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    首頁(yè) /診斷試劑 /熱門(mén)腫瘤標志物 /HRR /Panel-Ref? HRR-Related-28 Gene Cocktail Reference Standard

    Panel-Ref? HRR-Related-28 Gene Cocktail Reference Standard

    CBP90044

    產(chǎn)品描述
    產(chǎn)品數據庫
    Introduction
    專(zhuān)利 該產(chǎn)品開(kāi)發(fā)基于我們<<一種用于DNA同源重組修復基因檢測的標準品及其制備方法>>專(zhuān)利轉化
    Test Method 1000x WES+部分位點(diǎn)DdPCR
    Description HRR途徑相關(guān)的28種基因
               
    Gene Protein Change CDS Change AF-NGS AF-ddPCR Clinical significance
    ATM p.Q628fs c.1880dupT 22.40% 21.70% Pathogenic
    ATM p.N1983S c.5948A>G 99.93% N/A Benign
    ATM p.A2843V c.8528C>T 19.51% N/A Likely Pathogenic
    ATR p.R2425Q c.7274G>A 20.82% N/A Benign
    ATR N/A c.6552+5A>G 5.54% N/A Uncertain Significance
    ATR N/A c.4153-11_4153-10delTT 17.00% 18.90% Uncertain Significance
    ATR p.I774Yfs*5 c.2320delA 24.88% N/A Uncertain Significance
    ATR p.L711F c.2131C>T 3.55% N/A Likely Benign
    ATR p.D564= c.1692T>C 19.36% N/A Likely Benign
    BARD1 p.A724T c.2170G>A 11.25% N/A Uncertain Significance
    BARD1 p.V507M c.1519G>A 65.39% N/A Benign
    BARD1 p.H506= c.1518T>C 87.49% N/A Benign
    BARD1 p.R378S c.1134G>C 67.73% N/A Benign
    BARD1 p.P24S c.70C>T 65.48% N/A Benign
    BLM p.A603V c.1808C>T 19.77% N/A Uncertain Significance
    BLM p.Q615= c.1845A>G 21.37% N/A Likely Benign
    BLM p.H660Qfs*2 c.1979dupA 22.32% 21.70% Pathogenic
    BLM p.G921= c.2763C>T 17.63% N/A Likely Benign
    BLM p.T1034= c.3102G>A 41.77% N/A Benign
    BLM p.A1177= c.3531C>A 39.14% N/A Benign
    BLM p.L1315= c.3945C>T 42.43% N/A Benign
    BRCA1 p.S663N c.1988G>A 20.06% N/A Uncertain Significance
    BRCA1 p.S1634G c.4900A>G 63.98% 59.90% Benign
    BRCA1 p.S1436= c.4308T>C 60.76% N/A Benign
    BRCA1 p.K1183R c.3548A>G 61.42% 62.70% Benign
    BRCA1 p.E1038G c.3113A>G 66.25% N/A Benign
    BRCA1 p.P871L c.2612C>T 70.89% 70.70% Benign
    BRCA1 p.L771= c.2311T>C 66.45% N/A Benign
    BRCA1 p.S694= c.2082C>T 64.64% 61.90% Benign
    BRCA2 p.A487V c.1460C>T 19.13% 21.20% Uncertain Significance
    BRCA2 p.N289H c.865A>C 39.45% 42.30% Benign
    BRCA2 p.S455= c.1365A>G 44.47% 42.10% Benign
    BRCA2 N/A c.1909+2T>C 19.93% 21.00% Pathogenic
    BRCA2 p.H743= c.2229T>C 44.94% N/A Benign
    BRCA2 p.N991D c.2971A>G 42.44% 42.70% Benign
    BRCA2 p.N1287Ifs*6 c.3860delA 20.29% 21.00% Pathogenic
    BRCA2 p.D1476G c.4427A>G 20.94% 20.20% Likely Pathogenic
    BRCA2 p.L1521= c.4563A>G 100.00% N/A Benign
    BRCA2 p.R2784Q c.8351G>A 19.35% 19.60% Pathogenic
    BRCA2 p.V2014E c.6041T>A 20.34% N/A Likely Pathogenic
    BRCA2 p.V2171= c.6513G>C 100.00% N/A Benign
    BRCA2 p.V2466A c.7397T>C 99.93% 100.00% Benign
    BRCA2 p.Q2934* c.8800C>T 20.85% 21.40% Pathogenic
    BRIP1 p.N933I c.2798A>T 17.19% N/A Uncertain Significance
    BRIP1 p.E879= c.2637A>G 100.00% N/A Benign
    CDK12 p.R300K c.899G>A 20.66% N/A Uncertain Significance
    CDK12 p.I873N c.2618T>A 21.51% N/A Uncertain Significance
    CHEK1 p.Y390= c.1170T>C 19.17% N/A Likely Benign
    CHEK1 p.I471V c.1411A>G 100.00% N/A Benign
    CHEK2 N/A c.721+2T>C 20.41% 21.80% Pathogenic
    CHEK2 p.R188W c.562C>T 20.76% 20.80% Pathogenic
    FANCA p.P1218= c.3654A>G 24.45% N/A Benign
    FANCA N/A c.3067-4T>C 23.56% N/A Benign
    FANCA p.S967= c.2901C>T 22.71% N/A Benign
    FANCA N/A c.2779-7T>C 21.82% N/A Benign
    FANCA p.P643A c.1927C>G 15.81% N/A Benign
    FANCA p.G501S c.1501G>A 67.88% N/A Benign
    FANCA p.T381= c.1143G>T 22.18% N/A Benign
    FANCA N/A c.894-8A>G 24.39% N/A Benign
    FANCA p.S208L c.623C>T 24.07% N/A Uncertain Significance
    FANCC p.G307V c.920G>T 20.92% N/A Uncertain Significance
    FANCC p.A158V c.473C>T 18.75% N/A Likely Benign
    FANCC p.S156= c.468A>G 18.39% N/A Likely Benign
    FANCF p.L111= c.331C>T 3.45% N/A Likely Benign
    FANCI p.K849= c.2547G>A 100.00% N/A Benign
    FANCL p.A299T c.895G>A 19.97% N/A Likely Benign
    FANCL N/A c.791-10delT 22.98% N/A Uncertain Significance
    FANCM p.L42= c.126G>A 2.39% N/A Likely Benign
    FANCM N/A c.1788+6T>C 22.34% N/A Uncertain Significance
    FANCM p.V878L c.2632G>T 44.96% N/A Benign
    FANCM p.Q1333Tfs*11 c.3996_3997insA 16.52% N/A Likely Pathogenic
    FANCM p.S1949T c.5845T>A 22.68% 21.00% Uncertain Significance
    FANCM p.M2010V c.6028A>G 21.53% 21.20% Uncertain Significance
    MRE11A N/A c.1867+6T>C 19.94% N/A Uncertain Significance
    MRE11A N/A c.315-5_315-4delTT 38.89% N/A Uncertain Significance
    NBN N/A c.1398-10delT 20.05% N/A Uncertain Significance
    NBN p.L34= c.102G>A 41.94% N/A Benign
    NBN N/A c.38-10_38-9insA 14.76% N/A Uncertain Significance
    PALB2 p.G808* c.2422G>T 17.58% 20.80% Pathogenic
    PPP2R2A p.C249Y c.746G>A 18.13% N/A Uncertain Significance
    RAD50 p.K722Rfs*14 c.2165delA 19.49% N/A Pathogenic
    RAD51B p.R348G c.1042A>G 23.42% N/A Likely Benign
    RAD51C p.T287A c.859A>G 19.52% N/A Benign
    RAD51D p.V66= c.198G>T 20.14% N/A Likely Benign
    RAD52 p.R253C c.757C>T 22.43% N/A Uncertain Significance
    RAD52 N/A c.348+7_348+8insA 29.60% N/A Uncertain Significance
    RAD54L p.R587W c.1759C>T 21.40% N/A Likely Benign
    RPA1 p.A128V c.383C>T 18.76% N/A Uncertain Significance
    RPA1 p.S352= c.1056C>T 43.54% N/A Benign
    RPA1 p.E363Kfs*60 c.1087delG 21.20% N/A Pathogenic
    RPA1 p.S535= c.1605T>C 40.91% N/A Benign
               
    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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