| 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%
案例2：Small Insertion
EGFR c.2310_2311insGGT p.D770_N771insG Mutation AF：100%
案例3：Deletion
EGFR c.2239_2256del18 p.L747_S752del Mutation AF：100%
| 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
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-S257delinsK | RAD51D-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
参考文献
参考文献
