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Panel-Ref® gDNA All-in-One Reference Standard Plus | |||||||
Format | Genomic DNA | ||||||
Description | 泛腫瘤大panel標準品“Panel-Ref® gDNA All-in-One Reference Standard Plus”,這是一款針對大panel基因設定的參考品、質控品、標準品,可用于檢測流程的QC驗證,包含準確性、重復性、檢測限等。 | ||||||
驗證基因 | 1000x WES: >5000個 | ||||||
425 gene-panel: >200個 | |||||||
528 gene-panel: >250個 | |||||||
ddPCR: >50個 | |||||||
驗證位點 | 1000x WES: >7000個 | ||||||
425 gene-panel: >300個 | |||||||
528 gene-panel: >450個 | |||||||
ddPCR: 82個 | |||||||
MSI | MSI-H:NGS 92.31%,PCR 100%MSI; | ||||||
TMB | 415.0個突變/Mb | ||||||
MMR | MLH1 p.L323M第11號外顯子錯義突變; | ||||||
MLH1 p.S252*第9號外顯子無義突變; | |||||||
MLH1 p.K618Del第16號外顯子非移碼缺失突變; | |||||||
MSH6 p.Y1066*第5號外顯子無義突變; | |||||||
PMS2 p.D414Tfs*34第11號外顯子移碼突變; | |||||||
等 | |||||||
驗證平臺 | 425 gene-Panel、528 gene-Panel、DdPCR and WES 1000X | ||||||
%AF范圍 | 1-100% | ||||||
濃度 | 40 ng/uL±10% | ||||||
數據下載 | 可以點擊下載 | ||||||
1000x WES | |||||||
425 gene-panel(Cooperators' Panel) | |||||||
528 gene-panel(Cobioers' Panel) | |||||||
DdPCR | |||||||
Gene | AA Change | CDS Change | Chr position(GRCh37) | 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 |