| 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 |
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ABL1-E255K | ABL1-E255V | ABL1-F317C | ABL1-F317I | ABL1-F359C | ABL1-F359I |
ABL1-F359V | ABL1-G250E | ABL1-T315A | ABL1-T315I | ABL1-V299L | ABL1-Y253H |
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ALK基因 |
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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 |
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ATM基因 |
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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 |
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BARD1基因 |
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BARD1-C53W | BARD1-C71Y | BARD1-C83R | BARD1-Deletion | BARD1-L44R | BARD1-R99E |
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BRAF基因 |
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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 |
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BRCA1基因 |
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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 |
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BRCA2基因 |
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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 |
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BRIP1基因 |
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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 |
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BTK基因 | BTK-C481S |
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CDK12基因 |
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CDK12-D877N | CDK12-Deletion | CDK12-G909R | CDK12-K765R | CDK12-L996F | CDK12-R882L |
CDK12-Truncating Mutations | CDK12-W719* | CDK12-Y901C |
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CHEK基因 |
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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 |
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EGFR基因 |
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EGFR-Exon 19 deletion | EGFR-Exon 20 insertion | EGFR-G719 | EGFR-L858R | EGFR-L861Q | EGFR-S768I |
EGFR-T790M |
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ERBB2基因 |
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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 |
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EZH2基因 |
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EZH2-A687V | EZH2-A692V | EZH2-C576W | EZH2-Overexpression | EZH2-R690C | EZH2-Truncating Mutations |
EZH2-Y646C | EZH2-Y646FEZH2-Y646H | EZH2-Y646N | EZH2-Y646S | EZH2-Y731D |
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FANCL基因 | FANCL-Truncating Mutations |
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FGFR3基因 |
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FGFR3-G370C | FGFR3-R248C | FGFR3-S249C | FGFR3-Y373C |
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FLT3基因 |
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3-D835 | FLT3-I836 | FLT3-Internal tandem duplication | FLT
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IDH1基因 |
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IDH1-G97D | IDH1-R100A | IDH1-R132 | IDH1-R132C | IDH1-R132G | IDH1-R132H |
IDH1-R132L | IDH1-R132Q | IDH1-R132S | IDH1-Y139D |
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IDH2基因 |
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IDH2-R140Q | IDH2-R172G | IDH2-R172K | IDH2-R172M | IDH2-R172S |
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KIT基因 |
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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 |
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KRAS基因 |
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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 |
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MET基因 |
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MET-Amplification | MET-D1010 | MET-Exon 14 deletion | MET-Exon 14 splice mutation |
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NF1基因 |
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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 |
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NRAS基因 |
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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 |
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NTRK基因 |
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NTRK1-G595R | NTRK3-F617L | NTRK3-G623R | NTRK3-G696A |
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PALB2基因 |
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PALB2-L1143P | PALB2-L35P | PALB2-L939W | PALB2-T1030I | PALB2-Truncating Mutations | PALB2-Y28C |
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PDGFRA基因 |
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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 |
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PIK3CA基因 |
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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 |
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RAD51B基因 |
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RAD51B-Deletion | RAD51B-R47* | RAD51B-S207L | RAD51B-Truncating Mutations |
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RAD51C基因 |
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RAD51C-D159N | RAD51C-H192delinsGG | RAD51C-L138F | RAD51C-R193L | RAD51C-R193W | RAD51C-R258H |
RAD51C-Truncating Mutations |
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RAD51D基因 | RAD51D-S257delinsK | RAD51D-Truncating Mutations |
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RAD54L基因 | RAD54L-G325R |
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RET基因 |
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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 |
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SMARCB1基因 | SMARCB1-Deletion |
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TSC1基因 |
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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 |
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TSC2基因 |
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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 |
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