790G (2) S1400G (2) S1400F (2) R334W (2) L8585R (2) I105V (2) N375S (2) V560G (2) A194T (2) T20S (2) T69D (2) T69S (2) Y93C (2) E138R (2) E138Q (2) F359V (2) R776H (2) Q422H (2) D110H (2) D110E (2) R753Q (2) R404C (2) C283Y (2) L31F (2) S252W (2) L460D (2) L33I (2) R140W (2) R140L (2) R140Q (2) V106I (2) V106M (2) E709K (2) V697L (2) P50I (2) P535H (2) P51S (2) G1314A (2) S492R (2) G308A (2) V191T (2) G71R (2) T215F (2) E56K (2) A2063G (2) D769H (2) L248V (2) E280A (2) Q21D (2) E504K (2) Q141K (2) R496H (2) S100P (2) T128N (2) L536R (2) L536Q (2) L536P (2) A143T (2) T97A (2) G3556C (2) K751Q (2) T4396G (2) V151L (2) G170R (2) A581G (2) L536H (2) G12R (2) L180M (2) W153Q (2) G193E (2) V173L (2) F876L (2) R479H (2) L82M (2) Q28D (2) G190E (2) R347H (2) K601E (2) G16R (2) R831C (2) G5271C (2) V75I (2) G681A (2) A270S (2) L63P (2) L869R (2) P236L (2) R831H (2) T13D (2) H1047L (2) C3670T (2) V34L (2) E255V (2) G469A (2) V57I (2) L144F (2) M233I (2) C825T (2) C8092A (2) G776C (2) G776V (2) F121Y (2) R172S (2) R172W (2) R172M (2) Q192R (2) R172G (2) E380Q (2) F166L (2) A200V (2) Y121F (2) G145R (2) K101P (2) R61C (2) V600M (2) F31I (2) K540E (2) K103H (2) R132V (2) D1270N (2) R1628P (2) R132S (2) V534E (2) R132G (2) R132L (2) V207I (2) K238N (2) G4655A (2) S112A (2) I169T (2) I84A (2) Y129S (1) G1388A (1) S77F (1) R20A (1) V140A (1) C686A (1) I1768V (1) E25K (1) K652E (1) C420R (1) S9304A (1) R337H (1) C421A (1) V189I (1) K304E (1) A7445G (1) D19H (1) L304P (1) Y454S (1) A133S (1) M9T (1) P596L (1) E318D (1) C1156Y (1) N171K (1) A7445C (1) V82F (1) G47A (1) R447H (1) G47E (1) V82L (1) R776C (1) A92T (1) E27Q (1) F1052V (1) P27A (1) A289T (1) L523S (1) H54Y (1) T1095C (1) S428F (1) R400C (1) D313Y (1) Q12M (1) R139C (1) A393T (1) W719R (1) T862I (1) T66K (1) T66I (1) G49A (1) R48G (1) H58C (1) D203E (1) I104F (1) K656E (1) T40S (1) D312N (1) L747P (1) G276T (1) L747S (1) R200W (1) I1171N (1) Q14D (1) S1400K (1) R115G (1) F17L (1) A71T (1) S339F (1) A71L (1) I431V (1) F317V (1) F317S (1) G20201A (1) F317C (1) G2545R (1) C377T (1) P243R (1) S9346A (1) R25L (1) L528M (1) Q222R (1) I22M (1) I107M (1) C1858T (1) L859R (1) G2032R (1) A859S (1) G389D (1) V148I (1) K65E (1) V148G (1) C242T (1) G389R (1) H369P (1) A98S (1) G2500A (1) I349V (1) I107V (1) V561D (1) C481R (1) L833V (1) P200T (1) G1051A (1) Y93F (1) Y414C (1) Y1248H (1) K65N (1) L74M (1) P4502C (1) Y1248C (1) Y1248D (1) F227R (1) V89L (1) T164I (1) H1124D (1) C94A (1) G1628A (1) A2215D (1) E200K (1) F227L (1) I305F (1) N682S (1) T1010I (1) I655V (1) R885H (1) G7444A (1) R776G (1) E354Q (1) A21443C (1) M351T (1) R620W (1) A54T (1) D594G (1) F311L (1) T49A (1) F116Y (1) H870R (1) G205S (1) E355G (1) R535H (1) I767M (1) L55M (1) E571K (1) L55R (1) M2540A (1) E92K (1) G238A (1) L838P (1) E6V (1) L814P (1) K509I (1) V21I (1) G699A (1) V167F (1) D949V (1) L33P (1) M66V (1) D61804R (1) R849W (1) V762A (1) D816H (1) V108M (1) V326L (1) V411L (1) L10D (1) L58H (1) E158K (1) N334K (1) A1067T (1) S1800A (1) G894T (1) G202A (1) C282T (1) I191V (1) G435A (1) K1060T (1) A10H (1) R272G (1) V654A (1) V106T (1) C1091T (1) I638F (1) P317R (1) V433M (1) S230R (1) N550H (1) R4E (1) P1058A (1) M244V (1) N550K (1) E709Q (1) G304A (1) T124A (1) S253N (1) M680I (1) G1316A (1) M552V (1) M552I (1) R182H (1) D835V (1) A871E (1) D835Y (1) A677G (1) C1950G (1) H1505R (1) A893S (1) L597Q (1) S2808A (1) N55H (1) K28M (1) D89E (1) A38G (1) L485W (1) M9346A (1) L159F (1) A437G (1) R92Q (1) V29C (1) L38V (1) G135C (1) A677V (1) C34T (1) G93R (1) R270H (1) V321A (1) C10D (1) G308V (1) R122W (1) D614G (1) H2507Q (1) D20W (1) G309A (1) G721A (1) G309E (1) I90P (1) C59R (1) C416R (1) G71A (1) Q61R (1) Q61L (1) H835L (1) R498L (1) V941L (1) Q62E (1) R389G (1) D769N (1) G156A (1) E1784K (1) G98T (1) Q65E (1) T92A (1) S239D (1) C656G (1) R451C (1) G73C (1) G5665T (1) R72P (1) F64L (1) L248R (1) M204I (1) R149S (1) A105G (1) M28L (1) D769Y (1) V769M (1) R75T (1) E193K (1) T890M (1) P250R (1) P58A (1) L532S (1) S147G (1) S1235R (1) K660E (1) T454A (1) R76K (1) L1213V (1) V742I (1) V1238I (1) R74W (1) T102C (1) K3048A (1) T93M (1) D961S (1) G1269A (1) R277W (1) P187S (1) Q20W (1) A561P (1) V740A (1) T783I (1) T674I (1) T783A (1) S8814A (1) V90I (1) C325G (1) Q188R (1) R30H (1) C785T (1) S100A (1) R496L (1) G174S (1) L798F (1) V765A (1) P11A (1) C18S (1) L798H (1) G1049R (1) V765M (1) S366T (1) R230C (1) G1376T (1) H396R (1) H396P (1) S65D (1) T1191I (1) A277G (1) L755A (1) H131R (1) T878A (1) T854A (1) P253R (1) C1494T (1) L755P (1) P120H (1) E525K (1) C102T (1) Y1253D (1) G196A (1) A145T (1) K70N (1) L861G (1) H43R (1) I76V (1) C344T (1) F1174V (1) R677W (1) S9313A (1) I112T (1) G10V (1) R10C (1) F1174L (1) R10A (1) K860I (1) R34P (1) F1174C (1) R108K (1) I112M (1) V151I (1) I332E (1) S1369A (1) R32Q (1) N409S (1) C563T (1) Q24H (1) I113T (1) D761Y (1) N291S (1) Y114C (1) V151A (1) G34A (1) G1069R (1) R896C (1) S567L (1) A827G (1) G12S (1) I54T (1) D565H (1) Y113H (1) P367L (1) R102G (1) R368H (1) M3002A (1) P125A (1) V282M (1) M1040E (1) E545G (1) E545A (1) G398A (1) E545D (1) G12A (1) L409P (1) S1787N (1) S784P (1) L841V (1) R14C (1) V943A (1) S9333A (1) Q148K (1) Q148E (1) M1043I (1) Y220C (1) T416P (1) A3669G (1) R38H (1) T961C (1) V1110L (1) T961G (1) L84F (1) S108N (1) C365Y (1) A719G (1) D237E (1) G37R (1) D104N (1) S653C (1) S786I (1) V834I (1) Y376C (1) G3514C (1) G594A (1) G1947A (1) G190C (1) V834L (1) Q546R (1) F522C (1) Q546L (1) Q546K (1) P699S (1) F2004L (1) D101H (1) T393C (1) A1330T (1) R988C (1) H48Q (1) T174M (1) A62V (1) G595R (1) A62T (1) L84V (1) M165I (1) V222A (1) P479L (1) G908R (1) Y318F (1) V75M (1) D101Y (1) I10F (1) D90V (1) H1112L (1) G269S (1) R3500Q (1) V30A (1) S282R (1) D919G (1) I665V (1) H1112Y (1) D90A (1) C385A (1) M95L (1) G1170S (1) V244M (1) G17T (1) S26E (1) N251K (1) W574C (1) G464V (1) C807T (1) V77I (1) Y449D (1) C168H (1) D4064A (1) M50I (1) Q215S (1) F106C (1) K56M (1) G465R (1) G598V (1) S769N (1) E586K (1) T1482I (1) L1196M (1) E148Q (1) T12W (1) S720P (1) Y641S (1) S768R (1) F129L (1) Y641N (1) C938A (1) C165V (1) R19C (1) C383R (1) Y641H (1) C805S (1) Y641F (1) W64R (1) Y641C (1) H1047Y (1) M1268T (1) A736V (1) C61G (1) P1009S (1) V481F (1) S1612C (1) Q546E (1) L718P (1) V179F (1) G106R (1) M1002A (1) P300D (1) S131F (1) N63L (1) W21C (1) L144S (1) M1149T (1) H558R (1) S373C (1) A69S (1) V1180L (1) V774A (1) T377M (1) V689M (1) V774M (1) D164V (1) L387M (1) R199W (1) N86S (1) M694V (1) N86Y (1) G11053T (1) R175H (1) T17M (1) Y86N (1) A2144G (1) A2059G (1) N345K (1) D50W (1) I180V (1) A864V (1) L24E (1) V118I (1) G212S (1) I843S (1) N1303K (1) R1623Q (1) A1033V (1) L1198F (1) N1325S (1) Q812R (1) V773M (1) G212A (1) A997T (1) S241T (1) E167K (1) G1764A (1) G80A (1) E62D (1) E274Q (1) M34T (1) G401S (1) A2142C (1) G1631D (1) G211A (1) D76Y (1) D76N (1) E384G (1) V249I (1) M1106C (1) L234I (1) L101I (1) A2143C (1) K806E (1) A687V (1) A119S (1) P1028S (1) A313G (1) D824V (1) S9C (1) C182A (1) S9G (1) S153F (1) S1900E (1) S1900D (1) S1900C (1) R1644H (1) S1900A (1) R702W (1) T1456G (1) T1565C (1) E1021K (1) K15210D (1) G779C (1) G82S (1) G779F (1) G840A (1) V18M (1) A27L (1) L28M (1) T351I (1) K121Q (1) L28P (1) H180Q (1) G779S (1) M11T (1) M11Q (1) P549S (1) N215S (1) G60D (1) R352W (1) G623R (1) G84E (1) E161K (1) G951A (1) C23S (1) E184K (1) V1206L (1) Y842C (1) V736A (1) L432V (1) E89Q (1) R135W (1) Y253F (1) G843D (1) D820Y (1) F77L (1) S311C (1) D10W (1) Y143H (1) G86R (1) Y143C (1) R112H (1) Y143A (1) A227G (1) K101Q (1) R463C (1) G85E (1) L236P (1) A310V (1) T798M (1) S310Y (1) R222C (1) A4917G (1) T798I (1) E44D (1) L302P (1) Q30R (1) L786V (1) R287Q (1) P286R (1) D36Y (1) R263Q (1) T599I (1) K103M (1) S680N (1) K1270A (1) R88Q (1) T224M (1) P46L (1) N700D (1) A5147S (1) E21G (1) Y822D (1) Q260A (1) Y188H (1) R131H (1) R1070Q (1) C316N (1) T81C (1) T1304M (1) I167V (1) I82A (1) D13H (1) Q54H (1) Q30H (1) L239R (1) Y823D (1) T117S (1) I84T (1) A222V (1) L106V (1) K432Q (1) G163S (1) I1370K (1) G163E (1) K650E (1) E757A (1) R399Q (1) G41S (1) C1895T (1) P392L (1) T334G (1) H274Y (1) R399G (1)

SNPMiner SNPMiner Trials (Home Page)


Report for Mutation G1321A

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

There are 3 clinical trials

Clinical Trials


1 Association of Uremic Sarcopenia and Mitochondrial Copy Number and Its Clinical Correlates in Taiwanese Hemodialysis Patients

Sarcopenia is the decline of muscle mass and strength with age. Evidence suggests that oxidative stress and molecular inflammation play important roles in age-related muscle atrophy. The two factors may interfere with the balance between protein synthesis and breakdown, cause mitochondrial dysfunction, and induce apoptosis. Sarcopenia, inflammation and oxidative stress is highly prevalent in hemodialysis patients and may contribute to mortality. The copy number of mitochondrial DNA (mtDNA) is affected by oxidative stress in blood circulation. This study aimed to test whether mtDNA copy number correlates with oxidative stress and some uremic toxins in nondiabetic hemodialysis(HD) patients. 200 nondiabetic hemodialysis patients and 50 healthy subjects will be enrolled. This study will be performed to investigate quantitative changes in mtDNA occur in HD patients with and without sarcopenia. Copy number of mtDNA in leukocyte DNA is determined by real-time polymerase chain reaction in HD patients and 50 age- and sex-matched control subjects. In addition, correlation of the alterations of albumin redox status, 8-isoprostane, plasma IL-6 ,LBP and TNF-a and as well as various uremic toxins will be performed.

NCT03929458
Conditions
  1. Sarcopenia
  2. Mitochondrial DNA
MeSH:Sarc Sarcopenia

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A. --- G1321A ---

Primary Outcomes

Description: The copy number of the mtDNA and the nDNA is calculated using the threshold cycle number (Ct) and intrapolating from the standard curve. The ratio of the copy number of mtDNA to the copy number of nDNA is measurement of mtDNA content.

Measure: Determination of mtDNA/nDNA Ratio as a measure of mtDNA Content

Time: 1 years

Secondary Outcomes

Description: ndoxyl sulfate (IS) and para-cresol (p-cresol) belong to the group of protein-bound uremic toxins that are poorly cleared by dialysis and are associated with poor clinical outcomes.the group of protein-bound uremic toxins that are poorly cleared by dialysis and are associated with poor clinical outcomes.

Measure: Plasma uremic toxins analysis

Time: 1 years

Description: Total 8-iso-PGF2-alpha concentrations in plasma were measured by a specific enzyme immunoassay (EIA) kit

Measure: Total of 8-iso-PGF2-alpha Analysis

Time: 1 years

Description: The IL-6 was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of IL-6

Time: 1 years

Description: The TNF-α was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of TNF-α

Time: 1 years

Description: The LBP was determined from serum samples and controls using standardized enzymelinked immunosorbent assay (ELISA) methods

Measure: Analysis of biomarkers of Liposaccharide-binding protein (LBP)

Time: 1 years

Description: the fractions of HMA, HNA-1, and HNA-2 to total HSA were measured using HPLC

Measure: Measurement of the Albumin Redox State

Time: 1 years

2 Constipation, Gut Microbiome, and Microbial-derived Uremic Toxins From the Gut Microbiota in HD Patients Is There a Relationship Between Them ?

Chronic constipation is a prevalent, multifactorial gastrointestinal disorder, and its etiology and pathophysiology remain poorly understood. Recently studies using 16S rRNA-based microbiota profiling have demonstrated dysbiosis of gut microbiota in chronic constipation. In addition, alterations of fecal flora of the a group of severely constipated patients had been reported. Constipation, an indicator of gut dysbiosis in dialysis patients, may also pose a greater burden in dialysis patients. Some recent findings highlight the plausible link between the gut and the kidneys and provide additional insights into the pathogenesis of kidney disease progression and development of cardiovascular disease. Yet, the constipation in dialysis patients is usually ignored and not even draw the attention of dialysis physician as an ominous risk factor of constipated dialysis patients. In view of multiple factors link the gut and cardiorenal pathophysiology, and the scarcity of literature on this issue, the aim of this study is want to know if constipation can result in any changes to the intestinal microbiota and is it associated with inflammation, atherogenic profile and levels of microbial derived uremic toxins. Here, the investigators use both self-reported Bristol stool form scale (BSFS) scores and Roman IV criteria to diagnose constipation and 16S rDNA Illumina amplicon profiles of faecal samples of 90 dialysis patients to assess potential associations between microbiota composition and constipation. The relationship between uremic toxins and inflammation will also be explored in the dialysis suffering from constipation.

NCT04309019
Conditions
  1. Constipation
  2. Inflammation
MeSH:Inflammation Constipation
HPO:Colonic inertia Constipation

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A and Agilent 1100 Series UV-Visible detectors G1314A. --- G1321A ---

Primary Outcomes

Description: gut microbiota composition have been associated with increased production of indoxyl sulfate and p-cresyl sulfate, which is directly associated with endothelial dysfunction, inflammation and oxidative stress, and increases in the incidence of CVD and mortality.

Measure: Serum uremic toxins such as indoxyl sulfate, p-cresol and IAA analysis

Time: 1 years

Secondary Outcomes

Description: 16S rDNA Illumina amplicon profiles of faecal samples to assess potential associations between microbiota composition and constipation.

Measure: Stool DNA Isolation and 16S rRNA Gene Amplicon Sequencing

Time: 1 years

3 Association of Uremic Toxins and Sacropenia in Hemodialysis Patients

Background. In advanced chronic kidney disease (CKD), multiple metabolic and nutritional abnormalities may contribute to the impairment of skeletal muscle mass and function thus predisposing patients to the condition of sarcopenia. Herein, we aim to investigate the association of uremic toxins and sacropenia. In addition, the prevalence and mortality predictive power of sarcopenia, defined by different methods, in a cohort of hemodialysis patients. Methods. We plan to evaluate 300 HD patients. Sarcopenia was defined as reduced muscle function assessed by handgrip strength (HGS <30th percentile of a population-based reference adjusted for sex and age) plus diminished muscle mass assessed by different methods: (i) midarm muscle circumference (MAMC) <90% of reference value (A), (ii) muscle wasting by DEXA (B) and (iii) reduced skeletal muscle mass index (<10.76 kg/m² men; <6.76 kg/m² women) estimated by bioelectrical impedance analysis (BIA) (C). Serum levels of 3 established uremic toxins such as indoxyl sulfate, p-cresol and hippuric acid will be measured. Besides, various relevant inflammatory markers will also be assessed. Patients will be followed for up to 3 years for all-cause mortality.

NCT03060590
Conditions
  1. Sarcopenia
MeSH:Sarcopenia

We quantified the analytes by using the analyte to standard peak area ratio on a Agilent 1100 High Performance Fluorescence detector G1321A and Agilent 1100 Series UV-Visible detectors G1314A. --- G1321A ---

Primary Outcomes

Description: To evaluate the association of sacropenia defined according to 1. Low muscle mass 2. Low muscle strength 3. Low physical performance and serum levels of some uremic toxins such as indoxyl sulfate, p-cresol and hippuric acid will be measured.

Measure: Presence of Sarcopenia

Time: 3 years


HPO Nodes


HP:0002019: Constipation
Genes 484
CDKL5 TGIF1 MBD5 SH2B1 TCF4 ND6 TBL1X NODAL COL1A1 VPS35 DHCR7 GTF2IRD1 CAVIN1 COL7A1 APC SHH KIT TSHR NGLY1 ARVCF SIX3 SETD5 LAMA3 PPOX NR4A2 MRPS34 MED13 RORA PACS1 RREB1 MALT1 TTR SOX3 KDM1A ATXN8OS UBE3A CASR SCNN1G NKX2-5 NAB2 POLG LRRK2 FGF8 GAS1 PROKR2 GBA TGFBR2 PODXL FOXH1 IGH CLIP2 SCN10A VPS13C ELN RET CAMTA1 HIRA SPATA5 GP1BB SLC26A4 BRAF MEN1 COX1 ADNP DLL1 SEC24C TXNRD2 SIX3 FOXG1 POLG2 NKX2-5 ELN EXT2 PIK3CA TH TRH SCN11A TLK2 WAC SIK3 VPS11 PMS2 DUOXA2 FOXH1 P4HTM SOX10 IGHMBP2 CDON MLYCD MITF TTR MDH2 EDN3 PPOX HESX1 HESX1 KMT2A GAS1 PROP1 TRIO CREBBP TRNW MRAP HNRNPK KRT14 COL5A1 PCCA DACT1 FOXP1 KRAS CDON KCNJ1 VPS51 SHH DISP1 DDC CHST14 NKX2-1 KIT ZIC2 NFIX SLC12A3 THRA MADD SCN11A OCRL DISP1 SOX3 SLC25A4 KCNH1 KIT MED25 ALDOB FOXH1 TDGF1 FAN1 ADH1C SLC6A3 SEMA3D HPSE2 TRNS1 GLI2 POU1F1 FGF8 TRNH LHX4 PAX8 DEAF1 PPM1D ATXN2 FGFR1 STAR VANGL1 IYD DES NRXN1 TAF1 CACNA1S STXBP1 ND1 ARNT2 PAX8 ND4 FLI1 PCCB CHD8 FLNA ELP1 SCNN1A DISP1 ZEB2 STAG2 LMX1B ARID2 SIX3 TRNQ RAI1 LRIG2 PCCA MSH6 PDGFRA CHRM3 UNC80 RET TRNE ZIC2 MECP2 BCL10 SLC5A5 HMBS MSH2 CAMTA1 FGF8 SHH CREBBP TBCD NODAL SLC26A4 PTCH1 ZIC2 GALNT2 SDHA TRNF STAT6 CDC73 DLL1 RET PEX16 TRHR GJC2 SLC6A8 TRNS2 ODC1 FGFR1 DUOX2 MMP1 CDON LRIG2 GABRA3 PINK1 TSHR NNT OTUD6B CDKN1B TBCD WDR26 FOXG1 PTCH1 GATAD2B DNAJC6 UGP2 GLI2 SLC6A3 WAC TCF4 FDFT1 ALAD TSHB PRKN POLG2 GDNF DSE TCF20 SDHB CD96 FGFR1 SCN9A MC2R PCGF2 DNAJC13 COQ2 DDHD2 RPS20 LMNB1 OTX2 CAMK2B DDOST CDKN2C MED12 SMO ADAT3 SNCA CPOX APC2 MNX1 ASCL1 CNTNAP2 TNFRSF1A MAPT DHPS NSD1 SPOP RAI1 JMJD1C CREBBP COL7A1 GLI2 TRNK TBX1 NRXN1 SDHC ATRX EPCAM ZEB2 EDN3 UFC1 TBL2 TBX1 ABL1 ATRX SCN9A B2M WASF1 FOXA2 GRIN1 CSNK2A1 FOXP1 RFC2 LAMC2 LHX3 MADD PROP1 SNCA RRM2B LIMK1 HESX1 TWNK SIX3 EP300 SPART GLI2 NRTN PSMB8 EP300 PMS1 CDKN2B HTRA2 PROP1 POLG AVPR2 MAGEL2 ATN1 CDON ZMIZ1 HNRNPK EDNRB SOX10 AVPR2 IQSEC2 ATRX ECE1 CISD2 PRDM16 UBE3A DEAF1 ZIC2 AFF4 KRT5 GBA MLH1 FOXE1 EDN3 POGZ COX2 SLC6A8 PAX8 FOXH1 EXT2 TYMP PARK7 RAI1 SYNJ1 COX3 EIF4G1 PIGV LRRK2 FGF8 RERE POLG OTX2 TCF4 SLC12A3 TANC2 SKI TGIF1 WAC POGZ UNC80 HFE SMC1A TDGF1 CHST14 CLCNKB GIGYF2 PTCH1 LHX4 AQP2 PRNP WDR26 HMBS MEFV GLI2 GABRD SEMA4A SRCAP GLUD2 GAS1 GAS1 DMPK POU1F1 DYRK1A UFD1 COQ2 TGIF1 HNRNPH2 SCNN1B GTF2I TNFRSF1A MECP2 MEFV TSHR LAMB3 TG PTCH1 TDGF1 ZSWIM6 MSL3 UBE2A RAI1 BIRC3 MED12L HNRNPK TGIF1 BMPR1A ZEB2 PCCB SETD2 SOX2 NALCN OCRL OTUD6B CREBBP ALPL HIVEP2 TDGF1 PACS1 TRNL1 CDC73 DLL1 CHCHD2 SDHB SHH PHOX2B SLC5A5 CTNS SIX3 SNCAIP MLH3 ND5 STAG2 TBP ATRX AQP2 EP300 DDOST KCNJ18 MAGEL2 MLXIPL RET PAX8 PIGS TPO SLC12A1 WFS1 NODAL ACTG2 GDNF BAZ1B DLL1 VPS11 MED12 CDKN1A COMT USP7 EDNRB FLII SMPD1 COL5A2 NODAL KCNAB2 SDHC TRIO SALL1 DPF2 SEMA3C UCHL1 HPSE2 NALCN BRCA1 OCA2 DISP1 FGF12 TRNL1 UBE3B
Protein Mutations 2
G1314A G1321A
SNP 0