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Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I

CBP90019

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Panel-Ref® BRCA1/2 Somatic Mutation Cocktail I
Cat No.	CBP90019
Description	主要包含BRCA1和BRCA2的SNV和indel，用于相关的试剂盒和Panel检测服务的质控。

Gene	Clinical significance	DNA change	AA change	Functional class	Variant annotation	Cosmic ID	Chr position (GRCh37)
BRCA1	Benign	c.4837A>G	p.S1634G	missense_variant	5.00%	COSM3755559	chr17:41223094
BRCA1	Benign	c.3548A>G	p.K1183R	missense_variant	5.00%	COSM148277	chr17:41244000
BRCA1	Benign	c.2612C>T	p.P871Q	missense_variant	45.00%	COSM148278	chr17:41244936
BRCA1	Benign	c.2458A>G	K820E	missense_variant	5.00%	COSM7353052	chr17:41245090
BRCA1	Benign	c.2082C>T	p.S694S	synonymous_variant	5.00%	N/A	chr17:41245466
BRCA1	Uncertain significance	c.1303G>T	p.D435Y	missense_variant	5.00%	COSM3190122	chr17:41246245
BRCA2	Benign	c.865A>C	p.N289D	missense_variant	5.00%	COSM3999066	chr13:32906480
BRCA2	Benign	c.2229T>C	p.H743H	synonymous_variant	5.00%	COSM5019762	chr13:32910721
BRCA2	Benign	c.2971A>G	p.N991D	missense_variant	5.00%	COSM4986759	chr13:32911463
BRCA2	Benign	c.3516G>A	p.S1172S	synonymous_variant	5.00%	COSM9269246	chr13:32912008
BRCA2	Benign	c.3807T>C	p.V1269V	synonymous_variant	5.00%	COSM6849605	chr13:32912299
BRCA2	Benign	c.4563A>G	p.L1521L	synonymous_variant	100.00%	COSM9180822	chr13:32913055
BRCA2	Pathogenic	c.5345delA	p.N1784fs	frameshift_variant	10.00%	COSM18607	chr13:32913843
BRCA2	Benign	c.6513G>C	p.V2171V	synonymous_variant	100.00%	COSM4147689	chr13:32915005
BRCA2	Benign	c.7397T>C	p.V2466A	missense_variant	100.00%	COSM7335572	chr13:32929387
BRCA1	Pathogenic	c.4327C>T	p.R1443*	stop_gained	1.00%	COSM979730	chr17:41234451
BRCA2	Benign	c.3396A>G	p.K1132K	synonymous_variant	45.00%	COSM4415775	chr13:32911888
BRCA2	Benign	c.4258G>T	p.D1420Y	missense_variant	5.00%	COSM3736087	chr13:32912750
BRCA2	Pathogenic	c.5067delA	p.K1691fs	frameshift_variant	5.00%	N/A	chr13:32913559
BRCA2	Benign	c.1365A>G	p.S455S	synonymous_variant	5.00%	N/A	chr13:32906980
BRCA2	Benign	c.7242A>G	p.S2414S	synonymous_variant	37.00%	N/A	chr13:32929232

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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