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

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

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产品编号
CBP90021
货号:
CBP90021
品牌:
Cobioer
规格:
1ug/vial * 1 vial
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Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard
Cat No. CBP90021
Test Method 1000x WES+部分位点DdPCR
Description HRR途径相关的28种基因
             
Gene Variant Classification Protein Change CDS Change %AF Clinical significance %DdPCR
ATM frameshift_variant p.N625Ifs*10 c.1873_1874insT 21.57 Pathogenic 17.4
ATM missense_variant p.N1983S c.5948A>G 99.85 Benign N/A
ATM frameshift_variant p.K236Nfs*10 c.708delA 1.61 Uncertain Significance N/A
ATM missense_variant p.A2843V c.8528C>T 21.45 Likely Pathogenic N/A
ATR missense_variant p.R2425Q c.7274G>A 24.38 Benign N/A
ATR splice_region_variant N/A c.6552+5A>G 5.7 Uncertain Significance N/A
ATR intron_variant N/A c.4153-11_4153-10delTT 20.97 Uncertain Significance N/A
ATR frameshift_variant p.I774Yfs*5 c.2320delA 19.835 Uncertain Significance N/A
ATR missense_variant p.L711F c.2131C>T 3.39 Likely Benign N/A
ATR synonymous_variant p.D564= c.1692T>C 24.62 Likely Benign N/A
BARD1 missense_variant p.A724T c.2170G>A 8.135 Uncertain Significance N/A
BARD1 missense_variant p.V507M c.1519G>A 56.205 Benign N/A
BARD1 synonymous_variant p.H506= c.1518T>C 70.16 Benign N/A
BARD1 missense_variant p.R378S c.1134G>C 57.365 Benign N/A
BARD1 missense_variant p.P24S c.70C>T 56.915 Benign N/A
BLM missense_variant p.A603V c.1808C>T 20.905 Uncertain Significance N/A
BLM synonymous_variant p.Q615= c.1845A>G 21.985 Likely Benign N/A
BLM frameshift_variant p.H660Qfs*2 c.1979dupA 21.585 Pathogenic N/A
BLM synonymous_variant p.G921= c.2763C>T 22.105 Likely Benign N/A
BLM synonymous_variant p.T1034= c.3102G>A 31.655 Benign N/A
BLM synonymous_variant p.A1177= c.3531C>A 36.99 Benign N/A
BLM synonymous_variant p.L1315= c.3945C>T 34.21 Benign N/A
BRCA1 missense_variant p.S1634G c.4900A>G 46.035 Benign 58.18
BRCA1 synonymous_variant p.S1436= c.4308T>C 48.82 Benign N/A
BRCA1 missense_variant p.K1183R c.3548A>G 47.325 Benign 54.21
BRCA1 missense_variant p.E1038G c.3113A>G 46.345 Benign N/A
BRCA1 missense_variant p.P871L c.2612C>T 63.68 Benign 57.03
BRCA1 synonymous_variant p.L771= c.2311T>C 48.71 Benign N/A
BRCA1 synonymous_variant p.S694= c.2082C>T 47.16 Benign N/A
BRCA2 missense_variant p.N289H c.865A>C 29.71 Benign 37.64%
BRCA2 synonymous_variant p.S455= c.1365A>G 35.89 Benign N/A
BRCA2 splice_donor_variant N/A c.1909+2T>C 18.955 Pathogenic 20.41
BRCA2 synonymous_variant p.H743= c.2229T>C 34.535 Benign N/A
BRCA2 missense_variant p.N991D c.2971A>G 34.72 Benign 38.09
BRCA2 frameshift_variant p.N1287Ifs*6 c.3860delA 19.925 Pathogenic 18.4
BRCA2 missense_variant p.D1476G c.4427A>G 20.89 Likely Pathogenic N/A
BRCA2 synonymous_variant p.L1521= c.4563A>G 99.94 Benign N/A
BRCA2 missense_variant p.V2014E c.6041T>A 23.005 Likely Pathogenic N/A
BRCA2 synonymous_variant p.V2171= c.6513G>C 99.93 Benign N/A
BRCA2 missense_variant p.V2466A c.7397T>C 99.895 Benign 99.69
BRCA2 stop_gained p.Q2934* c.8800C>T 23.2 Pathogenic 20.2
BRIP1 missense_variant p.N933I c.2798A>T 18.63 Uncertain Significance N/A
BRIP1 synonymous_variant p.E879= c.2637A>G 99.595 Benign N/A
CDK12 missense_variant p.R300K c.899G>A 21.325 Uncertain Significance N/A
CDK12 missense_variant p.I873N c.2618T>A 17.705 Uncertain Significance N/A
CHEK1 synonymous_variant p.Y390= c.1170T>C 22.57 Likely Benign N/A
CHEK1 missense_variant p.I471V c.1411A>G 100 Benign N/A
CHEK2 splice_donor_variant N/A c.721+2T>C 22.06 Pathogenic 19.2
CHEK2 missense_variant p.R188W c.562C>T 13.165 Pathogenic 18.6
FANCA synonymous_variant p.P1218= c.3654A>G 24.475 Benign N/A
FANCA splice_region_variant N/A c.3067-4T>C 23.625 Benign N/A
FANCA synonymous_variant p.S967= c.2901C>T 21.5 Benign N/A
FANCA splice_region_variant N/A c.2779-7T>C 22.005 Benign N/A
FANCA missense_variant p.P643A c.1927C>G 18.555 Benign N/A
FANCA missense_variant p.G501S c.1501G>A 66.755 Benign N/A
FANCA synonymous_variant p.T381= c.1143G>T 24.555 Benign N/A
FANCA splice_region_variant N/A c.894-8A>G 24.575 Benign N/A
FANCA missense_variant p.S208L c.623C>T 24.47 Uncertain Significance N/A
FANCC missense_variant p.G307V c.920G>T 19.015 Uncertain Significance N/A
FANCC missense_variant p.A158V c.473C>T 16.975 Likely Benign N/A
FANCC synonymous_variant p.S156= c.468A>G 16.285 Likely Benign N/A
FANCD2 synonymous_variant p.Y425= c.1275C>T 14.935 Likely Benign N/A
FANCD2 splice_donor_variant N/A c.1278+3_1278+6delAAGT 13.87 Uncertain Significance N/A
FANCF synonymous_variant p.L111= c.331C>T 2.375 Likely Benign N/A
FANCI synonymous_variant p.K849= c.2547G>A 99.9 Benign N/A
FANCL missense_variant p.A299T c.895G>A 21.065 Likely Benign N/A
FANCL intron_variant N/A c.791-10delT 25.73 Uncertain Significance N/A
FANCM synonymous_variant p.L42= c.126G>A 2.01 Likely Benign N/A
FANCM splice_region_variant N/A c.1788+6T>C 22.375 Uncertain Significance N/A
FANCM missense_variant p.V878L c.2632G>T 39.685 Benign N/A
FANCM frameshift_variant p.Q1333Tfs*11 c.3996_3997insA 18.86 Likely Pathogenic N/A
FANCM missense_variant p.S1949T c.5845T>A 19.725 Uncertain Significance N/A
FANCM missense_variant p.M2010V c.6028A>G 20.895 Uncertain Significance N/A
MRE11A splice_region_variant N/A c.1867+6T>C 17.2 Uncertain Significance N/A
MRE11A splice_region_variant N/A c.315-5_315-4delTT 27.945 Uncertain Significance N/A
NBN intron_variant N/A c.1398-10delT 19.56 Uncertain Significance N/A
NBN synonymous_variant p.L34= c.102G>A 34.07 Benign N/A
NBN intron_variant N/A c.38-10_38-9insA 17.625 Uncertain Significance N/A
PALB2 stop_gained p.G808* c.2422G>T 15.005 Pathogenic 21.05
PPP2R2A missense_variant p.C249Y c.746G>A 16.335 Uncertain Significance N/A
RAD50 frameshift_variant p.K722Rfs*14 c.2165delA 20.43 Pathogenic N/A
RAD51B missense_variant p.R348G c.1042A>G 25.77 Likely Benign N/A
RAD51C missense_variant p.T287A c.859A>G 10.79 Benign N/A
RAD51D synonymous_variant p.V66= c.198G>T 21.21 Likely Benign N/A
RAD52 missense_variant p.R253C c.757C>T 22.585 Uncertain Significance N/A
RAD52 splice_region_variant N/A c.348+7_348+8insA 34.44 Uncertain Significance N/A
RAD54L missense_variant p.R587W c.1759C>T 12.65 Likely Benign N/A
RPA1 missense_variant p.A128V c.383C>T 22.53 Uncertain Significance N/A
RPA1 synonymous_variant p.S352= c.1056C>T 43.09 Benign N/A
RPA1 frameshift_variant p.E363Kfs*60 c.1087delG 19.995 Pathogenic N/A
RPA1 synonymous_variant p.S535= c.1605T>C 39.92 Benign N/A
To get the complete informations of 1000x WES, please contact us.
             
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 -20°C
Expiry 36 months from the date of manufacture
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