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基因检测标准品 > Panel > CBP90039Panel-Ref® Hematologic Malignancies Cocktail

Panel-Ref® Hematologic Malignancies Cocktail
名称 Panel-Ref® Hematologic Malignancies Cocktail
型号 CBP90039
报价
特点 Malignancies
  • 详细内容
Panel-Ref® Hematologic Malignancies Cocktail Reference Standard
Cat No.CBP90039
DescriptionN/A
GENEMut.CDS changeTranscriptMutation typeChr Position (GRCh37)COSMIC IDVariant ClassificationAF%
ABL1p.T315Ic.944C>TNM_005157.6Missensechr9:133748283COSM12560Pathogenic4.94
ABL1BCR(E13)-ABL1(E2)N/AN/ATranslocationchr22:23632361:+
chr9:133681715:+
N/APathogenic4.56
MYD88p.L265Pc.794T>CENST00000396334.3Missensechr3:38182641N/APathogenic4.81
BTKp.C481Sc.1442G>CNM_000061.3MissensechrX:100611164COSM6053938Pathogenic5.25
FLT3FLT3-ITD(E598_Y599 insFD FREYE)

c.1795-1796 ins21(TTGATTTCAG

AGAATATGAAT)

NM_004119.2Insertion - In frameN/AN/APathogenic5.5
FLT3p.D835Vc.2504A>TNM_004119.3Missensechr13:28592641COSM784Pathogenic5.92
IDH2p.R172Kc.515G>ANM_002168.4Missensechr15:90631838COSM33733Pathogenic5.08
JAK2p.V617Fc.1849G>TNM_004972.4Missensechr9:5073770COSM12600Pathogenic4.68
KITp.D816Vc.2447A>TNM_000222.3Missensechr4:55599321COSM1314Pathogenic4.92
KRASp.G12Dc.35G>ANM_004985.5Missensechr12:25398284COSM521Pathogenic5.64
PDGFRAFIP1L1(E12)-PDGFRA(E12)N/AN/ADEL-likeChr4:54292891:+
Chr4:55141088:+
N/APathogenic5.63
PDGFRAp.D842Vc.2525A>TNM_006206.6Missensechr4:55152093COSM736Pathogenic5.24
PIK3CAp.H1047Rc.3140A>GNM_006218.4Missensechr3:178952085COSM775Pathogenic5.96
C-MYCAmplificationN/AN/ACNVN/AN/APathogenic4.84 copies
CBLp.Q409fs

c.1227_1227+13

del(AGGTACGGATCTAA)

NM_005188.4splice junction losschr11:119149006N/AUncertain Significance2.79
IDH1p.R132Cc.394C>TNM_005896.4Missensechr2:209113113COSM28747Pathogenic14.94
NRASp.Q61Kc.181C>ANM_002524.5Missensechr1:115256530COSM580Pathogenic16.7
BCORL1p.P1681Qfs*20c.5042delCNM_021946.5frameshiftchrX:129190011N/AUncertain Significance10.75
TP53p.M133Kc.398T>ANM_000546.6Missensechr17:7578532COSM11781Likely Pathogenic0.76
BRAFp.V600Ec.1799T>ANM_004333.6Missensechr7:140453136COSM476Pathogenic13.17
ARID1Ap.D1850Tfs*33c.5548delGNM_006015.6frameshiftchr1:27105931COSM133001Uncertain Significance7.65
ARID1Ap.P1115Qfs*46c.3344delCNM_006015.6frameshiftchr1:27097751COSM133000Uncertain Significance7.31
EP300p.K292Rfs*25c.875delANM_001429.4frameshiftchr22:41522009COSM3153084Uncertain Significance6.95
EP300p.M1470Cfs*26c.4408delANM_001429.4frameshiftchr22:41566525COSM88790Uncertain Significance7.34
CREBBPN/Ac.1824-2A>GNM_004380.3non codingchr16:3828820N/ALikely Pathogenic7.75
B2Mp.R117*c.349C>TNM_004048.4nonsensechr15:45008529COSM279094Uncertain Significance7.24
NF1p.Y628Tfs*3c.1882delTNM_001042492.3frameshiftchr17:29552144COSM34040Pathogenic7.63
NF1p.N2341Tfs*5c.7022delANM_001042492.3frameshiftchr17:29667620COSM29755Likely Pathogenic7.47
TP53p.S215Gc.643A>GNM_000546.6Missensechr17:7578206COSM43951Pathogenic11.8
MEF2Bp.V316Sfs*6c.944dupGNM_001145785.2frameshiftchr19:19256775COSM5367959Uncertain Significance7.54
CD79ap.L191_G208del

c.568-2_610del(TCCCAGGGCC          TGAACCTGGACGACTGCT

CCATGTATGAGGACATC)

NM_001783.4splice junction losschr19:42384928N/APathogenic3.02
KMT2Dp.G3465*c.10393G>TNM_003482.4nonsensechr12:49428412COSM2006927Uncertain Significance7.24
KMT2Dp.P2550Lfs*33c.7649delGNM_003482.4frameshiftchr12:49433908COSM4614703Uncertain Significance7.24
KMT2AKMT2A-MLLT3(E10-E6,E9-E6)N/AN/ATranslocationChr11:118358441
Chr9:20412831
N/APathogenic2.69
KMT2Ap.D877Pfs*8c.2629_2630delAGNM_005933.4frameshiftchr11:118344503.. 118344504COSM2105383Pathogenic6.8
KMT2Ap.P773Rfs*8c.2318delCNM_005933.4frameshiftchr11:118344192COSM1351608Pathogenic6.86
ASXL1p.G645Vfs*58c.1926delNM_015338.6frameshiftchr20:31022441COSM3737035Uncertain Significance6.98
KMT2A

KMT2A-

PTD (E2-E8Dup)

c.22807bp-DuplicationNM_005933.4Dup-Likechr11:118331125-118353931DupN/APathogenic2.6
Product Information
Intended UseResearch Use Only
Unit Size1ug/vial * 1 vial
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Storage4°C
Expiry36 months from the date of manufacture


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