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科研细胞
药靶细胞
标准品
NGS靶向捕获探针
Panel-Ref® Hematologic Malignancies Cocktail Reference Standard
| Panel-Ref® Hematologic Malignancies Cocktail Reference Standard | ||||||||
| Cat No. | CBP90039 | |||||||
| 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 | 4°C | |||||||
| Expiry | 36 months from the date of manufacture | |||||||
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