Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard（Discontinued）

CBP90021

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Introduction
专利	该产品开发基于我们<<一种用于DNA同源重组修复基因检测的标准品及其制备方法>>专利转化
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	Cosmic ID	Chr position (GRCh37)
ATM	frameshift_variant	p.Q628fs	c.1880dupT	21.57	Pathogenic	18	N/A	chr11:108123616
ATM	missense_variant	p.N1983S	c.5948A>G	99.85	Benign	N/A	N/A	chr11:108183167
ATM	missense_variant	p.A2843V	c.8528C>T	21.45	Likely Pathogenic	N/A	N/A	chr11:108216579
ATR	missense_variant	p.R2425Q	c.7274G>A	24.38	Benign	N/A	COSM149485	chr3:142178144
ATR	splice_region_variant	N/A	c.6552+5A>G	5.7	Uncertain Significance	N/A	N/A	chr3:142188174
ATR	intron_variant	N/A	c.4153-11_4153-10delTT	20.97	Uncertain Significance	N/A	COSM1617014	chr3:142241703..142241704
ATR	frameshift_variant	p.I774Yfs*5	c.2320delA	19.835	Uncertain Significance	N/A	COSM214499	chr3:142274749
ATR	missense_variant	p.L711F	c.2131C>T	3.39	Likely Benign	N/A	N/A	chr3:142274929
ATR	synonymous_variant	p.D564=	c.1692T>C	24.62	Likely Benign	N/A	N/A	chr3:142278133
BARD1	missense_variant	p.A724T	c.2170G>A	8.135	Uncertain Significance	N/A	COSM1669728	chr2:215593564
BARD1	missense_variant	p.V507M	c.1519G>A	56.205	Benign	N/A	COSM3757929	chr2:215632255
BARD1	synonymous_variant	p.H506=	c.1518T>C	70.16	Benign	N/A	COSM7131995	chr2:215632256
BARD1	missense_variant	p.R378S	c.1134G>C	57.365	Benign	N/A	COSM3757931	chr2:215645464
BARD1	missense_variant	p.P24S	c.70C>T	56.915	Benign	N/A	COSM442275	chr2:215674224
BLM	missense_variant	p.A603V	c.1808C>T	20.905	Uncertain Significance	N/A	N/A	chr15:91304411
BLM	synonymous_variant	p.Q615=	c.1845A>G	21.985	Likely Benign	N/A	N/A	chr15:91304448
BLM	frameshift_variant	p.H660Qfs*2	c.1979dupA	21.585	Pathogenic	19.9	N/A	chr15:91306292
BLM	synonymous_variant	p.G921=	c.2763C>T	22.105	Likely Benign	N/A	N/A	chr15:91328251
BLM	synonymous_variant	p.T1034=	c.3102G>A	31.655	Benign	N/A	N/A	chr15:91337479
BLM	synonymous_variant	p.A1177=	c.3531C>A	36.99	Benign	N/A	N/A	chr15:91346923
BLM	synonymous_variant	p.L1315=	c.3945C>T	34.21	Benign	N/A	N/A	chr15:91354505
BRCA1	missense_variant	p.S663N	c.1988G>A	12.96	Uncertain Significance	19	COSM3190090	chr17:41245560
BRCA1	missense_variant	p.S1634G	c.4900A>G	46.035	Benign	58.18	COSM3755559	chr17:41223094
BRCA1	synonymous_variant	p.S1436=	c.4308T>C	48.82	Benign	N/A	COSM4416374	chr17:41234470
BRCA1	missense_variant	p.K1183R	c.3548A>G	47.325	Benign	54.21	COSM148277	chr17:41244000
BRCA1	missense_variant	p.E1038G	c.3113A>G	46.345	Benign	N/A	COSM3755562	chr17:41244435
BRCA1	missense_variant	p.P871L	c.2612C>T	63.68	Benign	57.03	COSM148278	chr17:41244936
BRCA1	synonymous_variant	p.L771=	c.2311T>C	48.71	Benign	N/A	COSM3755565	chr17:41245237
BRCA1	synonymous_variant	p.S694=	c.2082C>T	47.16	Benign	N/A	N/A	chr17:41245466
BRCA2	missense_variant	p.A487V	c.1460C>T	15.96	Uncertain Significance	20.7	COSM1677593	chr13:32907075
BRCA2	missense_variant	p.N289H	c.865A>C	29.71	Benign	37.64	COSM3999066	chr13:32906480
BRCA2	synonymous_variant	p.S455=	c.1365A>G	35.89	Benign	N/A	COSM3999068	chr13:32906980
BRCA2	splice_donor_variant	N/A	c.1909+2T>C	18.955	Pathogenic	20.41	N/A	chr13:32907526
BRCA2	synonymous_variant	p.H743=	c.2229T>C	34.535	Benign	N/A	COSM5019762	chr13:32910721
BRCA2	missense_variant	p.N991D	c.2971A>G	34.72	Benign	38.09	COSM4986759	chr13:32911463
BRCA2	frameshift_variant	p.N1287Ifs*6	c.3860delA	19.925	Pathogenic	18.4	COSM29753	chr13:32912352
BRCA2	missense_variant	p.D1476G	c.4427A>G	20.89	Likely Pathogenic	17.3	COSM2071387	chr13:32912919
BRCA2	synonymous_variant	p.L1521=	c.4563A>G	99.94	Benign	N/A	COSM9180822	chr13:32913055
BRCA2	missense_variant	p.R2784Q	c.8351G>A	12.78	Pathogenic	18.7	N/A	chr13:32944558
BRCA2	missense_variant	p.V2014E	c.6041T>A	23.005	Likely Pathogenic	N/A	N/A	chr13:32914533
BRCA2	synonymous_variant	p.V2171=	c.6513G>C	99.93	Benign	N/A	COSM4147689	chr13:32915005
BRCA2	missense_variant	p.V2466A	c.7397T>C	99.895	Benign	99.69	COSM7335572	chr13:32929387
BRCA2	stop_gained	p.Q2934*	c.8800C>T	23.2	Pathogenic	20.2	N/A	chr13:32953499
BRIP1	missense_variant	p.N933I	c.2798A>T	18.63	Uncertain Significance	N/A	COSM2793759	chr17:59763304
BRIP1	synonymous_variant	p.E879=	c.2637A>G	99.595	Benign	N/A	N/A	chr17:59763465
CDK12	missense_variant	p.R300K	c.899G>A	21.325	Uncertain Significance	N/A	N/A	chr17:37619223
CDK12	missense_variant	p.I873N	c.2618T>A	17.705	Uncertain Significance	N/A	N/A	chr17:37665966
CHEK1	synonymous_variant	p.Y390=	c.1170T>C	22.57	Likely Benign	N/A	N/A	chr11:125514475
CHEK1	missense_variant	p.I471V	c.1411A>G	100	Benign	N/A	N/A	chr11:125525195
CHEK2	splice_donor_variant	N/A	c.721+2T>C	22.06	Pathogenic	19.2	COSM2935990	chr22:29120963
CHEK2	missense_variant	p.R188W	c.562C>T	13.165	Pathogenic	18.6	COSM2935997	chr22:29121242
FANCA	synonymous_variant	p.P1218=	c.3654A>G	24.475	Benign	N/A	COSM4416265	chr16:89809319
FANCA	splice_region_variant	N/A	c.3067-4T>C	23.625	Benign	N/A	COSM5021114	chr16:89816314
FANCA	synonymous_variant	p.S967=	c.2901C>T	21.5	Benign	N/A	COSM3999984	chr16:89825065
FANCA	splice_region_variant	N/A	c.2779-7T>C	22.005	Benign	N/A	COSM3999985	chr16:89828437
FANCA	missense_variant	p.P643A	c.1927C>G	18.555	Benign	N/A	COSM5021046	chr16:89839766
FANCA	missense_variant	p.G501S	c.1501G>A	66.755	Benign	N/A	COSM4984954	chr16:89849480
FANCA	synonymous_variant	p.T381=	c.1143G>T	24.555	Benign	N/A	COSM3999986	chr16:89858417
FANCA	splice_region_variant	N/A	c.894-8A>G	24.575	Benign	N/A	COSM4416092	chr16:89862434
FANCA	missense_variant	p.S208L	c.623C>T	24.47	Uncertain Significance	N/A	COSM5754957	chr16:89871774
FANCC	missense_variant	p.G307V	c.920G>T	19.015	Uncertain Significance	N/A	N/A	chr9:97887444
FANCC	missense_variant	p.A158V	c.473C>T	16.975	Likely Benign	N/A	COSM2733054	chr9:97933409
FANCC	synonymous_variant	p.S156=	c.468A>G	16.285	Likely Benign	N/A	N/A	chr9:97933414
FANCD2	synonymous_variant	p.Y425=	c.1275C>T	14.935	Likely Benign	N/A	COSM1417229	chr3:10088404
FANCD2	splice_donor_variant	N/A	c.1278+3_1278+6delAAGT	13.87	Uncertain Significance	N/A	COSM2915288	chr3:10088410_10088413
FANCF	synonymous_variant	p.L111=	c.331C>T	2.375	Likely Benign	N/A	N/A	chr11:22647026
FANCI	synonymous_variant	p.K849=	c.2547G>A	99.9	Benign	N/A	N/A	chr15:89838236
FANCL	missense_variant	p.A299T	c.895G>A	21.065	Likely Benign	N/A	N/A	chr2:58390024
FANCL	intron_variant	N/A	c.791-10delT	25.73	Uncertain Significance	N/A	N/A	chr2:58390219
FANCM	synonymous_variant	p.L42=	c.126G>A	2.01	Likely Benign	N/A	N/A	chr14:45605360
FANCM	splice_region_variant	N/A	c.1788+6T>C	22.375	Uncertain Significance	N/A	N/A	chr14:45633774
FANCM	missense_variant	p.V878L	c.2632G>T	39.685	Benign	N/A	COSM3753964	chr14:45644589
FANCM	frameshift_variant	p.Q1333Tfs*11	c.3996_3997insA	18.86	Likely Pathogenic	N/A	N/A	chr14:45645953_45645954
FANCM	missense_variant	p.S1949T	c.5845T>A	19.725	Uncertain Significance	N/A	N/A	chr14:45667975
FANCM	missense_variant	p.M2010V	c.6028A>G	20.895	Uncertain Significance	18.9	N/A	chr14:45669092
MRE11A	splice_region_variant	N/A	c.1867+6T>C	17.2	Uncertain Significance	N/A	N/A	chr11:94178970
MRE11A	splice_region_variant	N/A	c.315-5_315-4delTT	27.945	Uncertain Significance	N/A	COSM3728955	chr11:94212940_94212941
NBN	intron_variant	N/A	c.1398-10delT	19.56	Uncertain Significance	N/A	COSM1258762	chr8:90965937
NBN	synonymous_variant	p.L34=	c.102G>A	34.07	Benign	N/A	COSM3763444	chr8:90995019
NBN	intron_variant	N/A	c.38-10_38-9insA	17.625	Uncertain Significance	N/A	N/A	chr8:90995093_90995092
PALB2	stop_gained	p.G808*	c.2422G>T	15.005	Pathogenic	21.05	COSM1678936	chr16:23641053
PPP2R2A	missense_variant	p.C249Y	c.746G>A	16.335	Uncertain Significance	N/A	N/A	chr8:26220278
RAD50	frameshift_variant	p.K722Rfs*14	c.2165delA	20.43	Pathogenic	N/A	COSM1433045	chr5:131931460
RAD51B	missense_variant	p.R348G	c.1042A>G	25.77	Likely Benign	N/A	N/A	N/A
RAD51C	missense_variant	p.T287A	c.859A>G	10.79	Benign	N/A	COSM9494459	chr17:56798128
RAD51D	synonymous_variant	p.V66=	c.198G>T	21.21	Likely Benign	N/A	N/A	N/A
RAD52	missense_variant	p.R253C	c.757C>T	22.585	Uncertain Significance	N/A	N/A	chr12:1025670
RAD52	splice_region_variant	N/A	c.348+7_348+8insA	34.44	Uncertain Significance	N/A	N/A	chr12:1038978_1038977
RAD54L	missense_variant	p.R587W	c.1759C>T	12.65	Likely Benign	N/A	N/A	chr1:46740279
RPA1	missense_variant	p.A128V	c.383C>T	22.53	Uncertain Significance	N/A	N/A	chr17:1775749
RPA1	synonymous_variant	p.S352=	c.1056C>T	43.09	Benign	N/A	COSM6354194	chr17:1782957
RPA1	frameshift_variant	p.E363Kfs*60	c.1087delG	19.995	Pathogenic	N/A	N/A	chr17:1782988
RPA1	synonymous_variant	p.S535=	c.1605T>C	39.92	Benign	N/A	COSM4000039	chr17:1795180
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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