CRO服务

| 基因突变与肿瘤发生

癌基因和抑癌基因突变是肿瘤发生中出现频率较高的分子事件,不仅在肿瘤细胞中可检测到突变基因,在一些癌前病变或癌前状态的组织细胞中也存在不同形式和程度的基因突变,基因突变的检测对研究肿瘤发生机制、诊断和鉴别诊断、预后评估及治疗方案选择等都有重要价值。基因突变形式主要有点突变、基因缺失(1~2个碱基缺失,一个片段或一个外显子缺失)、基因易位或重排、基因插入、甲基化及染色体非组蛋白改变等。

 

| 肿瘤分子诊断的发展前景及其标准化

分子诊断技术是肿瘤分子病理研究具有划时代意义的检测手段,拓宽了病理学研究的范围,使我们对肿瘤发生发展、形态特征、生物学行为的认识进入分子水平,分子诊断的大部分技术已日趋成熟。

 

分子诊断目前仍存在一些问题,由于其技术一般都具有敏感性高的特点,特别是PCR和NGS技术,结果影响因素较多,最大的问题为技术性假阳性和假阴性。要使检测技术具有高敏感性,又要确保检测结果的高特异性和重复性,质量控制至关重要,关键在于建立标准化的实验操作程序和标准化的分子诊断实验室和标准化的诊断指标。


| Mutation标准品细胞株定制

NGS肿瘤多基因检测试剂盒适用于检测患者肿瘤组织中与靶向治疗密切相关的多个基因的突变状态,依此筛选出适合接受靶向药物治疗的患者,突破传统检测一份标本只能做一次检测的局限,减轻患者经济负担,实现精细化精准医疗。


海星生物成熟的基因编辑系统:CRISPR/Cas9基因定点编辑技术、VIRUS-Free™ 基因稳转技术、ClonePlus™细胞单克隆等三大核心技术,可以轻松实现:多基因、高频率、稳定传代的肿瘤突变标准品细胞株构建,有效解决多基因多细胞系混合突变频率低的难题。


案例1:Point Mutation

EGFR c.2303G>T p.S768I    Mutation AF:100%

image.png

案例2:Small Insertion

EGFR c.2310_2311insGGT p.D770_N771insG   Mutation AF:100% 

image.png

案例3:Deletion

EGFR c.2239_2256del18 p.L747_S752del   Mutation AF:100% 

image.png


| 海星生物HyCyteREFTM分子诊断标准品特点

· 可再生

· 有类似检测样本的基因组复杂结构(异质性)

· 有明确的拷贝数和等位基因数

· 质量高度稳定、均一性好

· 具有临床标本和肿瘤细胞的特性

· 无伦理风险


| 海星生物HyCyte分子诊断标准品细胞株制备流程

流程图.jpg

海星生物专注细胞基因编辑(基因敲除\敲入\突变\过表达)十年:为基因检测提供参考品细胞株开发,已经和多家基因诊断公司建立合作。海星生物可以提供诊断试剂盒标准品定制化服务,为客户定制拷贝数固定(或高突变频率)的单核苷酸变异(SNV)、碱基缺失(Deletion)、碱基插入(Insertion)、基因融合(Fusion)、拷贝数变异(CNV)等各种变异类型的标准品细胞株,可应用于基因检测的上游试剂盒研发、企业参考盘注册申报、生产质检,下游ICL的日常质控、EQA支持。解决临床样本有限,稀有突变难获得的问题。还可以订制开发IHC(免疫组化)标准品细胞株,解决细胞系表达丰度不稳定,染色深浅不一的问题。此外针对肿瘤早筛甲基化检测试剂盒,海星生物可以提供低甲基化水平DNA参考物质。


附:FDA 2级肿瘤突变位点(临床意义)


ABL1基因






ABL1-E255K

ABL1-E255V

ABL1-F317C

ABL1-F317I

ABL1-F359C

ABL1-F359I

ABL1-F359V

ABL1-G250E

ABL1-T315A

ABL1-T315I

ABL1-V299L

ABL1-Y253H







ALK基因






ALK-G1128A

ALK-G1269A

ALK-G881D

ALK-H694R

ALK-I1170N

ALK-I1170S

ALK-I1171N

ALK-K1062M

ALK-L1196M

ALK-L1198F

ALK-M1166R

ALK-R1192P

ALK-R1275Q

ALK-V597A

ALK-Y1278S










ATM基因






ATM-A1742P

ATM-A2062V

ATM-A2067D

ATM-A59S

ATM-C2488Y

ATM-D1682H

ATM-D1682Y

ATM-D2708N

ATM-E1978*

ATM-F1025L

ATM-F2732V

ATM-F2827C

ATM-G2718_K2756del

ATM-G2765S

ATM-H1380Y

ATM-H2038Y

ATM-H2554D

ATM-I1681V

ATM-I323V

ATM-K1807E

ATM-K2749I

ATM-L1465P

ATM-L1874F

ATM-L1956H

ATM-L2338P

ATM-L2427_R2428del

ATM-L2427P

ATM-L2452P

ATM-L2890V

ATM-L590R

ATM-N2326_K2363del

ATM-N2875K

ATM-P2699L

ATM-P292L

ATM-P2974L

ATM-P604S

ATM-P960H

ATM-Q2730P

ATM-R2034P

ATM-R2506_N2543del

ATM-R2547_S2549del

ATM-R2642S

ATM-R2691C

ATM-R2832C

ATM-R3008C

ATM-R3008H

ATM-R3047*

ATM-R337S

ATM-S1455R

ATM-S2394L

ATM-S2592C

ATM-S2855_V2856delinsRI

ATM-S824F

ATM-T1743I

ATM-T2666A

ATM-T2947S

ATM-Truncating Mutations

ATM-V1941L

ATM-V2424G

ATM-V519I

ATM-Y1961C

ATM-Y2019C











BARD1基因






BARD1-C53W

BARD1-C71Y

BARD1-C83R

BARD1-Deletion

BARD1-L44R

BARD1-R99E







BRAF基因






BRAF-A246P

BRAF-A489_P490del

BRAF-A598V

BRAF-A728V

BRAF-D287H

BRAF-D594A

BRAF-D594E

BRAF-D594G

BRAF-D594H

BRAF-D594N

BRAF-D594V

BRAF-D594Y

BRAF-E275K

BRAF-E586K

BRAF-F247L

BRAF-F468C

BRAF-F595L

BRAF-G464E

BRAF-G464R

BRAF-G464V

BRAF-G466A

BRAF-G466E

BRAF-G466R

BRAF-G466V

BRAF-G469A

BRAF-G469del

BRAF-G469E

BRAF-G469L

BRAF-G469R

BRAF-G469V

BRAF-G596C

BRAF-G596D

BRAF-G596R

BRAF-G596V

BRAF-H574Q

BRAF-K483E

BRAF-K483M

BRAF-K499E

BRAF-K601_S602delinsNT

BRAF-K601E

BRAF-K601N

BRAF-K601Q

BRAF-K601T

BRAF-Kinase Domain Duplication

BRAF-L485_P490del

BRAF-L485_P490delinsF

BRAF-L485_P490delinsY

BRAF-L485_Q494del

BRAF-L485F

BRAF-L505H

BRAF-L514V

BRAF-L597Q

BRAF-L597R

BRAF-L597S

BRAF-L597V

BRAF-N486_A489del

BRAF-N486_P490del

BRAF-N486_T488del

BRAF-N486_T491del

BRAF-N486_T491delinsK

BRAF-N486_V487del

BRAF-N581D

BRAF-N581I

BRAF-N581S

BRAF-N581Y

BRAF-P367R

BRAF-P490_Q494del

BRAF-p61BRAF-V600E

BRAF-Q257R

BRAF-R462E

BRAF-R506_K507insVLR

BRAF-R671Q

BRAF-S151A

BRAF-S467A

BRAF-S467L

BRAF-T241P

BRAF-T488_P492del

BRAF-T599_V600insEAT

BRAF-T599_V600insETT

BRAF-T599_V600insV

BRAF-T599dup

BRAF-T599I

BRAF-T599insTT

BRAF-T599R

BRAF-V459L

BRAF-V471F

BRAF-V487_P490del

BRAF-V487_P492delinsA

BRAF-V600

BRAF-V600_K601delinsE

BRAF-V600_K601insDFGLAT

BRAF-V600D

BRAF-V600delinsYM

BRAF-V600E

BRAF-V600G

BRAF-V600K

BRAF-V600M

BRAF-V600R

BRAF-Y472C










BRCA1基因






BRCA1-A1708E

BRCA1-A1752P

BRCA1-A1752V

BRCA1-A1789T

BRCA1-A1823T

BRCA1-A1843P

BRCA1-A1843T

BRCA1-C1697R

BRCA1-C24R

BRCA1-C24Y

BRCA1-C27A

BRCA1-C39Y

BRCA1-C44F

BRCA1-C44Y

BRCA1-C47G

BRCA1-C61G

BRCA1-C64G

BRCA1-D1692H

BRCA1-D1692N

BRCA1-D1692Y

BRCA1-D1739E

BRCA1-D1739G

BRCA1-D1739V

BRCA1-D1739Y

BRCA1-Deletion

BRCA1-E1660G

BRCA1-E23fs

BRCA1-E33A

BRCA1-F1704S

BRCA1-F1734L

BRCA1-F1734S

BRCA1-F1761I

BRCA1-F1761S

BRCA1-G1656D

BRCA1-G1706E

BRCA1-G1738E

BRCA1-G1738R

BRCA1-G1743R

BRCA1-G1763V

BRCA1-G1770V

BRCA1-G1788D

BRCA1-G1788V

BRCA1-G1803A

BRCA1-H1686Q

BRCA1-H1686R

BRCA1-H1746N

BRCA1-H41R

BRCA1-I1766S

BRCA1-I1807S

BRCA1-K1487R

BRCA1-K1702E

BRCA1-L1407P

BRCA1-L1657P

BRCA1-L1705P

BRCA1-L1764P

BRCA1-L1780P

BRCA1-L1854P

BRCA1-L22S

BRCA1-M1628V

BRCA1-M1652K

BRCA1-M1689R

BRCA1-M1689T

BRCA1-M1775E

BRCA1-M1775K

BRCA1-M1775R

BRCA1-M18T

BRCA1-M1R

BRCA1-P1749R

BRCA1-P1812A

BRCA1-Q1756C

BRCA1-Q1756fs

BRCA1-Q1811R

BRCA1-R1495K

BRCA1-R1699L

BRCA1-R1699Q

BRCA1-R1699W

BRCA1-R1751P

BRCA1-R1753T

BRCA1-R1835PBRCA1-R71G

BRCA1-S1164I

BRCA1-S1655F

BRCA1-S1715C

BRCA1-S1715N

BRCA1-S1715R

BRCA1-S1722F

BRCA1-S1841A

BRCA1-S1841N

BRCA1-S1841R

BRCA1-T1685A

BRCA1-T1685I

BRCA1-T1691I

BRCA1-T1691K

BRCA1-T1700A

BRCA1-T1773I

BRCA1-T37R

BRCA1-Truncating Mutations

BRCA1-V1653M

BRCA1-V1688del

BRCA1-V1696L

BRCA1-V1713A

BRCA1-V1714G

BRCA1-V1736A

BRCA1-V1736G

BRCA1-V1741G

BRCA1-V1809F

BRCA1-V1810G

BRCA1-V1833E

BRCA1-V1833M

BRCA1-V1838E

BRCA1-W1718C

BRCA1-W1718L

BRCA1-W1718S

BRCA1-W1837C

BRCA1-W1837G

BRCA1-W1837R

BRCA1-Y1703H

BRCA1-Y1703S

BRCA1-Y1853*

BRCA1-Y1853C








BRCA2基因






BRCA2-A1847_M1890del

BRCA2-A2603P

BRCA2-A2786P

BRCA2-D191G

BRCA2-D2723A

BRCA2-D2723G

BRCA2-D2723H

BRCA2-D2723V

BRCA2-D3073G

BRCA2-D3095E

BRCA2-Deletion

BRCA2-E1382del

BRCA2-E2663V

BRCA2-E2847K

BRCA2-E3002K

BRCA2-F2562L

BRCA2-F2642S

BRCA2-G173C

BRCA2-G2585R

BRCA2-G2596E

RCA2-G2596R

BRCA2-G2609D

BRCA2-G2609V

BRCA2-G2748D

BRCA2-G2793E

BRCA2-G2793R

BRCA2-G3003E

BRCA2-G3076E

BRCA2-G3076R

BRCA2-G3076V

BRCA2-H2623R

BRCA2-I2627F

BRCA2-I2675V

BRCA2-K1025_K1026delinsN*

BRCA2-K1872*

BRCA2-K2498E

BRCA2-K2630Q

BRCA2-L2510P

BRCA2-L2647P

BRCA2-L2653P

BRCA2-L2686P

BRCA2-L2688P

BRCA2-L2721H

BRCA2-L2792P

BRCA2-L3125H

BRCA2-N2829R

BRCA2-N3124I

BRCA2-Q2561P

BRCA2-Q2655R

BRCA2-Q2925K

BRCA2-R2336H

BRCA2-R2336P

BRCA2-R259fs*15

BRCA2-R2602T

BRCA2-R2659K

BRCA2-R2659T

BRCA2-R2784Q

BRCA2-R2784W

BRCA2-R2842C

BRCA2-R3052W

BRCA2-S142I

BRCA2-S1834_G1892del

BRCA2-S1869_N1877del

BRCA2-S1871_C1893del

BRCA2-S196N

BRCA2-S206C

BRCA2-S2670L

BRCA2-S2691F

BRCA2-T1302del

BRCA2-T1815_Y1894del

BRCA2-T2515I

BRCA2-T2722R

BRCA2-Truncating Mutations

BRCA2-V1790_A1996del

BRCA2-V1839_E1901del

BRCA2-V211I

BRCA2-W2626C

BRCA2-W2725L

BRCA2-W2788R

BRCA2-W2788S

BRCA2-Y2660D

BRCA2-Y2726C









BRIP1基因






BRIP1-A349P

BRIP1-C832Y

BRIP1-D791V

BRIP1-Deletion

BRIP1-E511G

BRIP1-E636K

BRIP1-G649S

BRIP1-G690E

BRIP1-I691L

BRIP1-I782V

BRIP1-K52R

BRIP1-K797R

BRIP1-P47A

BRIP1-R173C

BRIP1-R251C

BRIP1-R777C

BRIP1-R798*

BRIP1-R865W

BRIP1-Truncating Mutations

BRIP1-V676E

BRIP1-Y822H










BTK基因

BTK-C481S









CDK12基因






CDK12-D877N

CDK12-Deletion

CDK12-G909R

CDK12-K765R

CDK12-L996F

CDK12-R882L

CDK12-Truncating Mutations

CDK12-W719*

CDK12-Y901C










CHEK基因






CHEK1-Truncating Mutations

CHEK2-E161del

CHEK2-E321K

CHEK2-E64K

CHEK2-H371Y

CHEK2-I157T

CHEK2-I189V

CHEK2-K373E

CHEK2-R117G

CHEK2-R145W

CHEK2-S372F

CHEK2-S428F

CHEK2-Truncating Mutations












EGFR基因






EGFR-Exon 19 deletion

EGFR-Exon 20 insertion

EGFR-G719

EGFR-L858R

EGFR-L861Q

EGFR-S768I

EGFR-T790M












ERBB2基因






ERBB2-A1232fs

ERBB2-A440T

ERBB2-A644F

ERBB2-A710V

ERBB2-A775_G776insYVMA

ERBB2-D769Y

ERBB2-D808N

ERBB2-D821N

ERBB2-E265K

ERBB2-E321G

ERBB2-E645F

ERBB2-E693K

ERBB2-E717K

ERBB2-E719G

ERBB2-E719K

ERBB2-E770_A771insAYVM

ERBB2-E812K

ERBB2-Exon 20 deletions

ERBB2-Exon 20 insertions

ERBB2-G222C

ERBB2-G292R

ERBB2-G309A

ERBB2-G309E

ERBB2-G660D

ERBB2-G660R

ERBB2-G776_V777insVGC

ERBB2-G776_V777insYVMA

ERBB2-G776delinsLC

ERBB2-G776delinsVC

ERBB2-G776S

ERBB2-G776V

ERBB2-G778_P780dup

ERBB2-G778_S779insG

ERBB2-H878Y

ERBB2-I682G

ERBB2-I767M

ERBB2-L651V

ERBB2-L663P

ERBB2-L674V

ERBB2-L726F

ERBB2-L726I

ERBB2-L755_E757delinsS

ERBB2-L755_T759del

ERBB2-L755P

ERBB2-L755S

ERBB2-L785F

ERBB2-L841V

ERBB2-L866M

ERBB2-L869R

ERBB2-L915M

ERBB2-M774_A775insAYVM

ERBB2-N857S

ERBB2-P650S

ERBB2-P780_Y781insGSP

ERBB2-P780L

ERBB2-Q709L

ERBB2-R217C

ERBB2-R487W

ERBB2-R677L

ERBB2-R678Q

ERBB2-R678W

ERBB2-R683Q

ERBB2-R784C

ERBB2-R896C

ERBB2-S1002R

ERBB2-S310F

ERBB2-S310Y

ERBB2-S649T

ERBB2-S653C

ERBB2-S656C

ERBB2-S783P

ERBB2-T686A

ERBB2-T733I

ERBB2-T798M

ERBB2-T862A

ERBB2-V659E

ERBB2-V659G

ERBB2-V659K

ERBB2-V773A

ERBB2-V777A

ERBB2-V777L

ERBB2-V777M

ERBB2-V794M

ERBB2-V839G

ERBB2-V842I

ERBB2-Y772_A775dup

ERBB2-Y803N










EZH2基因






EZH2-A687V

EZH2-A692V

EZH2-C576W

EZH2-Overexpression

EZH2-R690C

EZH2-Truncating Mutations

EZH2-Y646C

EZH2-Y646FEZH2-Y646H

EZH2-Y646N

EZH2-Y646S

EZH2-Y731D








FANCL基因

FANCL-Truncating Mutations









FGFR3基因






FGFR3-G370C

FGFR3-R248C

FGFR3-S249C

FGFR3-Y373C









FLT3基因






3-D835

FLT3-I836

FLT3-Internal tandem duplication

FLT








IDH1基因






IDH1-G97D

IDH1-R100A

IDH1-R132

IDH1-R132C

IDH1-R132G

IDH1-R132H

IDH1-R132L

IDH1-R132Q

IDH1-R132S

IDH1-Y139D









IDH2基因






IDH2-R140Q

IDH2-R172G

IDH2-R172K

IDH2-R172M

IDH2-R172S








KIT基因






KIT-A502_Y503dup

KIT-A829P

KIT-C809G

KIT-D572_P573dup

KIT-D572A

KIT-D579_H580insFNPTQLPYD

KIT-D579_H580insLPCD

KIT-D579del

KIT-D816

KIT-D820

KIT-E554_I571del

KIT-E554_K558del

KIT-E554_V559del

KIT-Exon 11 deletion

KIT-I563_L576del

KIT-K509I

KIT-K550_G592del

KIT-K550_K558del

KIT-K550_V555delinsI

KIT-K550_W557del

KIT-K558_E562del

KIT-K558_V559del

KIT-K558_V560del

KIT-K558delinsNP

KIT-K558N

KIT-K642E

KIT-L576del

KIT-L576P

KIT-M552_K558del

KIT-M552_W557del

KIT-N505I

KIT-N564_Y578del

KIT-N822

KIT-P551_E554del

KIT-P551_M552del

KIT-P551_V555del

KIT-P551_W557delinsL

KIT-P573_D579del

KIT-P573Q

KIT-P577_D579del

KIT-P577_R588dup

KIT-P577_W582delinsPYD

KIT-P577del

KIT-Q556_K558del

KIT-Q575_L576dup

KIT-Q575_P585dup

KIT-S476I

KIT-S501_A502dup

KIT-T574_R588delinsL

KIT-T574insTQLPYD

KIT-T670I

KIT-V555_L576del

KIT-V555_V559del

KIT-V559_G565del

KIT-V559_V560del

KIT-V559A

KIT-V559C

KIT-V559D

KIT-V559del

KIT-V559F

KIT-V559G

KIT-V559I

KIT-V560D

KIT-V560del

KIT-V560E

KIT-V560G

KIT-V569_L576del

KIT-V654A

KIT-W557_K558del

KIT-W557_V559delinsC

KIT-W557_V560del

KIT-W557C

KIT-W557G

KIT-W557R

KIT-X550_splice

KIT-Y553_K558del

KIT-Y553_Q556del

KIT-Y568_L576delinsVN

KIT-Y578_D579dup

KIT-Y578_D579insEQQLPY

KIT-Y578C

KIT-Y823D









KRAS基因






KRAS-A11_G12insGA

KRAS-A146P

KRAS-A146T

KRAS-A146V

KRAS-A18D

KRAS-A59G

KRAS-A59T

KRAS-D119N

KRAS-D153V

KRAS-D33E

KRAS-E31D

KRAS-E62_A66dup

KRAS-E62K

KRAS-E63K

KRAS-F156L

KRAS-F28L

KRAS-G10dup

KRAS-G12A

KRAS-G12C

KRAS-G12D

KRAS-G12F

KRAS-G12R

KRAS-G12S

KRAS-G12V

KRAS-G12W

KRAS-G13C

KRAS-G13D

KRAS-G13E

KRAS-G13R

KRAS-G13V

KRAS-G60_A66dup

KRAS-G60R

KRAS-K117D

KRAS-K117N

KRAS-K147E

KRAS-K5N

KRAS-L19F

KRAS-P34LKRAS-P34R

KRAS-Q22E

KRAS-Q22K

KRAS-Q22R

KRAS-Q61E

KRAS-Q61H

KRAS-Q61K

KRAS-Q61L

KRAS-Q61R

KRAS-R149G

KRAS-S65N

KRAS-T58I

KRAS-T74P

KRAS-V14I

KRAS-Y32S

KRAS-Y40A

KRAS-Y64A

KRAS-Y64D

KRAS-Y71H











MET基因






MET-Amplification

MET-D1010

MET-Exon 14 deletion

MET-Exon 14 splice mutation









NF1基因






NF1-Deletion

NF1-E1356G

NF1-G629R

NF1-K1423E

NF1-K1436Q

NF1-L1301R

NF1-L90R

NF1-R1204G

NF1-R1204W

NF1-R1276P

NF1-R1276Q

NF1-R1391G

NF1-R1391S

NF1-R2429*

NF1-S1463F

NF1-T1324N

NF1-Truncating Mutations

NF1-V1398D

NF1-Y489C












NRAS基因






NRAS-A146P

NRAS-A146T

NRAS-A146V

NRAS-A59G

NRAS-A59T

NRAS-G12A

NRAS-G12C

NRAS-G12D

NRAS-G12FNRAS-G12R

NRAS-G12S

NRAS-G12V

NRAS-G12W

NRAS-G13C

NRAS-G13D

NRAS-G13E

NRAS-G13R

NRAS-G13V

NRAS-G60E

NRAS-K117D

NRAS-Q61E

NRAS-Q61H

NRAS-Q61K

NRAS-Q61L

NRAS-Q61R

NRAS-T50I

NRAS-T58I

NRAS-Wildtype










NTRK基因






NTRK1-G595R

NTRK3-F617L

NTRK3-G623R

NTRK3-G696A









PALB2基因






PALB2-L1143P

PALB2-L35P

PALB2-L939W

PALB2-T1030I

PALB2-Truncating Mutations

PALB2-Y28C







PDGFRA基因






PDGFRA-311_848del

PDGFRA-311_848ins

PDGFRA-A633T

PDGFRA-C450_K451insMIEWMI

PDGFRA-C456_N468del

PDGFRA-C456_R481del

PDGFRA-D568N

PDGFRA-D842_H845del

PDGFRA-D842_H845insV

PDGFRA-D842_I843delinsIM

PDGFRA-D842_M844del

PDGFRA-D842I

PDGFRA-D842V

PDGFRA-D842Y

PDGFRA-D846Y

PDGFRA-E311_K312del

PDGFRA-Exon 18 in-frame deletions

PDGFRA-Exon 18 in-frame insertions

PDGFRA-Exon 18 missense mutations

PDGFRA-G853D

PDGFRA-H650Q

DGFRA-H845_N848delinsP

PDGFRA-H845Y

PDGFRA-I843_D846del

PDGFRA-I843del

PDGFRA-N659K

PDGFRA-N659R

PDGFRA-N659S

PDGFRA-N848K

PDGFRA-P577S

PDGFRA-Q579R

PDGFRA-R560_V561insER

PDGFRA-R748G

PDGFRA-R841K

PDGFRA-S566_E571delinsR

PDGFRA-S584L

PDGFRA-T674I

PDGFRA-V469A

PDGFRA-V536E

PDGFRA-V544_L545insAVLVLLVIVIISLI

PDGFRA-V561_I562insER

PDGFRA-V561A

PDGFRA-V561D

PDGFRA-V658A

PDGFRA-W559_R560del

PDGFRA-Y288C

PDGFRA-Y375_K455del

PDGFRA-Y555C

PDGFRA-Y849C

PDGFRA-Y849S











PIK3CA基因






PIK3CA-A1066V

PIK3CA-C378R

PIK3CA-C420R

PIK3CA-C604R

PIK3CA-C901F

PIK3CA-D1029Y

PIK3CA-D350G

PIK3CA-D350N

PIK3CA-D549N

PIK3CA-D939G

PIK3CA-E103_G106delinsD

PIK3CA-E103_P104delEP

PIK3CA-E1037K

PIK3CA-E109_I112delinsD

PIK3CA-E110del

PIK3CA-E110K

PIK3CA-E218K

PIK3CA-E365K

PIK3CA-E39K

PIK3CA-E453A

PIK3CA-E453K

PIK3CA-E453Q

PIK3CA-E542K

PIK3CA-E542Q

PIK3CA-E542V

PIK3CA-E545A

PIK3CA-E545D

PIK3CA-E545G

PIK3CA-E545K

PIK3CA-E545Q

PIK3CA-E579K

PIK3CA-E600K

PIK3CA-E78K

PIK3CA-E970K

PIK3CA-G1007R

PIK3CA-G1049R

PIK3CA-G106_R108del

PIK3CA-G106_R108delGNR

PIK3CA-G106D

PIK3CA-G106R

PIK3CA-G106V

PIK3CA-G118D

PIK3CA-G364R

PIK3CA-G451R

PIK3CA-G914R

PIK3CA-H1047L

PIK3CA-H1047R

PIK3CA-H1047Y

PIK3CA-H450_P458del

PIK3CA-K111del

PIK3CA-K111E

PIK3CA-K111N

PIK3CA-M1004I

PIK3CA-M1043I

PIK3CA-M1043L

PIK3CA-M1043V

PIK3CA-N1044K

PIK3CA-N1068Kfs*5

PIK3CA-N345I

PIK3CA-N345K

PIK3CA-N345T

PIK3CA-P104L

PIK3CA-P124L

PIK3CA-P366R

PIK3CA-P447_L455del

PIK3CA-P449_L455del

PIK3CA-P449_L455delPHGLEDL

PIK3CA-P449T

PIK3CA-P471L

PIK3CA-P487Q

PIK3CA-P539R

PIK3CA-Q546E

PIK3CA-Q546K

PIK3CA-Q546L

PIK3CA-Q546P

PIK3CA-Q546R

PIK3CA-R108H

PIK3CA-R108L

PIK3CA-R38C

PIK3CA-R38H

PIK3CA-R88Q

PIK3CA-R93P

PIK3CA-R93Q

PIK3CA-R93W

PIK3CA-S629C

PIK3CA-T1025A

PIK3CA-T1025N

PIK3CA-T1025S

PIK3CA-V105_R108delVGNR

PIK3CA-V344A

PIK3CA-V344G

PIK3CA-V344M

PIK3CA-V638A

PIK3CA-Y1021H









RAD51B基因






RAD51B-Deletion

RAD51B-R47*

RAD51B-S207L

RAD51B-Truncating Mutations









RAD51C基因






RAD51C-D159N

RAD51C-H192delinsGG

RAD51C-L138F

RAD51C-R193L

RAD51C-R193W

RAD51C-R258H

RAD51C-Truncating Mutations












RAD51D基因

RAD51D-S257delinsKRAD51D-Truncating Mutations








RAD54L基因

RAD54L-G325R









RET基因






RET-A883F

RET-A883T

RET-A919V

RET-C609Y

RET-C611Y

RET-C618R

RET-C620R

RET-C630R

RET-C634R

RET-C634S

RET-C634W

RET-C634Y

RET-D631_L633delinsE

RET-D631Y

RET-E505_G506del

RET-E511K

RET-E632_L633del

RET-E768D

RET-I852M

RET-K603Q

RET-L633_C634dup

RET-L790F

RET-M848T

RET-M918T

RET-M918V

RET-R833C

RET-R886W

RET-S649L

RET-S891A

RET-S904F

RET-V648I

RET-V804L

RET-V804M

RET-Y791F

RET-Y806C








SMARCB1基因

SMARCB1-Deletion









TSC1基因






TSC1-Deletion

TSC1-F158C

TSC1-F216A

TSC1-H105R

TSC1-H206D

TSC1-H68R

TSC1-L117P

TSC1-L180P

TSC1-L191H

TSC1-M224R

TSC1-N198_F199delinsI

TSC1-S35Q

TSC1-Truncating Mutations

TSC1-V128del











TSC2基因






TSC2-A328P

TSC2-A614D

SC2-A889P

TSC2-C696Y

TSC2-Deletion

TSC2-E1552del

TSC2-E75G

TSC2-F615S

TSC2-G1567D

TSC2-G1596V

TSC2-H1620R

TSC2-H597Y

TSC2-I427M

TSC2-L146R

TSC2-L1584R

TSC2-L1750Afs25

TSC2-L410R

TSC2-L448P

TSC2-L493P

TSC2-L493V

TSC2-L792R

TSC2-L826P

TSC2-L830R

TSC2-L844R

TSC2-P1675L

TSC2-P1709L

TSC2-Q1503P

TSC2-Q1554H

TSC2-R1200W

TSC2-R462C

TSC2-R505Q

TSC2-R611Q

TSC2-R611W

TSC2-R905G

TSC2-R905Q

TSC2-R905W

TSC2-S1036P

TSC2-S1498N

TSC2-S1653F

TSC2-S1653P

TSC2-T1203K

TSC2-T1623I

TSC2-Truncating Mutations

TSC2-V1673D

TSC2-V1673F

TSC2-V241del

TSC2-V299G

TSC2-V705E

TSC2-V705M

TSC2-V769E

TSC2-W1610G

TSC2-Y1571N

TSC2-Y598C



  • 客户成果

      客户成果

  • 案例分析

      案例分析

    • 案例:EGFR-V769_D770insASV突变基因标准品细胞株

      /ueditor/image/2022/05/09/c406b4ccc3977be226ee3c6b3062675e.png

  • 参考文献

      参考文献

友情链接: 国家实验细胞资源共享平台 ATCC Zhang Lab 海星生物商城
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