OncoFOCUS Panel v3.0 for the MassARRAY System. List of Mutations Detectable with the OncoFOCUS Panel. HGVS Nomenclature.
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1 List of Mutations Detectable with the OncoFOCUS Panel c.323g>a p.r108k c.787a>c p.t263p c.866c>t p.a289v c.866c>a p.a289d c.1793g>t p.g598v c.2126a>t p.e709v c.2125_2127gaa>cat p.e709h c.2125g>a p.e709k c.2126a>g p.e709g c.2125g>c p.e709q c.2126a>c p.e709a c.2155g>a p.g719s 6252 c.2156g>a p.g719d c.2155g>t p.g719c 6253 c.2156g>c p.g719a 6239 c.2233_2247del15 p.k745_e749delkelre c.2237_2255>t p.e746_s752>v c.2237_2250>tccct p.e746_a750>vp c.2235_2246del(12) GGAATTAAGAGA p.e746_e749del NA c.2235_2248>aattc p.e746_a750>ip c.2237_2252>t p.e746_t751>v c.2238_2249>tcc p.e746_a750>dp c.2237_2238aa>tt p.e746v c.2237_2258>ttca p.e746_p753>vq c.2236_2251>t p.e746_t751>s Agena Bioscience, Inc Eastgate Mall San Diego, CA Phone: Order Desk: Order Desk Fax: orderdesk@agenabio.com Web: agenabioscience.com US: GENOME EU: AP: CN: R1.0
2 c.2235_2251>ag p.e746_t751>a c.2235_2252del18 p.e746_t751delelreat c.2236_2248>caac p.e746_a750>qp c.2237_2257>tct p.e746_p753>vs c.2235_2255>aat p.e746_s752>i c.2237_2251>tgg p.e746_t751>va c.2238_2255del18 p.e746_s752>d 6220 c.2236_2256del21 p.e746_s752delelreats c.2236g>a p.e746k c.2236_2253>cta p.e746_t751>l c.2235_2252>aat p.e746_t751>i c.2235_2246del12 p.e746_e749delelre c.2235_2251>aattc p.e746_t751>ip c.2237_2251>ttc p.e746_t751>vp c.2236_2253>caa p.e746_t751>q c.2237_2254del18 p.e746_s752>a c.2236_2259>atctcg p.e746_p753>is c.2235_2249del15 p.e746_a750delelrea 6223 c.2236_2248>agac p.e746_a750>rp c.2236_2257>ctct p.e746_p753>ls c.2239_2258>ca p.l747_p753>q c.2239_2253>gct p.l747_t751>a c.2240_2261>cgac p.l747_k754>st c.2238_2251>gc p.l747_t751>p c.2240_2254del15/c.2239_2253del15 p.l747_t751dellreat 12369/6254 c.2238_2255>gcaaca p.l747_s752>qh c.2239_2247del(9)ttaagagaa p.l747_e749del 6218 c.2240t>c p.l747s c.2240_2257del18 p.l747_p753>s
3 c.2238_2248>gc p.l747_a750>p c.2238_2252>gca p.l747_t751>q c.2240_2251del12 p.l747_t751>s 6210 c.2239_2262del24 p.l747_k754dellreatspk c.2239_2240tt>cc p.l747p c.2238_2256>gcaa p.l747_s752>q c.2239_2247delttaagagaa p.l747_e749dellre 6218 c.2239_2253>ccaacg p.l747_t751>pt c.2239_2256del18 p.l747_s752dellreats 6255 c.2239_2264>gccaa p.l747_a755>an c.2251_2277>tct p.t751_i759>s c.2252c>t p.t751i c.2252_2276>a p.t751_i759>n c.2252_2275del24 p.t751_e758deltspkanke c.2252_2277>gagaagcg p.t751_i759>rea c.2254t>c p.s752p c.2253_2276del24/c.2254_2277del24 p.s752_i759delspkankei 13556/6256 c.2255c>a p.s752y c.2257_2277del21 p.p753_i759del c.2257c>t p.p753s 6268 c.2258c>a p.p753q NA c.2257_2277del21 p.p753_i759delpkankei c.2276t>a p.i759n c.2281g>a p.d761n c.2281g>t p.d761y c.2298_2299insgccata p.m766_a767insai c.2302_2303inscgctggcca p.a767_s768instla c.2303g>a p.s768n c.2303g>t p.s768i
4 c.2303g>c p.s768t c.2303_2305gcg>tct p.s768_v769>il c.2308_2309insgcagcgtgg p.v769_d770insgsv c.2307_2308instgcgtg p.v769_d770inscv c.2308_2309insgggtcgtgg p.v769_d770insgvv c.2309_2310ac>ccagcgtggat p.v769_d770insasv c.2308_2309insgtt p.d770>gy c.2311_2312insgcgtggaca p.d770_n771inssvd c.2310_2311insggc p.d770_n771insg c.2308_2315gacaaccc> CCAGCGTGGATAACCG p.d770_p772>asvdnr NA c.2310_2311insgggtta p.d770_n771insgl c.2310_2311insgcaccgtgg p.d770_n771insapw c.2310_2311insgggttt p.d770_n771insgf c.2308g>a p.d770n c.2309_2312acaa>ctggtgg p.d770_n771>agg c.2311_2312ins(12)tggccaccccca p.d770_n771insmatp (5 Detection Only) c.2310_2311insggggac p.d770_n771insgd c.2311_2312aa>gggtt p.n771>gf c.2311_2312insaccggc p.n771_p772insrh c.2312_2315accc>gcgtggacaaccg p.n771_p772>svdnr c.2311_2312insgtc p.n771>sh c.2311_2312inscac p.n771>th c.2311a>ggtt p.n771>gy c.2319_2320inscac p.h773_v774insh c.2319_2320insaacccccac/ c.2310_2311insaacccccac p.h773_v774insnph 12381/48920 c.2319_2320inscag p.h773_v774insq
5 c.2319_2320insccccac p.h773_v774insph c.2320g>a p.v774m c.2316_2317inscacgtg p.v774_c775inshv c.2320g>t p.v774l c.2326c>t p.r776c 6226 c.2327g>a p.r776h c.2369c>t p.t790m 6240 c.2560a>g p.t854a c.2572c>a p.l858m c.2573t>g/c.2573_2574tg>ga/ c.2573_2574tg>gt/c.2572_2573ct>ag p.l858r 6224/133630/ 12429/13553 c.2572_2573ct>aa p.l858k c.2582t>a p.l861q 6212 c.2582t>g p.l861r c.2125_2129delgaaac p.e709fs* c.2252_2275>g p.t751fs* c.2317_2317c>aacccct p.h773>npy (3 Detection Only) NA BRAF NM_ c.1405_1406gg>tc p.g469s 458 c.1406g>c p.g469a 460 c.1406g>a p.g469e 461 c.1405g>c p.g469r 455 c.1406g>t p.g469v 459 c.1781a>g p.d594g 467 c.1781a>t p.d594v 466 c.1789_1790ct>tc p.l597s 1126 c.1790t>a p.l597q 1125 c.1789c>g p.l597v 470 c.1790t>g p.l597r 471 5
6 BRAF NM_ c.1797_1798insaca p.t599_v600inst c.1797_1797a>tactacg p.t599_v600instt 1128 c.1799t>g p.v600g 6137 c.1798_1799gt>aa p.v600k 473 c.1798_1799gt>ag p.v600r 474 c.1798g>c/c.1798g>t p.v600l /33808 c.1798g>a p.v600m 1130 c.1799t>a/c.1799_1800tg>aa p.v600e (raremutation=c.1799_1800tg>aa) 476/475 KRAS NM_ c.1798_1798g>taca p.v600>ym c.1799_1800tg>at p.v600d 477 c.1801a>g p.k601e 478 c.1801_1803delaaa p.k601del c.1803a>t/c.1803a>c p.k601n 6265/1132 c.34_36ggt>tgg p.g12w c.34_36ggt>tgc p.g12c 513 c.35_36gt>aa p.g12e 519 c.34_35gg>ta p.g12y c.35g>a p.g12d 521 c.34_35gg>tt p.g12f 512 c34-36ggt>aga/c.34g>c p.g12r /518 c.34_35gg>aa p.g12n c.36t>a p.g12g 524 c.34g>a p.g12s 517 c.35g>c p.g12a 522 c34-35gg>ac p.g12t NA c.35g>t p.g12v 520 6
7 KRAS NM_ c.34_35gg>at p.g12i c34-35gg>cc p.g12p NA c.36_37insgcg p.g12_g13insa c.34_35gg>ct p.g12l 514 c.38g>c p.g13a 533 c.38g>a p.g13d 532 c.37g>c p.g13r 529 c.37_38gg>aa p.g13n c.37g>a p.g13s 528 c.38g>t p.g13v 534 c.37_38gg>at p.g13i 525 c.39_40insggc p.g13_v14insg c.36_37tg>at/c.37g>t p.g13c 87281/527 c.175g>a p.a59t 546 c.181c>a p.q61k 549 c.181c>g p.q61e 550 c.182a>g p.q61r 552 c.183a>c p.q61h 554 c.182a>c p.q61p 551 c.182a>t p.q61l 553 c.437c>g p.a146g N/A c.436g>a p.a146t c.437c>t p.a146v c.436g>c p.a146p c.176c>g p.a59g c.176c>a p.a59e 547 c.349a>g p.k117e N/A c.351a>t p.k117n c.350a>g p.k117r
8 NRAS NM_ c.34g>t p.g12c 562 c.34_35gg>ta p.g12y 560 c.34_35gg>aa p.g12n c.35g>c p.g12a 565 c.35_36gt>ag p.g12e c35g>t p.g12v 566 c.34_35gg>cc p.g12p 559 c.38g>c p.g13a 575 c.38g>a p.g13d 573 c.37g>c p.g13r 569 c.38g>t/c.38_39gt>tc p.g13v 574/572 c.37_38gg>aa p.g13n c.37_38gg>ta p.g13y 568 c.181c>a p.q61k 580 c.182_183aa>gg p.q61r c.183a>c p.q61h 586 c.182a>c p.q61p 582 c.183a>g p.q61q 587 c.181c>g p.q61e 581 c.182_183aa>tg p.q61l c.176c>g p.a59g c.175g>a p.a59t 578 c.349a>g p.k117e N/A c.351g>t/c p.k117n N/A c.350a>g p.k117r N/A c.436g>a p.a146t c.436g>c p.a146p N/A c.436g>t p.a146s N/A c.437c>t p.a146v c.437c>g p.a146g N/A 8
9 KIT NM_ c.1669t>c p.w557r 1219 c.1669t>a p.v559a 1216 c.1676t>c p.v559d 1255 c.1676t>a p.l576p 1252 c.1727t>c p.k642e 1290 c.1924a>g p.d816h 1304 c.2446g>c p.w557g 1311 c.1676t>g p.v559g 1253 c.1924a>c p.k642q c.2446g>t p.d816y
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