Detailed introduction

Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard
Cat No.	RQP90044
Test Method	1000x WES+部分位点DdPCR
Description	HRR途径相关的28种基因

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	2014.00%	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	4°C
Expiry	36 months from the date of manufacture

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

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