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Panel-Ref® gDNA All-in-One Reference Standard Plus

CBP90043

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Panel-Ref® gDNA All-in-One Reference Standard Plus
Format Genomic DNA
Description 泛肿瘤大panel标准品“Panel-Ref® gDNA All-in-One Reference Standard Plus”,这是一款针对大panel基因设定的参考品、质控品、标准品,可用于检测流程的QC验证,包含准确性、重复性、检测限等。
验证基因 1000x WES: >5000  
425 gene-panel: >200个
528 gene-panel: >250个
ddPCR: >50个
验证位点 1000x WES: >7000个  
425 gene-panel: >300个
528 gene-panel: >450个
ddPCR: 82
MSI MSI-H:NGS 92.31%PCR 100%MSI
TMB 415.0个突变/Mb
MMR MLH1 p.L323M11号外显子错义突变;
MLH1 p.S252*9号外显子无义突变;
MLH1 p.K618Del16号外显子非移码缺失突变;
MSH6 p.Y1066*5号外显子无义突变;
PMS2 p.D414Tfs*3411号外显子移码突变;
验证平台 425 gene-Panel528 gene-PanelDdPCR and WES 1000X
%AF范围 1-100%
浓度 40 ng/uL±10%
数据下载 可以点击下载
1000x WES
425 gene-panel(Cooperators' Panel)
528 gene-panel(Cobioers' Panel)
DdPCR
 
Gene AA Change CDS Change Chr positionGRCh37 Method
ddPCR 528-GenePanel 425-GenePanel 1000xWES
EGFR G719A c.2156G>C chr7:55241708 5.78% 4.68% 4.85% 6.00%
EGFR C797S c.2390G>C chr7:55249092 4.01% 4.26% 3.80% N/A
EGFR E746_A750del c.2235_2249del15 GGAATTAAGAGAAGC>- chr7:55242465_55242479 1.85% 1.75% 0.63% N/A
EGFR S768I c.2303G>T chr7:55249005 2.68% 2.55% 3.05% N/A
ERBB2 A775_G776insYVMA c.2324_2325ins12ATACGTGATGGC chr17:37880995_37880996 2.55% 2.35% 1.72% N/A
MET c.3082+1G>T c.3082+1G>T chr7:116412044 2.71% 2.57% 1.98% N/A
ROS1 CD74-ROS1 CD74-ROS1   2.08% N/A N/A N/A
PDGFRA D842V c.2525A>T chr4:55152093 1.58% 2.52% 2.85% N/A
KRAS Q61H c.183A>T chr12:25380275 4.57% 4.87% 4.43% 3.96%
KRAS A146T c.436G>A chr12:25378562 2.59% 3.07% 2.69% 3.25%
C-KIT D816V c.2447A>T chr4:55599321 2.20% 3.78% 4.15% 2.99%
NRAS G12D c.35G>A chr1:115258747 6.54% 5.79% 6.33% 7.12%
FLT3 I836DEL c.2508_2510delCAT chr13:28592637_28592639 4.78% N/A 3.71% 3.62%
IDH2 R172K c.515G>A chr15:90631838 4.65% 3.35% 3.74% 4.33%
FGFR3 S249C c.746C>G chr4:1803568 3.09% 2.56% 2.47% N/A
AKT1 E17K c.49G>A chr14:105246551 4.64% 3.21% 5.50% 4.48%
EGFR T790M c.2369C>T chr7:55249071 3.00% 3.79% 2.65% N/A
EGFR L858R c.2573T>G chr7:55259515 5.07% 1.71% 2.83% 4.33%
IDH2 R140Q c.419G>A chr15:90631934 2.65% 3.44% 4.27% N/A
BTK C481S c.1442G>C chrX:100611164 3.16% 2.20% 2.70% 3.50%
KRAS G13D c.38G>A chr12:25398281 8.66% 6.86% 8.33% 6.73%
BRCA2 I2675FS c.8021dup chr13:32937354 11.87% 10.37% 11.16% 8.41%
BRAF V600E c.1799T>A chr7:140453136 43.55% 42.65% 43.96% 40.79%
PIK3CA H1047R c.3140A>G chr3:178952085 31.74% 28.96% 33.14% 33.14%
NRAS Q61K c.181C>A chr1:115256530 12.81% 13.92% 12.52% 14.76%
IDH1 R132C c.394C>T chr2:209113113 14.15% 13.02% 15.61% 11.86%
BRCA1 D435Y c.1303G>T chr17:41246245 28.77% 25.72% 24.03% 31.21%
BRCA2 N1784fs c.5351delA chr13:32913837 29.28% 28.75% 24.34% N/A
CTNNB1 S45del c.133_135delTCT chr3:41266134_41266136 8.51% 6.48% 7.28% 8.11%
FANCA 345Vfs*63 c.1034_1035del chr16:89858927_89858928 24.50% 27.05% 19.18% N/A
GATA2 G200Vfs c.599del chr3:128204842 4.78% N/A 5.05% 5.61%
BCORL1 P1681Qfs c.5042del chrX:129190011 48.11% 47.70% N/A N/A
RUNX1 M267I c.801G>A chr21:36206711 8.59% 7.73% 7.44% 7.59%
APC K1454E c.4360A>G chr5:112175651 26.08% 26.32% 26.37% N/A
IDH2 G190D c.569G>A chr15:90631700 26.98% 26.48% 27.18% 30.77%
EZH2 E169K c.505G>A chr7:148525952 21.57% 23.26% N/A 16.20%
FANCA P615Hfs c.1844del chr16:89842206 7.92% 7.75% 6.73% 7.49%
KMT2A P773Rfs*8 c.2318del chr11:118344186 28.95% 27.03% 26.61% N/A
MSH6 Y1066* c.3198_3199del chr2:48030582 4.86% 4.66% 5.09% 3.80%
NF1 N2341Tfs*5 c.7022del chr17:29667620 26.79% 25.38% 22.94% 19.50%
ARID1A P1115Qfs*46 c.3344del chr1:27097751 27.74% 26.36% 19.94% 28.21%
PPP2R1A R183P c.548G>C chr19:52715983 8.03% 4.77% 8.33% 6.27%
MLH3 K585Rfs c.1754_1755del chr14:75514604 26.80% N/A 25.15% N/A
NF1 Y628Tfs*3 c.1882del chr17:29552144 27.12% 23.94% 26.42% 24.08%
ARID1A D1850Tfs*33 c.5548del chr1:27105931 26.88% 26.79% 24.78% N/A
MLH1 S252* c.755C>A chr3:37056000 17.49% 16.73% 12.92% 14.79%
MSH6 T1085Hfs*8 c.3261dup chr2:48030639 5.62% N/A N/A N/A
TSC2 Y602H c.1804T>C chr16:2120544 27.03% 26.11% 26.80% 24.92%
TSC2 V805I c.2413G>A chr16:2124258 27.49% 25.43% 25.27% 22.11%
TET1 N1611Tfs*13 c.4832del chr10:70441157 27.79% 22.83% N/A N/A
BCOR R1209Tfs*7 c.3624dup chrX:39923086 11.45% 12.06% N/A 10.00%
FGFR2 P583L c.1748C>T chr10:123256164 7.74% 8.42% 8.69% 12.10%
CDH1 H121Tfs*94 c.360del chr16:68835766 9.17% 7.05% 9.27% 11.01%
NF1 P678Rfs*10 c.2033del chr17:29553478 9.24% N/A 8.19% N/A
MSH3 K383Rfs*32 c.1148del chr5:79970915 72.42% N/A N/A N/A
ABL1 Y257C c.770A>G chr9:133738370 7.17% 6.64% N/A 5.72%
IDH1 S261L c.782C>T chr2:209106786 7.29% 9.55% 8.13% 9.46%
ABL1 F747I c.2239T>A chr9:133759916 4.03% 4.54% N/A 3.35%
AR T306I c.917C>T chrX:66765905 36.53% 37.38% 35.04% 37.99%
KMT2A D877Pfs*8 c.2629_2630del chr11:118344494 26.95% 27.11% 23.73% N/A
ATRX T1529del c.4586_4588del chrX:76891517 10.43% 11.71% 10.54% 11.58%
CDKN2A G23fs c.68dup chr9:21974758 12.77% N/A 8.85% 10.99%
CDKN2A E33fs c.97del chr9:21994234 12.53% 14.05% 12.07% 10.09%
GATA3 P127Rfs*68 c.380del chr10:8100403 3.77% N/A 3.06% 5.61%
MLH1 K618del c.1852_1854del chr3:37089123 4.75% N/A 3.48% N/A
ERCC5 c.2533+2T>C c.2533+2T>C chr13:103519197 8.01% 8.62% 7.10% 8.76%
EP300 K292Rfs*25 c.875del chr22:41522009 26.98% 25.85% 22.87% 27.24%
CREBBP c.1824-2A>G c.1824-2A>G chr16:3828820 26.72% 28.95% 30.92% 43.48%
B2M R117* c.349C>T chr15:45008529 27.75% 25.07% 24.19% 26.47%
PMS2 D414Tfs*3 c.1239del chr7:6027157 22.04% 16.40% 19.30% N/A
SMARCA4 Y120Sfs*9 c.363dup chr19:11096868 8.66% 8.53% 8.81% 12.72%
EP300 M1470Cfs*26 c.4408del chr22:41566525 36.20% 35.37% 32.22% N/A
EP300 N1700Tfs*9 c.5099del chr22:41572810 8.43% 8.18% 9.43% 7.41%
KMT2D G3465* c.10393G>T chr12:49428412 27.42% 23.06% N/A 23.05%
KMT2D P2550Lfs*33 c.7649del chr12:49428412 26.82% 26.44% N/A 26.92%
MEF2B V316Sfs*6 c.944dup chr19:19256768 26.33% N/A 17.49% N/A
KMT2D G1960Afs*87 c.5879del chr12:49436102 4.80% 5.19% N/A 7.69%
ASXL1 G645Vfs*58 c.1926del chr20:32434639 21.95% N/A N/A N/A
ASXL1 G646Wfs*12 c.1934dup chr20:31022441 8.84% 22.80% 8.60% N/A
c-MYC AMP AMP ----------------------- 3.33 N/A N/A N/A
RAC1 N92I c.275A>T chr7:6439806 13.67% 14.26% 18.09% 14.81%
ACVR2A K437Rfs*5 c.1310delA chr2:148683686 62.45% N/A N/A N/A
 
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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