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Panel-Ref? Hematologic Malignancies Cocktail Reference Standard

CBP90039

產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
Introduction
Description N/A
                 
GENE Mut. CDS change Transcript Mutation type Chr Position (GRCh37) COSMIC ID Variant Classification AF%
ABL1 p.T315I c.944C>T NM_005157.6 Missense chr9:133748283 COSM12560 Pathogenic 4.94
ABL1 BCR(E13)-ABL1(E2) N/A N/A Translocation chr22:23632361:+
chr9:133681715:+		 N/A Pathogenic 4.56
MYD88 p.L265P c.794T>C ENST00000396334.3 Missense chr3:38182641 N/A Pathogenic 4.81
BTK p.C481S c.1442G>C NM_000061.3 Missense chrX:100611164 COSM6053938 Pathogenic 5.25
FLT3 FLT3-ITD(E598_Y599 insFD FREYE) c.1795-1796 ins21(TTGATTTCAGAGAATATGAAT) NM_004119.2 Insertion - In frame N/A N/A Pathogenic 5.5
FLT3 p.D835V c.2504A>T NM_004119.3 Missense chr13:28592641 COSM784 Pathogenic 5.92
IDH2 p.R172K c.515G>A NM_002168.4 Missense chr15:90631838 COSM33733 Pathogenic 5.08
JAK2 p.V617F c.1849G>T NM_004972.4 Missense chr9:5073770 COSM12600 Pathogenic 4.68
KIT p.D816V c.2447A>T NM_000222.3 Missense chr4:55599321 COSM1314 Pathogenic 4.92
KRAS p.G12D c.35G>A NM_004985.5 Missense chr12:25398284 COSM521 Pathogenic 5.64
PDGFRA FIP1L1(E12)-PDGFRA(E12) N/A N/A DEL-like Chr4:54292891:+
Chr4:55141088:+		 N/A Pathogenic 5.63
PDGFRA p.D842V c.2525A>T NM_006206.6 Missense chr4:55152093 COSM736 Pathogenic 5.24
PIK3CA p.H1047R c.3140A>G NM_006218.4 Missense chr3:178952085 COSM775 Pathogenic 5.96
C-MYC Amplification N/A N/A CNV N/A N/A Pathogenic 4.84 copies
CBL p.Q409fs

c.1227_1227+13

del(AGGTACGGATCTAA)

 NM_005188.4 splice junction loss chr11:119149006 N/A Uncertain Significance 2.79
IDH1 p.R132C c.394C>T NM_005896.4 Missense chr2:209113113 COSM28747 Pathogenic 14.94
NRAS p.Q61K c.181C>A NM_002524.5 Missense chr1:115256530 COSM580 Pathogenic 16.7
BCORL1 p.P1681Qfs*20 c.5042delC NM_021946.5 frameshift chrX:129190011 N/A Uncertain Significance 10.75
TP53 p.M133K c.398T>A NM_000546.6 Missense chr17:7578532 COSM11781 Likely Pathogenic 0.76
BRAF p.V600E c.1799T>A NM_004333.6 Missense chr7:140453136 COSM476 Pathogenic 13.17
ARID1A p.D1850Tfs*33 c.5548delG NM_006015.6 frameshift chr1:27105931 COSM133001 Uncertain Significance 7.65
ARID1A p.P1115Qfs*46 c.3344delC NM_006015.6 frameshift chr1:27097751 COSM133000 Uncertain Significance 7.31
EP300 p.K292Rfs*25 c.875delA NM_001429.4 frameshift chr22:41522009 COSM3153084 Uncertain Significance 6.95
EP300 p.M1470Cfs*26 c.4408delA NM_001429.4 frameshift chr22:41566525 COSM88790 Uncertain Significance 7.34
CREBBP N/A c.1824-2A>G NM_004380.3 non coding chr16:3828820 N/A Likely Pathogenic 7.75
B2M p.R117* c.349C>T NM_004048.4 nonsense chr15:45008529 COSM279094 Uncertain Significance 7.24
NF1 p.Y628Tfs*3 c.1882delT NM_001042492.3 frameshift chr17:29552144 COSM34040 Pathogenic 7.63
NF1 p.N2341Tfs*5 c.7022delA NM_001042492.3 frameshift chr17:29667620 COSM29755 Likely Pathogenic 7.47
TP53 p.S215G c.643A>G NM_000546.6 Missense chr17:7578206 COSM43951 Pathogenic 11.8
MEF2B p.V316Sfs*6 c.944dupG NM_001145785.2 frameshift chr19:19256775 COSM5367959 Uncertain Significance 7.54
CD79a p.L191_G208del c.568-2_610del(TCCCAGGGCCTGAACCTGGACGACTGCTCCATGTATGAGGACATC) NM_001783.4 splice junction loss chr19:42384928 N/A Pathogenic 3.02
KMT2D p.G3465* c.10393G>T NM_003482.4 nonsense chr12:49428412 COSM2006927 Uncertain Significance 7.24
KMT2D p.P2550Lfs*33 c.7649delG NM_003482.4 frameshift chr12:49433908 COSM4614703 Uncertain Significance 7.24
KMT2A KMT2A-MLLT3(E10-E6,E9-E6) N/A N/A Translocation Chr11:118358441
Chr9:20412831		 N/A Pathogenic 2.69
KMT2A p.D877Pfs*8 c.2629_2630delAG NM_005933.4 frameshift chr11:118344503.. 118344504 COSM2105383 Pathogenic 6.8
KMT2A p.P773Rfs*8 c.2318delC NM_005933.4 frameshift chr11:118344192 COSM1351608 Pathogenic 6.86
ASXL1 p.G645Vfs*58 c.1926del NM_015338.6 frameshift chr20:31022441 COSM3737035 Uncertain Significance 6.98
KMT2A

KMT2A-

PTD (E2-E8Dup)

 c.22807bp-Duplication NM_005933.4 Dup-Like chr11:118331125-118353931Dup N/A Pathogenic 2.6
                 
Product Information　
Intended Use Research Use Only
Unit Size 1ug/vial * 1 vial
Concentration Download for COA
Purity Download for COA
DNA electrophoresis Download for COA
Storage 2-8°C
Expiry 36 months from the date of manufacture

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藥靶模型聯(lián)系方式: 華東銷(xiāo)售經(jīng)理：18240630236 全國(guó)銷(xiāo)售經(jīng)理：18066071954
診斷標(biāo)準(zhǔn)品聯(lián)系方式： 華東銷(xiāo)售經(jīng)理：15000320447 華北銷(xiāo)售經(jīng)理：18131625521 華南銷(xiāo)售經(jīng)理：13484295986 華中&西南銷(xiāo)售經(jīng)理：13871580511 全國(guó)銷(xiāo)售經(jīng)理：13484295986

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