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 H275Y

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

There are 2 clinical trials

Clinical Trials


1 Idylla Respiratory (IFV-RSV) Panel Clinical Testing and Sample Collection Protocol in Support of 510(k) Premarket Submission

This clinical study will collect fresh samples and perform laboratory testing on fresh and archived samples as described in the protocol.

NCT02786381
Conditions
  1. Respiratory Tract Infections
  2. Influenza, Human
  3. Respiratory Syncytial Virus Infections
MeSH:Infection Communicable Diseases Respiratory Tract Infections Respiratory Syncytial Virus Infections Influenza, Human
HPO:Respiratory tract infection

The IFV-RSV Panel is an in vitro PCR-based molecular diagnostic assay for the simultaneous qualitative detection of nucleic acids for Influenza A (including H1, 2009 H1N1, H275Y mutation of 2009 H1N1, H3), Influenza B, and Respiratory Syncytial Virus (RSV) (A and B) on nasal swab (NS) direct to cartridge or nasopharyngeal swabs (NP) in viral transport media (VTM) in adults, adolescents, and children. --- H275Y ---

Primary Outcomes

Description: Product Performance will be assessed based on samples collected in 2015/2016 season (average of 6 months) and archived samples.

Measure: Product performance as measured by positive and negative agreement to a predicate

Time: Specimen collected during the IFV-RSV season 2015/2016 will be tested within 1 day of enrollment. The Product Performance will be assessed at study completion, an average of 6 months.

2 A Pharmacokinetic/Pharmacodynamic and Safety Evaluation of Investigational Intravenous Peramivir in Children With Influenza Disease (CASG 117)

The purposes of this study are to evaluate the pharmacokinetics (affect the body has on a drug), and pharmacodynamics (affect the drug has on the body) and safety of an experimental intravenous (within a vein) flu medication, peramivir, in children. Participants will include 63 hospitalized children with confirmed flu. Children will be grouped according to age and younger children will not receive drug until safety data from the groups of older children are reviewed. Hospitalized children may receive up to 5 doses of peramivir. Study procedures include: nasal/throat swabs, reporting any experienced side effects, physical examination including assessment of the nervous system, and blood sample collection. Participants will be involved in study related procedures for up to 28 days.

NCT01063933
Conditions
  1. Influenza
Interventions
  1. Drug: Peramivir
MeSH:Influenza, Human

-Documented H275Y mutation (note: it is unlikely that resistance testing will have been completed for most subjects). --- H275Y ---

Primary Outcomes

Measure: Peramivir dose that provides area under the curve (AUC)24 between 60 microgram (mcg) hour(hr)/liter (L) and 94 mcg hr/L.

Time: Within 15 minutes prior to dosing, and at the following timepoints measured from the time of the start of the infusion: 1-1.25 hours (end of infusion), 2-3 hours, 5-7 hours, 10-12 hours, and 22-24 hours post-dosing.

Measure: Pharmacokinetic parameters for peramivir, including AUC24, maximum serum concentration (Cmax), half-life (T1/2), Clearance (CL), and time to maximum concentration (Tmax).

Time: Within 15 minutes prior to dosing, and at the following timepoints measured from the time of the start of the infusion: 1-1.25 hours (end of infusion), 2-3 hours, 5-7 hours, 10-12 hours, and 22-24 hours post-dosing.

Secondary Outcomes

Measure: Safety: overall incidence of adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of grade 3-4 adverse events or severe adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of adverse events considered to be related to study treatment.

Time: Day 1 to Day 28

Measure: Safety: the incidence of adverse events leading to discontinuation of study drug.

Time: Day 1 to Day 28

Measure: Virologic: proportion of subjects who are negative for viral ribonucleic acid (RNA) by reverse transcriptase-polymerase chain reaction (PCR).

Time: Day 3, 5, and 10.

Measure: Virologic: incidence of treatment emergent peramivir resistant virus.

Time: Study days 1, 3, 5, and 10.

Measure: Virologic: time to no detectable viral ribonucleic acid (RNA) by polymerase chain reaction (PCR).

Time: Study days 1, 3, 5, and 10.

Measure: Virologic: quantitative viral load over time.

Time: Study days 1, 3, 5, and 10.

Measure: Safety: the incidence of severe or grade 3 and 4 treatment related adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of treatment-related serious adverse events.

Time: Day 1 to Day 28

Measure: Safety: the incidence of serious adverse events and deaths.

Time: Day 1 to Day 28


HPO Nodes


HP:0011947: Respiratory tract infection
Genes 816
KMT2D SMARCB1 ABCA12 TNFSF11 TRAIP MAGEL2 DNAAF1 NFE2L2 NFKB2 LCK MAGEL2 SGCG TECPR2 GTF2IRD1 CHAMP1 OFD1 SCNN1G CD247 MGP SPINK5 CTPS1 NTRK1 NGLY1 RELB ZNF341 RSPH9 FCN3 NELFA MALT1 CFTR OCA2 LETM1 PIK3CD FMO3 USP9X HLA-DPA1 DNAH11 ZAP70 UNC119 WAS SIM1 GNPTAB FOXH1 CFAP221 TARS1 LAMB2 MYO5A CD81 ADNP TNFRSF13B MYH6 TSC1 CYBA HLA-DPB1 GNS FOXH1 LIPN KATNIP TPM2 COL6A1 NIPBL SPAG1 IL17RA GAS1 SLC12A6 EFEMP2 CRLF1 GMNN CTLA4 SLC35A1 ADAMTS3 TAPBP SLC25A24 CXCR4 BLM RNU4ATAC CFAP300 FOXP1 CDON CD79A RAG1 VPS51 DISP1 USB1 NEPRO COL11A2 CR2 LAMTOR2 SNORD115-1 MAP3K20 DNMT3B MKRN3-AS1 LYST PIK3R1 ACADVL TDGF1 RFX5 VPS33A MDM4 TBC1D24 NGLY1 GLI2 FGF8 ODAD4 CCDC40 MCM4 CRELD1 ZBTB24 TINF2 ECM1 LRRC6 CFTR COL11A2 CR2 ELP1 TFRC AGA SMPD1 PWRN1 IPW TCIRG1 BLNK FLI1 UBB KIF20A STAT1 MBTPS2 ELP1 SNRPN DISP1 RMRP STAG2 IRF8 SIX3 KIF1A RYR1 IGHM BTK CYP4F22 CXCR4 RSPH1 CCBE1 DNAH11 ZIC2 CSF2RA POLR3A LAMA2 STAT1 SNX10 FGF8 FOXJ1 AICDA SHH RYR1 ODAD1 SIK1 HACD1 CREBBP TNFRSF13B CITED2 OCA2 NODAL NOTCH2 CFAP298 SELENON ZIC2 ALMS1 ODAD4 IDUA DLL1 SBDS COG6 TBX6 RFXAP PEX13 TCTN3 PTPN22 SFTPC MAGEL2 COG4 EPM2A MESP2 TTC12 TBC1D23 SCNN1B TGFB1 MAN2B1 PTCH1 NPM1 EPG5 UGP2 GLI2 GAS2L2 TSC2 RANBP2 SCN11A CTLA4 MESP2 IL21R IL17RC UMPS SLC18A3 MYSM1 TRPS1 MKRN3 RPGR DSG1 ACP5 JAK3 EXOSC9 MIR140 DNAL1 NCF4 ACTC1 VAMP1 TGFB1 CD3E IDUA FANCF PLCG2 SLC29A3 NDN RAG2 RAG2 SLC46A1 PGM3 GBA IL2RG SULT2B1 DNAJB13 SDR9C7 MSN MYOD1 FCGR3A SHROOM4 PNP ACTA1 ERF MYSM1 LEPR FLNC NCF4 ODAD2 RFXANK KAT6B DNAI1 NEK10 DNAI1 MPLKIP AGA LAMC2 RAG2 LEPR IL17F DCLRE1C LIMK1 PEPD ITGA3 ZBTB24 NCF1 CD3D EP300 IL2RB GLI2 COL6A3 FBLN5 TASP1 DCLRE1C PYROXD1 IL7R TBC1D24 PLCG2 GAA ODAD3 NFKBIA IL17RA KRAS IGLL1 SCNN1A ODAD3 TK2 TPM3 RNF113A IGHM CCDC39 MS4A1 SMN1 SMARCC2 LEP CYBB NEU1 CD3E PTPRC PLG FOXH1 TNNI3 TYK2 ORC6 RNF168 CARD11 CD3G LONP1 GNPTAB IDUA CYBB NBN NRAS DNAAF6 TGIF1 WAC ADA STAT3 SETBP1 CD3D STAT3 RSPH4A HLA-B TSC1 DNMT3B ITCH GAS1 NEK10 CCDC22 SAMD9 CD247 CFI TREX1 ASAH1 INPPL1 MECP2 HYDIN DNAAF2 IL6R LAMB3 NFKB1 RUNX2 KANSL1 PTCH1 TDGF1 RAG1 UBE2A NFKB2 PIK3CD SMN1 TGIF1 HELLS RSPH9 MTHFD1 SMARCD1 OCRL SLC52A3 DZIP1L TDGF1 WDR1 ALB ADA2 DLL1 SHH SIX3 MYL2 STAG2 EFL1 TERC CFAP410 MASP2 GLB1 LIG4 PARN NFKB2 EDARADD DNAAF6 BCR RNF125 TLL1 DCLRE1C SCNN1A ASAH1 SNAP25 NHP2 DNAAF5 DLL1 EXTL3 PRPS1 MAN2B1 ZMYND10 FOXN1 PRKCD BLNK IL2RG IL7R SMPD1 NODAL NECTIN1 LAMTOR2 RAG2 ROR2 ADA IER3IP1 KDM6A TLL1 ALOXE3 TGIF1 PIGN NOS1 NXN DNAH1 MS4A1 NODAL USB1 LRRC56 ATP6V0A2 EPG5 CASP8 PRPS1 IKBKB ARID2 SHH ARID1B EGFR LAMA3 IKZF1 PLOD1 PRKDC JAK3 DNAAF4 BTK PEPD SCNN1B KCNJ6 GAA MCIDAS SOX4 ZMYND10 UNG GATA6 GATA4 SLC26A2 NDN CD81 NKX2-1 PLOD1 PLEC FGF8 GAS1 ABCA12 IGH CLIP2 SCNN1B CYBC1 RAG1 CLEC7A DRC1 TCIRG1 PMM2 PAFAH1B1 TGM1 DLL1 SIX3 TIMM8A ELN FUCA1 SPAG1 ARID1B ABCA3 ARSB CFB SOX11 FOXP3 USP9X P4HTM AP3B1 POLA1 CDON PKHD1 TAF1 COLQ TCF3 TRIP4 STXBP2 CREBBP NPAP1 STK36 DOCK8 DDR2 CD8A CCDC65 INPPL1 TNFRSF13C KNSTRN SELENON LRRC6 SLC5A7 SHH IFIH1 IL7R CIITA ZIC2 FLNA G6PC3 BACH2 ZNHIT3 DNAJC21 SH2D1A CCNO COL13A1 DISP1 IL21 HYDIN MGP IL2RA MED25 GSN FOXH1 SLC35C1 PNP PRTN3 SP110 ARID1A NBN MCIDAS RAG1 TAP1 SNRPN NADK2 ZAP70 MAGT1 FGFR1 GATA2 ALOX12B IFNGR1 NFKB1 DOCK8 AP3D1 STING1 B2M SRP54 TNFRSF13C TTC12 TAP2 KPTN SNRPN DNAI2 CHRM3 CCNO RAC1 ADA TBX20 ODAD2 BCL10 FLNA SLC25A22 RAG2 GATA4 DNAH9 SMARCA4 TNFRSF11A IRAK4 GUSB CD40LG SCNN1G GUSB KIAA0586 NSD2 DPF2 GBA NCF2 GAS2L2 MYH3 TBCD PTPN22 RAC2 PTCH1 DNAI2 TPP2 RAG1 KANSL1 PURA LRRC56 DNAAF1 SCNN1G IL6ST ACP5 XIAP IL2RG IGLL1 AFF4 SCNN1B BTK PCNT CDON COG4 PRKCD LRRC8A PSAP HLA-DQA1 DYNC2I2 SLC35C1 PWAR1 SLC1A4 CR2 TBCE AGRN CTCF FBLN5 TRIP11 NKX2-5 TSC2 GFI1 TNFSF12 GAS8 MAPK1 DNAAF2 SCNN1A ACTA1 NDN IDS PANK2 FGFR1 CHD7 DNAAF3 DNAAF3 DPM2 OCA2 PCGF2 SFTPB MANBA TNNT2 SRP54 CD79B CD19 FOXJ1 LEP NHLRC1 GATA6 SCNN1A SERPINA1 ATM DNAJB13 CLCN7 CACNA1C SPEF2 CREBBP TNFSF12 COL6A2 RAC2 TBL2 CFTR CFAP298 RSPH3 SDCCAG8 DNAH5 WIPF1 NCF2 FOXP1 RFC2 SNORD116-1 POLR2A CCDC103 OFD1 DNAAF5 PDHA1 CD19 SIX3 LTBP3 SMARCD2 CSF2RB PSMB8 CRKL EP300 RSPH1 ATM DCTN4 CLCA4 CTSC STAT3 FCGR2A DNAH5 CDON TRAF3IP2 IDS CD79A PIK3R1 GRHL3 NOP10 HPS6 RPGR SCNN1G CD79B IVNS1ABP ZIC2 AFF4 ITGA7 ERCC2 RAB3GAP2 RTEL1 CYBA SCN9A RASGRP1 FGF8 SNRPN CARD11 POLE ICOS NME8 HLA-DQB1 PGM3 CDCA7 SAMD9L SMC1A ICOS GLI3 SREBF1 CHAT RFX5 TDGF1 CCDC40 SMARCE1 DCLRE1C ALMS1 NCF1 RSPH3 CYBC1 SLC25A1 PTCH1 IL2RG GLI2 GAS1 TNFRSF13B WAS EHMT1 WRAP53 TGIF1 GLUL SH3KBP1 RFXAP CARMIL2 GTF2I TNFRSF1A MAGEL2 HGSNAT MYO9A GTF2H5 TERT RYR1 FAT4 RIPK1 COL13A1 JAGN1 CIITA TBX20 CSPP1 DNAAF4 HK1 NFIX RNU4ATAC BIRC3 IKBKB CD27 NDN TGFB1 PIK3R1 CREBBP ALPL CCDC103 NAGLU ODAD1 CTC1 SNRPN PRPS1 DLL3 LYST GBA NME8 MYPN STX1A TNFRSF13C HERC2 ELANE CORO1A SYT2 CCDC39 CFTR ICOS RFXANK EP300 MAGEL2 WDR19 ALG12 AK2 CD55 GAS8 DKC1 NKX2-1 SCN10A NODAL LRBA ELANE GTF2E2 SGSH BAZ1B PLP1 CACNA1B RSPH4A CCDC65 MID1 NR2F2 ERCC3 WASHC5 NIPAL4 VPS33A CD19 GALNS OSTM1 XIAP ASAH1 DISP1
Protein Mutations 1
H275Y
SNP 0