PMID: 32264863

Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

BMC cancer
Steeghs, Elisabeth M P EMP, Kroeze, Leonie I LI, Tops, Bastiaan B J BBJ, van Kempen, Leon C LC, Ter Elst, Arja A, Kastner-van Raaij, Annemiek W M AWM, Hendriks-Cornelissen, Sandra J B SJB, Hermsen, Mandy J W MJW, Jansen, Erik A M EAM, Nederlof, Petra M PM, Schuuring, Ed E, Ligtenberg, Marjolijn J L MJL, Eijkelenboom, Astrid A
2020-04-07

259 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-7577524-T-C TP53 c.757A>G p.T253A Missense 7/11 -
7-55242484-ATCT-A EGFR c.2254_2256delTCT p.S752del InFrameDeletion 19/28 -
17-7577577-T-C TP53 c.704A>G p.N235S Missense 7/11 -
17-7578527-A-G TP53 c.403T>C p.C135R Missense 5/11 -
17-7578515-T-C TP53 c.415A>G p.K139E Missense 5/11 -
1-243859016-C-T AKT3 c.49G>A p.E17K Missense 3/14 -
17-7577079-C-A TP53 c.859G>T p.E287* Nonsense 8/11 -
7-140453139-G-A BRAF c.1796C>T p.T599I Missense 15/18 -
3-12645693-G-A RAF1 c.776C>T p.S259F Missense 7/17 -
7-55242487-C-T EGFR c.2257C>T p.P753S Missense 19/28 -
17-7578274-T-C TP53 c.575A>G p.Q192R Missense 6/11 -
7-55242469-TTAAGAGAAG-C EGFR c.2239_2248delinsC p.L747_A750delinsP MultiAAMissense 19/28 -
10-89711916-T-A PTEN c.534T>A p.Y178* Nonsense 6/9 -
17-7578460-A-T TP53 c.470T>A p.V157D Missense 5/11 -
10-89717642-A-T PTEN c.667A>T p.K223* Nonsense 7/9 -
17-7578518-C-G TP53 c.412G>C p.A138P Missense 5/11 -
17-7577545-T-G TP53 c.736A>C p.M246L Missense 7/11 -
4-55593613-T-A KIT c.1679T>A p.V560D Missense 11/21 -
17-7578265-A-T TP53 c.584T>A p.I195N Missense 6/11 -
17-7573982-C-A TP53 c.1045G>T p.E349* Nonsense 10/11 -
17-7579395-G-A TP53 c.292C>T p.P98S Missense 4/11 -
4-55593608-GGTT-G KIT c.1679_1681delTTG p.V560del InFrameDeletion 11/21 -
4-55593604-GGAA-G KIT c.1672_1674delAAG p.K558del InFrameDeletion 11/21 -
10-89720852-C-T PTEN c.1003C>T p.R335* Nonsense 8/9 -
12-25398266-G-T KRAS c.53C>A p.A18D Missense 2/5 -
17-7574012-C-A TP53 c.1015G>T p.E339* Nonsense 10/11 -
17-7578504-CAGG-C TP53 c.424_426delCCT p.P142del InFrameDeletion 5/11 -
17-7577118-C-G TP53 c.820G>C p.V274L Missense 8/11 -
17-7574012-C-T TP53 c.1015G>A p.E339K Missense 10/11 -
17-7578474-C-CG TP53 c.455_455dup p.P153Afs*28 Frameshift 5/11 -
17-7578463-CGGGTGCCGGGCGG-C TP53 c.454_466del13 p.P152Afs*14 Frameshift 5/11 -
7-116411998-A-G MET c.2983A>G p.M995V Missense 14/21 -
17-7577535-C-T TP53 c.746G>A p.R249K Missense 7/11 -
17-7577498-C-T TP53 c.782+1G>A - IntronicSNV - 7/10
17-7577548-C-G TP53 c.733G>C p.G245R Missense 7/11 -
7-140453132-ATTT-A BRAF c.1801_1803delAAA p.K601del InFrameDeletion 15/18 -
17-7578236-A-G TP53 c.613T>C p.Y205H Missense 6/11 -
17-7579373-C-A TP53 c.314G>T p.G105V Missense 4/11 -
7-116340270-G-A MET c.1132G>A p.V378I Missense 2/21 -
4-55593659-ACTT-A KIT c.1727_1729delTTC p.L576del InFrameDeletion 11/21 -
17-7579329-T-C TP53 c.358A>G p.K120E Missense 4/11 -
17-7577514-GTGA-G TP53 c.764_766delTCA p.I255del InFrameDeletion 7/11 -
17-7577580-T-G TP53 c.701A>C p.Y234S Missense 7/11 -
3-178921548-G-A PIK3CA c.1030G>A p.V344M Missense 5/21 -
17-7577568-C-G TP53 c.713G>C p.C238S Missense 7/11 -
17-7578371-C-T TP53 c.559G>A p.G187S Missense 5/11 -
17-7578542-G-A TP53 c.388C>T p.L130F Missense 5/11 -
17-7578457-C-G TP53 c.473G>C p.R158P Missense 5/11 -
3-178936095-A-T PIK3CA c.1637A>T p.Q546L Missense 10/21 -
3-178936096-G-C PIK3CA c.1638G>C p.Q546H Missense 10/21 -
7-55242469-ATTAAGAGAAGCAACATCT-A EGFR c.2239_2256del18 p.L747_S752del InFrameDeletion 19/28 -
15-66729093-CTGGAGA-C MAP2K1 c.303_308delGGAGAT p.E102_I103del InFrameDeletion 3/11 -
17-7578177-C-T TP53 c.672G>A p.E224= Synonymous 6/11 -
17-7579377-G-A TP53 c.310C>T p.Q104* Nonsense 4/11 -
17-7577093-C-G TP53 c.845G>C p.R282P Missense 8/11 -
4-55144148-C-G PDGFRA c.1977C>G p.N659K Missense 14/23 -
1-11184573-G-A MTOR c.6644C>T p.S2215F Missense 47/58 -
3-178921552-A-T PIK3CA c.1034A>T p.N345I Missense 5/21 -
10-89692905-G-C PTEN c.389G>C p.R130P Missense 5/9 -
11-534285-C-A HRAS c.38G>T p.G13V Missense 2/6 -
17-7577508-T-G TP53 c.773A>C p.E258A Missense 7/11 -
3-178952138-C-T PIK3CA c.3193C>T p.H1065Y Missense 21/21 -
17-7579360-G-GA TP53 c.326_326dup p.R110Pfs*39 Frameshift 4/11 -
17-7578176-C-A TP53 c.672+1G>T - IntronicSNV - 6/10
17-7576852-C-A TP53 c.993+1G>T - IntronicSNV - 9/10
15-90631917-T-TC IDH2 c.435_435dupG p.T146Dfs*126 Frameshift 4/11 -
17-7578370-C-A TP53 c.559+1G>T - IntronicSNV - 5/10
17-7574002-C-G TP53 c.1025G>C p.R342P Missense 10/11 -
17-7578224-T-A TP53 c.625A>T p.R209* Nonsense 6/11 -
17-7578467-T-G TP53 c.463A>C p.T155P Missense 5/11 -
10-89692919-A-G PTEN c.403A>G p.I135V Missense 5/9 -
17-7577544-A-G TP53 c.737T>C p.M246T Missense 7/11 -
15-66727443-T-G MAP2K1 c.159T>G p.F53L Missense 2/11 -
17-7578458-G-C TP53 c.472C>G p.R158G Missense 5/11 -
17-7578449-C-A TP53 c.481G>T p.A161S Missense 5/11 -
17-7577106-G-T TP53 c.832C>A p.P278T Missense 8/11 -
3-178952018-A-G PIK3CA c.3073A>G p.T1025A Missense 21/21 -
17-7579494-T-A TP53 c.193A>T p.R65* Nonsense 4/11 -
17-7578440-T-C TP53 c.490A>G p.K164E Missense 5/11 -
17-7578402-G-C TP53 c.528C>G p.C176W Missense 5/11 -
17-7577569-A-G TP53 c.712T>C p.C238R Missense 7/11 -
17-7577142-C-A TP53 c.796G>T p.G266* Nonsense 8/11 -
17-7577081-T-C TP53 c.857A>G p.E286G Missense 8/11 -
12-25380282-G-T KRAS c.176C>A p.A59E Missense 3/5 -
17-7578263-G-C TP53 c.586C>G p.R196G Missense 6/11 -
12-25398279-C-A KRAS c.40G>T p.V14L Missense 2/5 -
2-29443622-T-G ALK c.3595A>C p.M1199L Missense 23/29 -
7-140481408-G-A BRAF c.1400C>T p.S467L Missense 11/18 -
7-140477854-A-C BRAF c.1454T>G p.L485W Missense 12/18 -
4-55593600-CAGTGGA-C KIT c.1669_1674delTGGAAG p.W557_K558del InFrameDeletion 11/21 -
17-7577077-TCTC-T TP53 c.859_861delGAG p.E287del InFrameDeletion 8/11 -
17-7578554-A-C TP53 c.376T>G p.Y126D Missense 5/11 -
17-7574021-C-A TP53 c.1006G>T p.E336* Nonsense 10/11 -
17-7579485-C-A TP53 c.202G>T p.E68* Nonsense 4/11 -
4-55593606-GAAGGTTGTT-G KIT c.1672_1680delAAGGTTGTT p.K558_V560del InFrameDeletion 11/21 -
4-55593666-TATG-T KIT c.1735_1737delGAT p.D579del InFrameDeletion 11/21 -
17-37880997-G-GTGT ERBB2 c.2326_2327insTGT p.G776delinsVC MultiAAMissense 20/27 -
10-89711875-G-T PTEN c.493G>T p.G165* Nonsense 6/9 -
10-89720808-T-C PTEN c.959T>C p.L320S Missense 8/9 -
17-7577566-T-TA TP53 c.714dupT p.N239* Nonsense 7/11 -
10-89717699-G-T PTEN c.724G>T p.E242* Nonsense 7/9 -
17-7578530-A-C TP53 c.400T>G p.F134V Missense 5/11 -
19-3118954-G-A GNA11 c.638G>A p.R213Q Missense 5/7 -
3-12645688-G-A RAF1 c.781C>T p.P261S Missense 7/17 -
17-7578541-AG-A TP53 c.388delC p.L130Sfs*40 Frameshift 5/11 -
10-89720798-GTACT-G PTEN c.955_958delACTT p.T319* Frameshift 8/9 -
17-7577100-TC-T TP53 c.837delG p.R280Efs*65 Frameshift 8/11 -
17-7579409-AG-A TP53 c.277delC p.L93Cfs*30 Frameshift 4/11 -
17-7578474-CG-C TP53 c.455delC p.P152Rfs*18 Frameshift 5/11 -
17-7577095-GTC-G TP53 c.841_842delGA p.D281Pfs*24 Frameshift 8/11 -
17-7578504-AG-A TP53 c.425delC p.P142Lfs*28 Frameshift 5/11 -
10-89720811-C-CA PTEN c.968dupA p.N323Kfs*2 Frameshift 8/9 -
10-89717769-TA-T PTEN c.800delA p.K267Rfs*9 Frameshift 7/9 -
17-7579314-T-C TP53 c.373A>G p.T125A Missense 4/11 -
17-7579320-TCA-T TP53 c.365_366delTG p.V122Dfs*26 Frameshift 4/11 -
17-7577140-TC-T TP53 c.797delG p.G266Dfs*79 Frameshift 8/11 -
10-89720855-T-TA PTEN c.1007_1007dupA p.Y336* Nonsense 8/9 -
2-29445412-C-T ALK c.3421G>A p.D1141N Missense 21/29 -
4-55593604-TGGAAGG-T KIT c.1670_1675delGGAAGG p.W557_V559delinsF MultiAAMissense 11/21 -
17-7573984-A-G TP53 c.1043T>C p.L348S Missense 10/11 -
17-37879583-C-G ERBB2 c.1958C>G p.S653C Missense 17/27 -
10-89692924-T-G PTEN c.408T>G p.C136W Missense 5/9 -
12-25380279-CCTG-C KRAS c.176_178delCAG p.A59del InFrameDeletion 3/5 -
17-7577545-TGCC-T TP53 c.733_735delGGC p.G245del InFrameDeletion 7/11 -
12-133250268-G-A POLE c.1252C>T p.P418S Missense 13/49 -
12-25378648-T-C KRAS c.350A>G p.K117R Missense 4/5 -
17-7578242-C-A TP53 c.607G>T p.V203L Missense 6/11 -
2-29443669-A-G ALK c.3548T>C p.I1183T Missense 23/29 -
4-55594233-T-G KIT c.1936T>G p.Y646D Missense 13/21 -
17-7578241-A-T TP53 c.608T>A p.V203E Missense 6/11 -
15-66729108-G-A MAP2K1 c.316G>A p.A106T Missense 3/11 -
15-66727464-GGGA-G MAP2K1 c.182_184delGAG p.G61del InFrameDeletion 2/11 -
1-11174416-G-A MTOR c.7259C>T p.A2420V Missense 53/58 -
17-7578210-TCG-CCA TP53 c.637_639delCGAinsTGG p.R213W Missense 6/11 -
7-140453131-ATTTCAC-A BRAF c.1798_1803delGTGAAA p.V600_K601del InFrameDeletion 15/18 -
7-140481417-C-G BRAF c.1391G>C p.G464A Missense 11/18 -
10-89711945-A-G PTEN c.563A>G p.Y188C Missense 6/9 -
4-55597561-G-A KIT c.2209G>A p.D737N Missense 15/21 -
4-55594261-A-C KIT c.1964A>C p.N655T Missense 13/21 -
10-89692830-G-T PTEN c.314G>T p.C105F Missense 5/9 -
7-55249134-C-T EGFR c.2432C>T p.S811F Missense 20/28 -
19-3118943-G-T GNA11 c.627G>T p.Q209H Missense 5/7 -
17-7573976-T-A TP53 c.1051A>T p.K351* Nonsense 10/11 -
X-47426121-C-A ARAF c.641C>A p.S214Y Missense 7/16 -
17-7574029-CG-C TP53 c.997delC p.R333Vfs*12 Frameshift 10/11 -
10-89693002-CA-C PTEN c.491delA p.K164Rfs*3 Frameshift 5/9 -
10-89692948-A-C PTEN c.432A>C p.K144N Missense 5/9 -
4-55593602-AGTGGAAGGTTGT-A KIT c.1668_1679del12 p.Q556_V560delinsH MultiAAMissense 11/21 -
17-7577530-TG-T TP53 c.750delC p.I251Sfs*94 Frameshift 7/11 -
15-66729098-GATC-G MAP2K1 c.308_310delTCA p.I103del InFrameDeletion 3/11 -
17-7576902-G-C TP53 c.944C>G p.S315C Missense 9/11 -
7-55259532-G-C EGFR c.2590G>C p.A864P Missense 21/28 -
17-7578369-A-C TP53 c.559+2T>G - IntronicSNV - 5/10
17-7579419-A-AG TP53 c.267_267dup p.S90Lfs*59 Frameshift 4/11 -
17-7578259-A-T TP53 c.590T>A p.V197E Missense 6/11 -
17-7578468-GC-G TP53 c.461delG p.G154Afs*16 Frameshift 5/11 -
17-7577549-GC-G TP53 c.731delG p.G244Afs*3 Frameshift 7/11 -
17-7577545-AT-A TP53 c.736delA p.M246* Frameshift 7/11 -
7-55242419-T-G EGFR c.2189T>G p.L730R Missense 19/28 -
4-1803565-G-A FGFR3 c.743G>A p.R248H Missense 7/18 -
17-7578490-AC-A TP53 c.439delG p.V147Lfs*23 Frameshift 5/11 -
17-37879655-G-A ERBB2 c.2030G>A p.R677Q Missense 17/27 -
10-89692981-T-TG PTEN c.469_469dupG p.E157Gfs*23 Frameshift 5/9 -
10-89712017-G-A PTEN c.634+1G>A - IntronicSNV - 6/8
12-133252403-G-A POLE c.1024C>T p.H342Y Missense 11/49 -
10-89693002-C-CA PTEN c.491_491dupA p.V166Sfs*14 SpliceDonorInsertion 5/9 -
10-89712015-C-CT PTEN c.633_634insT p.N212* SpliceDonorInsertion 6/9 -
17-7578274-TGA-T TP53 c.573_574delTC p.Q192Afs*16 Frameshift 6/11 -
17-37880993-GGCT-G ERBB2 c.2324_2326delCTG p.A775del InFrameDeletion 20/27 -
12-25380256-T-A KRAS c.202A>T p.R68W Missense 3/5 -
12-133236074-C-A POLE c.3082G>T p.E1028* Nonsense 26/49 -
1-162745588-G-A DDR2 c.2003G>A p.R668H Missense 15/18 -
17-7577103-CAGG-C TP53 c.832_834delCCT p.P278del InFrameDeletion 8/11 -
17-7579505-AT-A TP53 c.182delA p.D61Vfs*62 Frameshift 4/11 -
17-7578451-A-C TP53 c.479T>G p.M160R Missense 5/11 -
2-29436869-C-T ALK c.3724G>A p.E1242K Missense 24/29 -
19-40762911-C-T AKT2 c.97G>A p.G33S Missense 3/14 -
17-7578375-CGCT-C TP53 c.553_555delAGC p.S185del InFrameDeletion 5/11 -
10-89717611-TC-T PTEN c.638delC p.P213Lfs*8 Frameshift 7/9 -
17-7577594-ACAGTCAGAGC-A TP53 c.677_686delGCTCTGACTG p.G226Vfs*18 Frameshift 7/11 -
17-7577607-A-G TP53 c.674T>C p.V225A Missense 7/11 -
4-55593637-ATGTTTACATAGACCCAACACAACT-A KIT c.1705_1728del24 p.V569_L576del InFrameDeletion 11/21 -
17-7579316-C-CA TP53 c.370dupT p.C124Lfs*25 Frameshift 4/11 -
17-7578229-TC-T TP53 c.619delG p.D207Mfs*40 Frameshift 6/11 -
15-66727450-C-A MAP2K1 c.166C>A p.Q56K Missense 2/11 -
10-89717636-A-T PTEN c.661A>T p.K221* Nonsense 7/9 -
7-55242484-T-A EGFR c.2254T>A p.S752T Missense 19/28 -
17-7578505-AGGGCAGGTCTTGGCC-A TP53 c.411_425del15 p.A138_P142del InFrameDeletion 5/11 -
17-7579523-AG-A TP53 c.164delC p.T55Mfs*68 Frameshift 4/11 -
17-7576916-TG-T TP53 c.930delC p.N310Kfs*35 Frameshift 9/11 -
17-7577134-GTTCCGTCCCAGTAGA-G TP53 c.789_803del15 p.L264_N268del InFrameDeletion 8/11 -
17-7577132-CTGT-C TP53 c.803_805delACA p.N268del InFrameDeletion 8/11 -
17-7577583-TG-T TP53 c.697delC p.H233Tfs*14 Frameshift 7/11 -
4-55594233-T-A KIT c.1936T>A p.Y646N Missense 13/21 -
7-140477866-G-C BRAF c.1442C>G p.A481G Missense 12/18 -
10-89692989-T-G PTEN c.473T>G p.V158G Missense 5/9 -
4-55593672-TCAC-T KIT c.1738_1740delCAC p.H580del InFrameDeletion 11/21 -
1-162748449-C-A DDR2 c.2363C>A p.P788H Missense 17/18 -
4-55593653-CAACACAACTTCCTTATGATCA-C KIT c.1719_1739del21 p.T574_H580del InFrameDeletion 11/21 -
11-533832-CC-TT HRAS c.223_224delinsAA p.G75K Missense 3/6 -
17-7577095-GT-CTCCCTTA TP53 c.841_843delinsGTAAGGGAG p.D281delinsVRE MultiAAMissense 8/11 -
4-55594233-TAC-GAGGTACTTAGCCAT KIT c.1936_1938delinsGAGGTACTTAGCCAT p.Y646delinsEVLSH MultiAAMissense 13/21 -
4-55144077-A-G PDGFRA c.1906A>G p.S636G Missense 14/23 -
4-55599343-TGTGGTTAAA-T KIT c.2471_2479delTGGTTAAAG p.V824_K826del InFrameDeletion 17/21 -
4-55599350-TAAA-T KIT c.2476_2478delAAA p.K826del InFrameDeletion 17/21 -
10-89712015-C-CG PTEN c.633_634insG p.N212Efs*31 SpliceDonorInsertion 6/9 -
10-89712014-G-GC PTEN c.633dupC p.N212Qfs*31 SpliceDonorInsertion 6/9 -
10-89717609-G-GA PTEN c.635dupA p.N212Kfs*31 SpliceAcceptorInsertion 7/9 -
10-89712016-CAGTAAGTG-C PTEN c.634_634+7delAGTAAGTG - SpliceDonorDeletion 6/9 6/8
17-7577005-TCCTGCTTGCTTA-T TP53 c.919+2_919+13del12 - IntronicDeletion 8/11 8/10
17-7576850-T-A TP53 c.993+3A>T - IntronicSNV - 9/10
1-162741901-G-A DDR2 c.1592G>A p.G531E Missense 13/18 -
15-66774200-A-G MAP2K1 c.676A>G p.T226A Missense 6/11 -
1-162743331-C-A DDR2 c.1801C>A p.Q601K Missense 14/18 -
17-7577549-GCCCATGCAGGAACTGTTA-G TP53 c.714_731del18 p.N239_G244del InFrameDeletion 7/11 -
17-37880981-AGCATACGTGATG-A ERBB2 c.2313_2324del12 p.Y772_A775del InFrameDeletion 20/27 -
7-55249007-GT-AA EGFR c.2305_2306delinsAA p.V769K Missense 20/28 -
17-7578257-CC-AT TP53 c.591_592delinsAT p.E198* Missense 6/11 -
1-115256525-TTC-GTCAAG NRAS c.184_186delinsCTTGAC p.E62delinsLD MultiAAMissense 3/7 -
7-140453158-C-G BRAF c.1777G>C p.G593R Missense 15/18 -
15-66774119-A-T MAP2K1 c.595A>T p.N199Y Missense 6/11 -
4-55141123-G-C PDGFRA c.1769G>C p.R590T Missense 12/23 -
2-29443612-C-A ALK c.3605G>T p.G1202V Missense 23/29 -
17-7577102-CCAGGACAGGCACAAACACGCACCT-C TP53 c.812_835del24 p.E271_P278del InFrameDeletion 8/11 -
17-7579359-GGAAACCGTA-T TP53 c.319_328delinsA p.Y107_R110delinsS MultiAAMissense 4/11 -
10-89692781-CC-TT PTEN c.265_266delinsTT p.P89F Missense 5/9 -
17-7578448-GC-CTGAT TP53 c.481_483delinsATCAGC p.A161delinsIS MultiAAMissense 5/11 -
17-7578201-CAC-AAA TP53 c.646_648delinsTTT p.V216F Missense 6/11 -
10-89720834-A-T PTEN c.985A>T p.N329Y Missense 8/9 -
17-37879650-C-G ERBB2 c.2025C>G p.I675M Missense 17/27 -
1-243858999-C-T AKT3 c.66G>A p.W22* Nonsense 3/14 -
1-162748464-C-G DDR2 c.2378C>G p.S793* Nonsense 17/18 -
4-55141060-G-A PDGFRA c.1706G>A p.G569E Missense 12/23 -
3-178927987-T-G PIK3CA c.1265T>G p.L422W Missense 8/21 -
10-89717709-AGCC-A PTEN c.736_738delCCG p.P246del InFrameDeletion 7/9 -
19-40762946-G-A AKT2 c.62C>T p.T21I Missense 3/14 -
4-55144122-C-A PDGFRA c.1951C>A p.L651M Missense 14/23 -
15-66727452-AGAAGCAGAAGGTGGG-A MAP2K1 c.168_182del15 p.K57_G61del InFrameDeletion 2/11 -
10-89717704-CCCTCAG-C PTEN c.732_737delTCAGCC p.Q245_P246del InFrameDeletion 7/9 -
17-7578376-GCTATCTGAGCAGCGCTCATGGTGGGGGCAGCGCCTCACA-G TP53 c.516_554del39 p.V173_S185del InFrameDeletion 5/11 -
17-7578446-T-TG TP53 c.483_483dup p.I162Hfs*19 Frameshift 5/11 -
17-7578393-CAT-C TP53 c.536_537delAT p.H179Rfs*6 Frameshift 5/11 -
17-7578499-CTGCACAGGGCAGGTCTTGG-C TP53 c.413_431del19 p.A138Gfs*26 Frameshift 5/11 -
10-89720799-T-TA PTEN c.951_951dup p.L318Tfs*7 Frameshift 8/9 -
10-89692985-GA-G PTEN c.471delA p.V158* Frameshift 5/9 -
17-7577134-TG-T TP53 c.804delC p.N268Kfs*77 Frameshift 8/11 -
17-7576912-TGTTGTTGG-T TP53 c.926_933delCCAACAAC p.P309Hfs*25 Frameshift 9/11 -
17-7578374-TCGCTATC-T TP53 c.550_556delGATAGCG p.D184Mfs*61 Frameshift 5/11 -
17-7578442-GT-G TP53 c.488delA p.Y163Sfs*7 Frameshift 5/11 -
7-116414972-GACAAGTGCAGTATCCTC-G MET c.3066_3082del17 p.Q1023Dfs*9 Frameshift 15/21 -
17-7578481-G-GTT TP53 c.448_449insAA p.T150Kfs*21 Frameshift 5/11 -
17-7578450-C-CA TP53 c.479_479dup p.M160Ifs*21 Frameshift 5/11 -
4-55141106-CAAGATGGGA-C PDGFRA c.1752_1760delAAGATGGGA p.R585_E587del InFrameDeletion 12/23 -
4-55141111-GGGA-G PDGFRA c.1759_1761delGAG p.E587del InFrameDeletion 12/23 -
17-7578453-GGC-TACAAG TP53 c.475_477delinsCTTGTA p.A159delinsLV MultiAAMissense 5/11 -
17-7578212-CGA-C TP53 c.636_637delTC p.F212Lfs*3 Frameshift 6/11 -
17-7577075-ATTCTCTTCCT-A TP53 c.854_863delAGGAAGAGAA p.E285Vfs*57 Frameshift 8/11 -
17-7579332-GCTGTCCC-G TP53 c.349_355delGGGACAG p.G117Pfs*4 Frameshift 4/11 -
17-7578402-GCAGCGCCT-G TP53 c.520_527delAGGCGCTG p.R174Pfs*4 Frameshift 5/11 -