加入收藏 | 设为首页 | 联系我们

产品搜索

相关文章

联系我们

联系人:蒋经理
电话:86-25-86880024
号码:86-25-86880024
手机:18066071954
地址:南京市雨花区长虹路222号
Email: duhaitao@cobioer.com

产品展示 / PRODUCTS
基因检测标准品 > Panel > CBP90021Panel-Ref® HRR-Related-28 Gene Cocktail Refer

Panel-Ref® HRR-Related-28 Gene Cocktail Refer
名称 Panel-Ref® HRR-Related-28 Gene Cocktail Refer
型号 CBP90021
报价
特点 Panel-Ref® GIST Cancer Reference Standard
  • 详细内容
Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard
Cat No.CBP90021
Test Method1000x WES+部分位点DdPCR
DescriptionHRR途径相关的28种基因









GeneVariant ClassificationProtein ChangeCDS Change%AFClinical significance%DdPCRCosmic IDChr position (GRCh37)
ATMframeshift_variantp.N625Ifs*10c.1873_1874insT21.57Pathogenic18N/Achr11:108123614_108123615
ATMmissense_variantp.N1983Sc.5948A>G99.85BenignN/AN/Achr11:108183167
ATMframeshift_variantp.K236Nfs*10c.708delA1.61Uncertain SignificanceN/AN/AN/A
ATMmissense_variantp.A2843Vc.8528C>T21.45Likely PathogenicN/AN/Achr11:108216579
ATRmissense_variantp.R2425Qc.7274G>A24.38BenignN/ACOSM149485chr3:142178144
ATRsplice_region_variantN/Ac.6552+5A>G5.7Uncertain SignificanceN/AN/Achr3:142188174
ATRintron_variantN/Ac.4153-11_4153-10delTT20.97Uncertain SignificanceN/ACOSM1617014chr3:142241703..142241704
ATRframeshift_variantp.I774Yfs*5c.2320delA19.835Uncertain SignificanceN/ACOSM214499chr3:142274749
ATRmissense_variantp.L711Fc.2131C>T3.39Likely BenignN/AN/Achr3:142274929
ATRsynonymous_variantp.D564=c.1692T>C24.62Likely BenignN/AN/Achr3:142278133
BARD1missense_variantp.A724Tc.2170G>A8.135Uncertain SignificanceN/ACOSM1669728chr2:215593564
BARD1missense_variantp.V507Mc.1519G>A56.205BenignN/ACOSM3757929chr2:215632255
BARD1synonymous_variantp.H506=c.1518T>C70.16BenignN/ACOSM7131995chr2:215632256
BARD1missense_variantp.R378Sc.1134G>C57.365BenignN/ACOSM3757931chr2:215645464
BARD1missense_variantp.P24Sc.70C>T56.915BenignN/ACOSM442275chr2:215674224
BLMmissense_variantp.A603Vc.1808C>T20.905Uncertain SignificanceN/AN/Achr15:91304411
BLMsynonymous_variantp.Q615=c.1845A>G21.985Likely BenignN/AN/Achr15:91304448
BLMframeshift_variantp.H660Qfs*2c.1979dupA21.585Pathogenic19.9N/Achr15:91306292
BLMsynonymous_variantp.G921=c.2763C>T22.105Likely BenignN/AN/Achr15:91328251
BLMsynonymous_variantp.T1034=c.3102G>A31.655BenignN/AN/Achr15:91337479
BLMsynonymous_variantp.A1177=c.3531C>A36.99BenignN/AN/Achr15:91346923
BLMsynonymous_variantp.L1315=c.3945C>T34.21BenignN/AN/Achr15:91354505
BRCA1missense_variantp.S663Nc.1988G>A12.96Uncertain Significance19COSM3190090chr17:41245560
BRCA1missense_variantp.S1634Gc.4900A>G46.035Benign58.18COSM3755559chr17:41223094
BRCA1synonymous_variantp.S1436=c.4308T>C48.82BenignN/ACOSM4416374chr17:41234470
BRCA1missense_variantp.K1183Rc.3548A>G47.325Benign54.21COSM148277chr17:41244000
BRCA1missense_variantp.E1038Gc.3113A>G46.345BenignN/ACOSM3755562chr17:41244435
BRCA1missense_variantp.P871Lc.2612C>T63.68Benign57.03COSM148278chr17:41244936
BRCA1synonymous_variantp.L771=c.2311T>C48.71BenignN/ACOSM3755565chr17:41245237
BRCA1synonymous_variantp.S694=c.2082C>T47.16BenignN/AN/Achr17:41245466
BRCA2missense_variantp.A487Vc.1460C>T15.96Uncertain Significance20.7COSM1677593chr13:32907075
BRCA2missense_variantp.N289Hc.865A>C29.71Benign37.64COSM3999066chr13:32906480
BRCA2synonymous_variantp.S455=c.1365A>G35.89BenignN/ACOSM3999068chr13:32906980
BRCA2splice_donor_variantN/Ac.1909+2T>C18.955Pathogenic20.41N/Achr13:32907526
BRCA2synonymous_variantp.H743=c.2229T>C34.535BenignN/ACOSM5019762chr13:32910721
BRCA2missense_variantp.N991Dc.2971A>G34.72Benign38.09COSM4986759chr13:32911463
BRCA2frameshift_variantp.N1287Ifs*6c.3860delA19.925Pathogenic18.4COSM29753chr13:32912352
BRCA2missense_variantp.D1476Gc.4427A>G20.89Likely Pathogenic17.3COSM2071387chr13:32912919
BRCA2synonymous_variantp.L1521=c.4563A>G99.94BenignN/ACOSM9180822chr13:32913055
BRCA2missense_variantp.R2784Qc.8351G>A12.78Pathogenic18.7N/Achr13:32944558
BRCA2missense_variantp.V2014Ec.6041T>A23.005Likely PathogenicN/AN/Achr13:32914533
BRCA2synonymous_variantp.V2171=c.6513G>C99.93BenignN/ACOSM4147689chr13:32915005
BRCA2missense_variantp.V2466Ac.7397T>C99.895Benign99.69COSM7335572chr13:32929387
BRCA2stop_gainedp.Q2934*c.8800C>T23.2Pathogenic20.2N/Achr13:32953499
BRIP1missense_variantp.N933Ic.2798A>T18.63Uncertain SignificanceN/ACOSM2793759chr17:59763304
BRIP1synonymous_variantp.E879=c.2637A>G99.595BenignN/AN/Achr17:59763465
CDK12missense_variantp.R300Kc.899G>A21.325Uncertain SignificanceN/AN/Achr17:37619223
CDK12missense_variantp.I873Nc.2618T>A17.705Uncertain SignificanceN/AN/Achr17:37665966
CHEK1synonymous_variantp.Y390=c.1170T>C22.57Likely BenignN/AN/Achr11:125514475
CHEK1missense_variantp.I471Vc.1411A>G100BenignN/AN/Achr11:125525195
CHEK2splice_donor_variantN/Ac.721+2T>C22.06Pathogenic19.2COSM2935990chr22:29120963
CHEK2missense_variantp.R188Wc.562C>T13.165Pathogenic18.6COSM2935997chr22:29121242
FANCAsynonymous_variantp.P1218=c.3654A>G24.475BenignN/ACOSM4416265chr16:89809319
FANCAsplice_region_variantN/Ac.3067-4T>C23.625BenignN/ACOSM5021114chr16:89816314
FANCAsynonymous_variantp.S967=c.2901C>T21.5BenignN/ACOSM3999984chr16:89825065
FANCAsplice_region_variantN/Ac.2779-7T>C22.005BenignN/ACOSM3999985chr16:89828437
FANCAmissense_variantp.P643Ac.1927C>G18.555BenignN/ACOSM5021046chr16:89839766
FANCAmissense_variantp.G501Sc.1501G>A66.755BenignN/ACOSM4984954chr16:89849480
FANCAsynonymous_variantp.T381=c.1143G>T24.555BenignN/ACOSM3999986chr16:89858417
FANCAsplice_region_variantN/Ac.894-8A>G24.575BenignN/ACOSM4416092chr16:89862434
FANCAmissense_variantp.S208Lc.623C>T24.47Uncertain SignificanceN/ACOSM5754957chr16:89871774
FANCCmissense_variantp.G307Vc.920G>T19.015Uncertain SignificanceN/AN/Achr9:97887444
FANCCmissense_variantp.A158Vc.473C>T16.975Likely BenignN/ACOSM2733054chr9:97933409
FANCCsynonymous_variantp.S156=c.468A>G16.285Likely BenignN/AN/Achr9:97933414
FANCD2synonymous_variantp.Y425=c.1275C>T14.935Likely BenignN/ACOSM1417229chr3:10088404
FANCD2splice_donor_variantN/Ac.1278+3_1278+6delAAGT13.87Uncertain SignificanceN/ACOSM2915288chr3:10088410_10088413
FANCFsynonymous_variantp.L111=c.331C>T2.375Likely BenignN/AN/Achr11:22647026
FANCIsynonymous_variantp.K849=c.2547G>A99.9BenignN/AN/Achr15:89838236
FANCLmissense_variantp.A299Tc.895G>A21.065Likely BenignN/AN/Achr2:58390024
FANCLintron_variantN/Ac.791-10delT25.73Uncertain SignificanceN/AN/Achr2:58390219
FANCMsynonymous_variantp.L42=c.126G>A2.01Likely BenignN/AN/Achr14:45605360
FANCMsplice_region_variantN/Ac.1788+6T>C22.375Uncertain SignificanceN/AN/Achr14:45633774
FANCMmissense_variantp.V878Lc.2632G>T39.685BenignN/ACOSM3753964chr14:45644589
FANCMframeshift_variantp.Q1333Tfs*11c.3996_3997insA18.86Likely PathogenicN/AN/Achr14:45645953_45645954
FANCMmissense_variantp.S1949Tc.5845T>A19.725Uncertain SignificanceN/AN/Achr14:45667975
FANCMmissense_variantp.M2010Vc.6028A>G20.895Uncertain Significance18.9N/Achr14:45669092
MRE11Asplice_region_variantN/Ac.1867+6T>C17.2Uncertain SignificanceN/AN/Achr11:94178970
MRE11Asplice_region_variantN/Ac.315-5_315-4delTT27.945Uncertain SignificanceN/ACOSM3728955chr11:94212940_94212941
NBNintron_variantN/Ac.1398-10delT19.56Uncertain SignificanceN/ACOSM1258762chr8:90965937
NBNsynonymous_variantp.L34=c.102G>A34.07BenignN/ACOSM3763444chr8:90995019
NBNintron_variantN/Ac.38-10_38-9insA17.625Uncertain SignificanceN/AN/Achr8:90995093_90995092
PALB2stop_gainedp.G808*c.2422G>T15.005Pathogenic21.05COSM1678936chr16:23641053
PPP2R2Amissense_variantp.C249Yc.746G>A16.335Uncertain SignificanceN/AN/Achr8:26220278
RAD50frameshift_variantp.K722Rfs*14c.2165delA20.43PathogenicN/ACOSM1433045chr5:131931460
RAD51Bmissense_variantp.R348Gc.1042A>G25.77Likely BenignN/AN/AN/A
RAD51Cmissense_variantp.T287Ac.859A>G10.79BenignN/ACOSM9494459chr17:56798128
RAD51Dsynonymous_variantp.V66=c.198G>T21.21Likely BenignN/AN/AN/A
RAD52missense_variantp.R253Cc.757C>T22.585Uncertain SignificanceN/AN/Achr12:1025670
RAD52splice_region_variantN/Ac.348+7_348+8insA34.44Uncertain SignificanceN/AN/Achr12:1038978_1038977
RAD54Lmissense_variantp.R587Wc.1759C>T12.65Likely BenignN/AN/Achr1:46740279
RPA1missense_variantp.A128Vc.383C>T22.53Uncertain SignificanceN/AN/Achr17:1775749
RPA1synonymous_variantp.S352=c.1056C>T43.09BenignN/ACOSM6354194chr17:1782957
RPA1frameshift_variantp.E363Kfs*60c.1087delG19.995PathogenicN/AN/Achr17:1782988
RPA1synonymous_variantp.S535=c.1605T>C39.92BenignN/ACOSM4000039chr17:1795180
To get the complete informations of 1000x WES, please contact us.









Product Information 
Intended UseResearch Use Only
Unit Size1ug/vial * 1 vial
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Storage4°C
Expiry36 months from the date of manufacture




如果你对CBP90021Panel-Ref® HRR-Related-28 Gene Cocktail Refer感兴趣,想了解更详细的产品信息,填写下表直接与厂家联系:


留言框

  • 产品:

  • 您的单位:

  • 您的姓名:

  • 联系电话:

  • 常用邮箱:

  • 省份:

  • 详细地址:

  • 补充说明:

  • 验证码:

    请输入计算结果(填写阿拉伯数字),如:三加四=7
QQ在线客服
电话咨询
  • 25-86880024
  • 手机:18066071954

化工仪器网

推荐收藏该企业网站