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cgi_biomarkers_per_variant.tsv
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cgi_biomarkers_per_variant.tsv
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Alteration Alteration type Assay type Association Biomarker Curator Drug Drug family Drug full name Drug status Evidence level Gene Metastatic Tumor Type Primary Tumor acronym Source Targeting gDNA cDNA individual_mutation info region strand transcript Primary Tumor type
ABL1:T315I MUT Resistant ABL1 (T315I) CRubio-Perez [Nilotinib,Dasatinib] [BCR-ABL inhibitor 2nd gen] BCR-ABL inhibitor 2nd gens (Nilotinib,Dasatinib,etc) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748283C>T c.944C>T ABL1:T315I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748283_133748284delCTinsTC,chr9:g.133748283_133748284delCTinsTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315I MUT Responsive ABL1 (T315I) DTamborero Axitinib VEGFR inhibitor Axitinib (VEGFR inhibitor) Pre-clinical ABL1 CANCER PMID:25686603 chr9:g.133748283C>T c.944C>T ABL1:T315I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748283_133748284delCTinsTC,chr9:g.133748283_133748284delCTinsTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Any cancer type
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748282A>G c.943A>G ABL1:T315A CSQN=Missense;reference_codon=ACT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133748282_133748284delACTinsGCA,chr9:g.133748282_133748284delACTinsGCC,chr9:g.133748282_133748284delACTinsGCG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>C c.949T>C ABL1:F317L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133748290C>A,chr9:g.133748290C>G;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsCTT,chr9:g.133748288_133748290delTTCinsCTG,chr9:g.133748288_133748290delTTCinsCTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>G c.949T>G ABL1:F317V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsGTA,chr9:g.133748288_133748290delTTCinsGTG,chr9:g.133748288_133748290delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>A c.949T>A ABL1:F317I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsATA,chr9:g.133748288_133748290delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748289T>G c.950T>G ABL1:F317C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748289_133748290delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133738357T>C c.757T>C ABL1:Y253H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr9:g.133738357_133738359delTACinsCAT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133738363G>A c.763G>A ABL1:E255K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133738363_133738365delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133738364A>T c.764A>T ABL1:E255V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738364_133738365delAGinsTA,chr9:g.133738364_133738365delAGinsTC,chr9:g.133738364_133738365delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>G c.1075T>G ABL1:F359V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsGTA,chr9:g.133748414_133748416delTTCinsGTG,chr9:g.133748414_133748416delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748415T>G c.1076T>G ABL1:F359C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748415_133748416delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,F317I,Y253H,E255K,E255V,F359V,F359C,F359I) RDientsmann Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>A c.1075T>A ABL1:F359I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsATA,chr9:g.133748414_133748416delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315I MUT Resistant ABL1 (T315I) CRubio-Perez Bosutinib BCR-ABL inhibitor 3rd gen Bosutinib (BCR-ABL inhibitor 3rd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748283C>T c.944C>T ABL1:T315I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748283_133748284delCTinsTC,chr9:g.133748283_133748284delCTinsTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L MUT Responsive ABL1 (V299L) DTamborero Cabozantinib Pan-kinase inhibitor Cabozantinib (Pan-kinase inhibitor) Pre-clinical ABL1 CANCER PMID:26924578 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Any cancer type
ABL1:V299L MUT Responsive ABL1 (V299L) DTamborero Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ABL1 CANCER PMID:26924578 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Any cancer type
ABL1:F359V,F359C,F359I,Y253H,E255K,E255V MUT Responsive ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>G c.1075T>G ABL1:F359V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsGTA,chr9:g.133748414_133748416delTTCinsGTG,chr9:g.133748414_133748416delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:F359V,F359C,F359I,Y253H,E255K,E255V MUT Responsive ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748415T>G c.1076T>G ABL1:F359C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748415_133748416delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:F359V,F359C,F359I,Y253H,E255K,E255V MUT Responsive ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>A c.1075T>A ABL1:F359I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsATA,chr9:g.133748414_133748416delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:F359V,F359C,F359I,Y253H,E255K,E255V MUT Responsive ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133738357T>C c.757T>C ABL1:Y253H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr9:g.133738357_133738359delTACinsCAT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:F359V,F359C,F359I,Y253H,E255K,E255V MUT Responsive ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133738363G>A c.763G>A ABL1:E255K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133738363_133738365delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:F359V,F359C,F359I,Y253H,E255K,E255V MUT Responsive ABL1 (F359V,F359C,F359I,Y253H,E255K,E255V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133738364A>T c.764A>T ABL1:E255V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738364_133738365delAGinsTA,chr9:g.133738364_133738365delAGinsTC,chr9:g.133738364_133738365delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L,T315A,F317L,F317V,F317I,F317C MUT Resistant ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L,T315A,F317L,F317V,F317I,F317C MUT Resistant ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748282A>G c.943A>G ABL1:T315A CSQN=Missense;reference_codon=ACT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133748282_133748284delACTinsGCA,chr9:g.133748282_133748284delACTinsGCC,chr9:g.133748282_133748284delACTinsGCG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L,T315A,F317L,F317V,F317I,F317C MUT Resistant ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>C c.949T>C ABL1:F317L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133748290C>A,chr9:g.133748290C>G;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsCTT,chr9:g.133748288_133748290delTTCinsCTG,chr9:g.133748288_133748290delTTCinsCTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L,T315A,F317L,F317V,F317I,F317C MUT Resistant ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>G c.949T>G ABL1:F317V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsGTA,chr9:g.133748288_133748290delTTCinsGTG,chr9:g.133748288_133748290delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L,T315A,F317L,F317V,F317I,F317C MUT Resistant ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>A c.949T>A ABL1:F317I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsATA,chr9:g.133748288_133748290delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L,T315A,F317L,F317V,F317I,F317C MUT Resistant ABL1 (V299L,T315A,F317L,F317V,F317I,F317C) CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748289T>G c.950T>G ABL1:F317C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748289_133748290delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L MUT Responsive ABL1 (V299L) DTamborero Foretinib MET inhibitor Foretinib (MET inhibitor) Pre-clinical ABL1 CANCER PMID:26924578 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Any cancer type
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738325T>C c.725T>C ABL1:I242T CSQN=Missense;reference_codon=ATC;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr9:g.133738325_133738326delTCinsCA,chr9:g.133738325_133738326delTCinsCG,chr9:g.133738325_133738326delTCinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738330A>G c.730A>G ABL1:M244V CSQN=Missense;reference_codon=ATG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738330_133738332delATGinsGTA,chr9:g.133738330_133738332delATGinsGTC,chr9:g.133738330_133738332delATGinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738340A>G c.740A>G ABL1:K247R CSQN=Missense;reference_codon=AAG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr9:g.133738340_133738341delAGinsGA,chr9:g.133738339_133738340delAAinsCG,chr9:g.133738339_133738341delAAGinsCGA,chr9:g.133738339_133738341delAAGinsCGC,chr9:g.133738339_133738341delAAGinsCGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738342C>G c.742C>G ABL1:L248V CSQN=Missense;reference_codon=CTG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738342_133738344delCTGinsGTA,chr9:g.133738342_133738344delCTGinsGTC,chr9:g.133738342_133738344delCTGinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738349G>A c.749G>A ABL1:G250E CSQN=Missense;reference_codon=GGG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr9:g.133738349_133738350delGGinsAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738348G>A c.748G>A ABL1:G250R CSQN=Missense;reference_codon=GGG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr9:g.133738348G>C;candidate_mnv_variants=chr9:g.133738348_133738350delGGGinsAGA,chr9:g.133738348_133738350delGGGinsCGA,chr9:g.133738348_133738350delGGGinsCGC,chr9:g.133738348_133738350delGGGinsCGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738355A>G c.755A>G ABL1:Q252R CSQN=Missense;reference_codon=CAG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr9:g.133738354_133738355delCAinsAG,chr9:g.133738355_133738356delAGinsGA,chr9:g.133738355_133738356delAGinsGC,chr9:g.133738355_133738356delAGinsGT,chr9:g.133738354_133738356delCAGinsAGA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738356G>T c.756G>T ABL1:Q252H CSQN=Missense;reference_codon=CAG;candidate_codons=CAT,CAC;candidate_snv_variants=chr9:g.133738356G>C;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738358A>T c.758A>T ABL1:Y253F CSQN=Missense;reference_codon=TAC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr9:g.133738358_133738359delACinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738357T>C c.757T>C ABL1:Y253H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr9:g.133738357_133738359delTACinsCAT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738363G>A c.763G>A ABL1:E255K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133738363_133738365delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738364A>T c.764A>T ABL1:E255V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738364_133738365delAGinsTA,chr9:g.133738364_133738365delAGinsTC,chr9:g.133738364_133738365delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738309A>G c.709A>G ABL1:M237V CSQN=Missense;reference_codon=ATG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738309_133738311delATGinsGTA,chr9:g.133738309_133738311delATGinsGTC,chr9:g.133738309_133738311delATGinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738374G>C c.774G>C ABL1:E258D CSQN=Missense;reference_codon=GAG;candidate_codons=GAC,GAT;candidate_snv_variants=chr9:g.133738374G>T;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738382G>T c.782G>T ABL1:W261L CSQN=Missense;reference_codon=TGG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr9:g.133738381_133738382delTGinsCT,chr9:g.133738382_133738383delGGinsTA,chr9:g.133738381_133738383delTGGinsCTT,chr9:g.133738381_133738383delTGGinsCTA,chr9:g.133738381_133738383delTGGinsCTC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738417T>A c.817T>A ABL1:L273M CSQN=Missense;reference_codon=TTG;candidate_codons=ATG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747516G>A c.823G>A ABL1:E275K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133747516_133747518delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747516G>C c.823G>C ABL1:E275Q CSQN=Missense;reference_codon=GAG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr9:g.133747516_133747518delGAGinsCAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747520A>G c.827A>G ABL1:D276G CSQN=Missense;reference_codon=GAC;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133747520_133747521delACinsGT,chr9:g.133747520_133747521delACinsGG,chr9:g.133747520_133747521delACinsGA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747522A>G c.829A>G ABL1:T277A CSQN=Missense;reference_codon=ACC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133747522_133747524delACCinsGCA,chr9:g.133747522_133747524delACCinsGCG,chr9:g.133747522_133747524delACCinsGCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747528G>A c.835G>A ABL1:E279K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133747528_133747530delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747532T>C c.839T>C ABL1:V280A CSQN=Missense;reference_codon=GTG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133747532_133747533delTGinsCA,chr9:g.133747532_133747533delTGinsCC,chr9:g.133747532_133747533delTGinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747559T>C c.866T>C ABL1:V289A CSQN=Missense;reference_codon=GTC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133747559_133747560delTCinsCA,chr9:g.133747559_133747560delTCinsCG,chr9:g.133747559_133747560delTCinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747558G>A c.865G>A ABL1:V289I CSQN=Missense;reference_codon=GTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133747558_133747560delGTCinsATA,chr9:g.133747558_133747560delGTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747568A>T c.875A>T ABL1:E292V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133747568_133747569delAGinsTA,chr9:g.133747568_133747569delAGinsTC,chr9:g.133747568_133747569delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747567G>C c.874G>C ABL1:E292Q CSQN=Missense;reference_codon=GAG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr9:g.133747567_133747569delGAGinsCAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747570A>G c.877A>G ABL1:I293V CSQN=Missense;reference_codon=ATC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133747570_133747572delATCinsGTA,chr9:g.133747570_133747572delATCinsGTG,chr9:g.133747570_133747572delATCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747585C>G c.892C>G ABL1:L298V CSQN=Missense;reference_codon=CTG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133747585_133747587delCTGinsGTA,chr9:g.133747585_133747587delCTGinsGTC,chr9:g.133747585_133747587delCTGinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748270T>C c.931T>C ABL1:F311L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133748272C>A,chr9:g.133748272C>G;candidate_mnv_variants=chr9:g.133748270_133748272delTTCinsCTT,chr9:g.133748270_133748272delTTCinsCTG,chr9:g.133748270_133748272delTTCinsCTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748270T>A c.931T>A ABL1:F311I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748270_133748272delTTCinsATA,chr9:g.133748270_133748272delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748283C>T c.944C>T ABL1:T315I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748283_133748284delCTinsTC,chr9:g.133748283_133748284delCTinsTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>C c.949T>C ABL1:F317L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133748290C>A,chr9:g.133748290C>G;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsCTT,chr9:g.133748288_133748290delTTCinsCTG,chr9:g.133748288_133748290delTTCinsCTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>G c.949T>G ABL1:F317V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsGTA,chr9:g.133748288_133748290delTTCinsGTG,chr9:g.133748288_133748290delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>A c.949T>A ABL1:F317I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsATA,chr9:g.133748288_133748290delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748289T>G c.950T>G ABL1:F317C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748289_133748290delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748298A>G c.959A>G ABL1:Y320C CSQN=Missense;reference_codon=TAC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748298_133748299delACinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748310T>A c.971T>A ABL1:L324Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr9:g.133748310_133748311delTGinsAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748363T>C c.1024T>C ABL1:Y342H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr9:g.133748363_133748365delTACinsCAT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748367T>C c.1028T>C ABL1:M343T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr9:g.133748367_133748368delTGinsCA,chr9:g.133748367_133748368delTGinsCT,chr9:g.133748367_133748368delTGinsCC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748370C>T c.1031C>T ABL1:A344V CSQN=Missense;reference_codon=GCC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748370_133748371delCCinsTA,chr9:g.133748370_133748371delCCinsTG,chr9:g.133748370_133748371delCCinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748388C>T c.1049C>T ABL1:A350V CSQN=Missense;reference_codon=GCC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748388_133748389delCCinsTA,chr9:g.133748388_133748389delCCinsTG,chr9:g.133748388_133748389delCCinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748391T>C c.1052T>C ABL1:M351T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr9:g.133748391_133748392delTGinsCA,chr9:g.133748391_133748392delTGinsCT,chr9:g.133748391_133748392delTGinsCC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748404G>C c.1065G>C ABL1:E355D CSQN=Missense;reference_codon=GAG;candidate_codons=GAC,GAT;candidate_snv_variants=chr9:g.133748404G>T;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748403A>G c.1064A>G ABL1:E355G CSQN=Missense;reference_codon=GAG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133748403_133748404delAGinsGT,chr9:g.133748403_133748404delAGinsGA,chr9:g.133748403_133748404delAGinsGC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748403A>C c.1064A>C ABL1:E355A CSQN=Missense;reference_codon=GAG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133748403_133748404delAGinsCA,chr9:g.133748403_133748404delAGinsCC,chr9:g.133748403_133748404delAGinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>G c.1075T>G ABL1:F359V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsGTA,chr9:g.133748414_133748416delTTCinsGTG,chr9:g.133748414_133748416delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>A c.1075T>A ABL1:F359I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsATA,chr9:g.133748414_133748416delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748415T>G c.1076T>G ABL1:F359C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748415_133748416delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>C c.1075T>C ABL1:F359L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133748416C>A,chr9:g.133748416C>G;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsCTT,chr9:g.133748414_133748416delTTCinsCTG,chr9:g.133748414_133748416delTTCinsCTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750256G>T c.1087G>T ABL1:D363Y CSQN=Missense;reference_codon=GAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr9:g.133750256_133750258delGATinsTAC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750259C>A c.1090C>A ABL1:L364I CSQN=Missense;reference_codon=CTT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133750259_133750261delCTTinsATC,chr9:g.133750259_133750261delCTTinsATA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750263C>T c.1094C>T ABL1:A365V CSQN=Missense;reference_codon=GCT;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133750263_133750264delCTinsTA,chr9:g.133750263_133750264delCTinsTC,chr9:g.133750263_133750264delCTinsTG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750266C>G c.1097C>G ABL1:A366G CSQN=Missense;reference_codon=GCC;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133750266_133750267delCCinsGT,chr9:g.133750266_133750267delCCinsGG,chr9:g.133750266_133750267delCCinsGA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750278T>C c.1109T>C ABL1:L370P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr9:g.133750278_133750279delTGinsCT,chr9:g.133750278_133750279delTGinsCA,chr9:g.133750278_133750279delTGinsCC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750281T>C c.1112T>C ABL1:V371A CSQN=Missense;reference_codon=GTA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133750281_133750282delTAinsCC,chr9:g.133750281_133750282delTAinsCG,chr9:g.133750281_133750282delTAinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750286G>A c.1117G>A ABL1:E373K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133750286_133750288delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750304G>A c.1135G>A ABL1:V379I CSQN=Missense;reference_codon=GTA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133750304_133750306delGTAinsATC,chr9:g.133750304_133750306delGTAinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750307G>A c.1138G>A ABL1:A380T CSQN=Missense;reference_codon=GCT;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr9:g.133750307_133750309delGCTinsACA,chr9:g.133750307_133750309delGCTinsACG,chr9:g.133750307_133750309delGCTinsACC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750313T>C c.1144T>C ABL1:F382L CSQN=Missense;reference_codon=TTT;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133750315T>A,chr9:g.133750315T>G;candidate_mnv_variants=chr9:g.133750313_133750315delTTTinsCTG,chr9:g.133750313_133750315delTTTinsCTA,chr9:g.133750313_133750315delTTTinsCTC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750319C>A c.1150C>A ABL1:L384M CSQN=Missense;reference_codon=CTG;candidate_codons=ATG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750328T>A c.1159T>A ABL1:L387M CSQN=Missense;reference_codon=TTG;candidate_codons=ATG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750330G>T c.1161G>T ABL1:L387F CSQN=Missense;reference_codon=TTG;candidate_codons=TTT,TTC;candidate_snv_variants=chr9:g.133750330G>C;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750328T>G c.1159T>G ABL1:L387V CSQN=Missense;reference_codon=TTG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133750328_133750330delTTGinsGTA,chr9:g.133750328_133750330delTTGinsGTC,chr9:g.133750328_133750330delTTGinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750331A>C c.1162A>C ABL1:M388L CSQN=Missense;reference_codon=ATG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133750331A>T;candidate_mnv_variants=chr9:g.133750331_133750333delATGinsCTT,chr9:g.133750331_133750333delATGinsCTA,chr9:g.133750331_133750333delATGinsCTC,chr9:g.133750331_133750333delATGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750347A>G c.1178A>G ABL1:Y393C CSQN=Missense;reference_codon=TAC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133750347_133750348delACinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750356A>C c.1187A>C ABL1:H396P CSQN=Missense;reference_codon=CAT;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr9:g.133750356_133750357delATinsCG,chr9:g.133750356_133750357delATinsCA,chr9:g.133750356_133750357delATinsCC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750356A>G c.1187A>G ABL1:H396R CSQN=Missense;reference_codon=CAT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr9:g.133750356_133750357delATinsGA,chr9:g.133750356_133750357delATinsGC,chr9:g.133750356_133750357delATinsGG,chr9:g.133750355_133750357delCATinsAGG,chr9:g.133750355_133750357delCATinsAGA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750355_133750356delCAinsGC c.1186_1187delCAinsGC ABL1:H396A CSQN=Missense;reference_codon=CAT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133750355_133750357delCATinsGCA,chr9:g.133750355_133750357delCATinsGCC,chr9:g.133750355_133750357delCATinsGCG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750358G>C c.1189G>C ABL1:A397P CSQN=Missense;reference_codon=GCT;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr9:g.133750358_133750360delGCTinsCCG,chr9:g.133750358_133750360delGCTinsCCA,chr9:g.133750358_133750360delGCTinsCCC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750419C>T c.1250C>T ABL1:S417F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr9:g.133750419_133750420delCCinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750419C>A c.1250C>A ABL1:S417Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr9:g.133750419_133750420delCCinsAT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750422T>G c.1253T>G ABL1:I418S CSQN=Missense;reference_codon=ATC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr9:g.133750422_133750423delTCinsGT,chr9:g.133750421_133750422delATinsTC,chr9:g.133750421_133750423delATCinsTCT,chr9:g.133750421_133750423delATCinsTCG,chr9:g.133750421_133750423delATCinsTCA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133750421A>G c.1252A>G ABL1:I418V CSQN=Missense;reference_codon=ATC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133750421_133750423delATCinsGTA,chr9:g.133750421_133750423delATCinsGTG,chr9:g.133750421_133750423delATCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_7] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753828G>A c.1297G>A ABL1:A433T CSQN=Missense;reference_codon=GCT;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr9:g.133753828_133753830delGCTinsACA,chr9:g.133753828_133753830delGCTinsACG,chr9:g.133753828_133753830delGCTinsACC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753844C>G c.1313C>G ABL1:S438C CSQN=Missense;reference_codon=TCC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133753844_133753845delCCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753879G>A c.1348G>A ABL1:E450K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133753879_133753881delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753880A>G c.1349A>G ABL1:E450G CSQN=Missense;reference_codon=GAG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133753880_133753881delAGinsGT,chr9:g.133753880_133753881delAGinsGA,chr9:g.133753880_133753881delAGinsGC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753880A>C c.1349A>C ABL1:E450A CSQN=Missense;reference_codon=GAG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133753880_133753881delAGinsCA,chr9:g.133753880_133753881delAGinsCC,chr9:g.133753880_133753881delAGinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753880A>T c.1349A>T ABL1:E450V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133753880_133753881delAGinsTA,chr9:g.133753880_133753881delAGinsTC,chr9:g.133753880_133753881delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753888G>A c.1357G>A ABL1:E453K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133753888_133753890delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753889A>G c.1358A>G ABL1:E453G CSQN=Missense;reference_codon=GAG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133753889_133753890delAGinsGT,chr9:g.133753889_133753890delAGinsGA,chr9:g.133753889_133753890delAGinsGC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753889A>C c.1358A>C ABL1:E453A CSQN=Missense;reference_codon=GAG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133753889_133753890delAGinsCA,chr9:g.133753889_133753890delAGinsCC,chr9:g.133753889_133753890delAGinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753889A>T c.1358A>T ABL1:E453V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133753889_133753890delAGinsTA,chr9:g.133753889_133753890delAGinsTC,chr9:g.133753889_133753890delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753906G>A c.1375G>A ABL1:E459K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133753906_133753908delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753907A>G c.1376A>G ABL1:E459G CSQN=Missense;reference_codon=GAG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133753907_133753908delAGinsGT,chr9:g.133753907_133753908delAGinsGA,chr9:g.133753907_133753908delAGinsGC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753907A>C c.1376A>C ABL1:E459A CSQN=Missense;reference_codon=GAG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133753907_133753908delAGinsCA,chr9:g.133753907_133753908delAGinsCC,chr9:g.133753907_133753908delAGinsCT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753907A>T c.1376A>T ABL1:E459V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133753907_133753908delAGinsTA,chr9:g.133753907_133753908delAGinsTC,chr9:g.133753907_133753908delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133753947G>C c.1416G>C ABL1:M472I CSQN=Missense;reference_codon=ATG;candidate_codons=ATC,ATA,ATT;candidate_snv_variants=chr9:g.133753947G>A,chr9:g.133753947G>T;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_8] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133755470C>T c.1439C>T ABL1:P480L CSQN=Missense;reference_codon=CCC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr9:g.133755470_133755471delCCinsTT,chr9:g.133755470_133755471delCCinsTG,chr9:g.133755470_133755471delCCinsTA,chr9:g.133755469_133755471delCCCinsTTA,chr9:g.133755469_133755471delCCCinsTTG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_9] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133755488T>C c.1457T>C ABL1:F486S CSQN=Missense;reference_codon=TTT;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr9:g.133755487_133755488delTTinsAG,chr9:g.133755488_133755489delTTinsCG,chr9:g.133755488_133755489delTTinsCC,chr9:g.133755488_133755489delTTinsCA,chr9:g.133755487_133755489delTTTinsAGC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_9] + ENST00000318560 Chronic myeloid leukemia
ABL1:I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G MUT Resistant ABL1 (I242T,M244V,K247R,L248V,G250E,G250R,Q252R,Q252H,Y253F,Y253H,E255K,E255V,M237V,E258D,W261L,L273M,E275K,E275Q,D276G,T277A,E279K,V280A,V289A,V289I,E292V,E292Q,I293V,L298V,V299L,F311L,F311I,T315I,F317L,F317V,F317I,F317C,Y320C,L324Q,Y342H,M343T,A344V,A350V,M351T,E355D,E355G,E355A,F359V,F359I,F359C,F359L,D363Y,L364I,A365V,A366G,L370P,V371A,E373K,V379I,A380T,F382L,L384M,L387M,L387F,L387V,M388L,Y393C,H396P,H396R,H396A,A397P,S417F,S417Y,I418S,I418V,A433T,S438C,E450K,E450G,E450A,E450V,E453K,E453G,E453A,E453V,E459K,E459G,E459A,E459V,M472I,P480L,F486S,E507G) CRubio-Perez Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133755893A>G c.1520A>G ABL1:E507G CSQN=Missense;reference_codon=GAA;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr9:g.133755893_133755894delAAinsGT,chr9:g.133755893_133755894delAAinsGG,chr9:g.133755893_133755894delAAinsGC;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_10] + ENST00000318560 Chronic myeloid leukemia
ABL1:E255K,E255V,Y253H,F359V,F359C,F359I MUT Resistant ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) CRubio-Perez Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738363G>A c.763G>A ABL1:E255K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr9:g.133738363_133738365delGAGinsAAA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:E255K,E255V,Y253H,F359V,F359C,F359I MUT Resistant ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) CRubio-Perez Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738364A>T c.764A>T ABL1:E255V CSQN=Missense;reference_codon=GAG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133738364_133738365delAGinsTA,chr9:g.133738364_133738365delAGinsTC,chr9:g.133738364_133738365delAGinsTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:E255K,E255V,Y253H,F359V,F359C,F359I MUT Resistant ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) CRubio-Perez Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133738357T>C c.757T>C ABL1:Y253H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr9:g.133738357_133738359delTACinsCAT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_4] + ENST00000318560 Chronic myeloid leukemia
ABL1:E255K,E255V,Y253H,F359V,F359C,F359I MUT Resistant ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) CRubio-Perez Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>G c.1075T>G ABL1:F359V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsGTA,chr9:g.133748414_133748416delTTCinsGTG,chr9:g.133748414_133748416delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:E255K,E255V,Y253H,F359V,F359C,F359I MUT Resistant ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) CRubio-Perez Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748415T>G c.1076T>G ABL1:F359C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748415_133748416delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:E255K,E255V,Y253H,F359V,F359C,F359I MUT Resistant ABL1 (E255K,E255V,Y253H,F359V,F359C,F359I) CRubio-Perez Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved European LeukemiaNet guidelines ABL1 CML PMID:21562040 chr9:g.133748414T>A c.1075T>A ABL1:F359I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748414_133748416delTTCinsATA,chr9:g.133748414_133748416delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,V299L MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748282A>G c.943A>G ABL1:T315A CSQN=Missense;reference_codon=ACT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr9:g.133748282_133748284delACTinsGCA,chr9:g.133748282_133748284delACTinsGCC,chr9:g.133748282_133748284delACTinsGCG;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,V299L MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>C c.949T>C ABL1:F317L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133748290C>A,chr9:g.133748290C>G;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsCTT,chr9:g.133748288_133748290delTTCinsCTG,chr9:g.133748288_133748290delTTCinsCTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,V299L MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>G c.949T>G ABL1:F317V CSQN=Missense;reference_codon=TTC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsGTA,chr9:g.133748288_133748290delTTCinsGTG,chr9:g.133748288_133748290delTTCinsGTT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,V299L MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748288T>A c.949T>A ABL1:F317I CSQN=Missense;reference_codon=TTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748288_133748290delTTCinsATA,chr9:g.133748288_133748290delTTCinsATT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,V299L MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748289T>G c.950T>G ABL1:F317C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr9:g.133748289_133748290delTCinsGT;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315A,F317L,F317V,F317I,F317C,V299L MUT Responsive ABL1 (T315A,F317L,F317V,F317I,F317C,V299L) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Chronic myeloid leukemia
ABL1:T315I MUT Responsive ABL1 (T315I) CRubio-Perez;DTamborero;RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Approved FDA guidelines ABL1 CML;ALL FDA chr9:g.133748283C>T c.944C>T ABL1:T315I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748283_133748284delCTinsTC,chr9:g.133748283_133748284delCTinsTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia;Acute lymphoblastic leukemia
ABL1:T315I MUT Responsive ABL1 (T315I) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Approved NCCN guidelines ABL1 CML PMID:21562040 chr9:g.133748283C>T c.944C>T ABL1:T315I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr9:g.133748283_133748284delCTinsTC,chr9:g.133748283_133748284delCTinsTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_6] + ENST00000318560 Chronic myeloid leukemia
ABL1:V299L MUT Responsive ABL1 (V299L) DTamborero Vandetanib Pan-TK inhibitor Vandetanib (Pan-TK inhibitor) Pre-clinical ABL1 CANCER PMID:26924578 chr9:g.133747588G>C c.895G>C ABL1:V299L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr9:g.133747588G>T;candidate_mnv_variants=chr9:g.133747588_133747590delGTGinsCTT,chr9:g.133747588_133747590delGTGinsCTA,chr9:g.133747588_133747590delGTGinsCTC,chr9:g.133747588_133747590delGTGinsTTA;aliases=ENSP00000323315;source=Ensembl inside_[cds_in_exon_5] + ENST00000318560 Any cancer type
AKT1:E17K MUT Responsive AKT1 (E17K) RDientsmann [] [AKT inhibitor] AKT inhibitors Clinical Trials Pre-clinical AKT1 CANCER PMID:21464312;PMID:17611497;PMID:23134728; ENA 2015 (abstr B109) chr14:g.105246551C>T c.49G>A AKT1:E17K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105246549_105246551delCTCinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_2] - ENST00000554581 Any cancer type
AKT1:E17K MUT Responsive AKT1 (E17K) RDientsmann [] [allosteric AKT inhibitor] allosteric AKT inhibitors Early trials AKT1 CANCER ENA 2015 (abstract B109);PMID:28489509 chr14:g.105246551C>T c.49G>A AKT1:E17K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105246549_105246551delCTCinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_2] - ENST00000554581 Any cancer type
AKT1:Q79K,E17K MUT Resistant AKT1 (Q79K,E17K) RDientsmann;DTamborero [] [BRAF inhibitor] BRAF inhibitors Case report AKT1 CM PMID:24265152 chr14:g.105243048G>T c.235C>A AKT1:Q79K CSQN=Missense;reference_codon=CAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105243046_105243048delCTGinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_3] - ENST00000554581 Cutaneous melanoma
AKT1:Q79K,E17K MUT Resistant AKT1 (Q79K,E17K) RDientsmann;DTamborero [] [BRAF inhibitor] BRAF inhibitors Case report AKT1 CM PMID:24265152 chr14:g.105246551C>T c.49G>A AKT1:E17K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105246549_105246551delCTCinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_2] - ENST00000554581 Cutaneous melanoma
AKT1:E17K MUT Responsive AKT1 (E17K) RDientsmann [] [non-allosteric AKT inhibitor] non-allosteric AKT inhibitors Clinical Trials Early trials AKT1 CANCER ENA 2015 (abstract B109);PMID:28489509 chr14:g.105246551C>T c.49G>A AKT1:E17K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105246549_105246551delCTCinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_2] - ENST00000554581 Any cancer type
AKT1:E17K MUT Responsive AKT1 (E17K) RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Case report AKT1 HNSC PMID:26763254 chr14:g.105246551C>T c.49G>A AKT1:E17K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105246549_105246551delCTCinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_2] - ENST00000554581 Head an neck squamous
AKT1:H238Y MUT Responsive AKT1 (H238Y) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report AKT1 FH ASCO 2015 (abstr 11010) chr14:g.105239908G>A c.712C>T AKT1:H238Y CSQN=Missense;reference_codon=CAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr14:g.105239906_105239908delGTGinsATA;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_8] - ENST00000554581 Fibrous histiocytoma
AKT1:E17K MUT Responsive AKT1 (E17K) RDientsmann Tensirolimus MTOR inhibitor Tensirolimus (MTOR inhibitor) Early trials AKT1 ED PMID:27016228 chr14:g.105246551C>T c.49G>A AKT1:E17K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr14:g.105246549_105246551delCTCinsTTT;aliases=ENSP00000451828;source=Ensembl inside_[cds_in_exon_2] - ENST00000554581 Endometrium
ALK:F1174L MUT Responsive ALK (F1174L) RDientsmann [] [novel ALK inhibitor] novel ALK inhibitors Pre-clinical ALK LUAD PMID:24327273 chr2:g.29443697A>G c.3520T>C ALK:F1174L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr2:g.29443695G>T,chr2:g.29443695G>C;candidate_mnv_variants=chr2:g.29443695_29443697delGAAinsAAG,chr2:g.29443695_29443697delGAAinsCAG,chr2:g.29443695_29443697delGAAinsTAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:I1171T MUT Resistant ALK (I1171T) RDientsmann Alectinib ALK inhibitor Alectinib (ALK inhibitor) Case report ALK LUAD PMID:25228534 chr2:g.29445213A>G c.3512T>C ALK:I1171T CSQN=Missense;reference_codon=ATC;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr2:g.29445212_29445213delGAinsTG,chr2:g.29445212_29445213delGAinsCG,chr2:g.29445212_29445213delGAinsAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Lung adenocarcinoma
ALK:E1408V MUT Responsive ALK (E1408V) RDientsmann Brigatinib Pan-TK inhibitor Brigatinib (Pan-TK inhibitor) Case report ALK LUAD ASCO 2017 (abstr 9065) chr2:g.29416730T>A c.4223A>T ALK:E1408V CSQN=Missense;reference_codon=GAA;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr2:g.29416729_29416730delTTinsGA,chr2:g.29416729_29416730delTTinsCA,chr2:g.29416729_29416730delTTinsAA;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_29] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M MUT Responsive ALK (L1196M) RDientsmann Brigatinib Pan-TK inhibitor Brigatinib (Pan-TK inhibitor) Case report ALK LUAD ASCO 2017 (abstr 9065) chr2:g.29443631G>T c.3586C>A ALK:L1196M CSQN=Missense;reference_codon=CTG;candidate_codons=ATG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK::consequence::inframe_insertion:.1151T. MUT Responsive ALK inframe insertion (1151T) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) FDA guidelines ALK LUAD PMID:24670165 Lung adenocarcinoma
ALK:G1123S MUT Resistant ALK (G1123S) EArriola Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) Case report ALK LUAD PMID:26134233 chr2:g.29445466C>T c.3367G>A ALK:G1123S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr2:g.29445464_29445466delGCCinsACT,chr2:g.29445465_29445466delCCinsGA,chr2:g.29445464_29445466delGCCinsAGA,chr2:g.29445464_29445466delGCCinsCGA,chr2:g.29445464_29445466delGCCinsTGA;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_21] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,S1206Y,G1269A,I1171T MUT Responsive ALK (L1196M,S1206Y,G1269A,I1171T) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) FDA guidelines ALK LUAD PMID:24670165;PMID:24327273 chr2:g.29443631G>T c.3586C>A ALK:L1196M CSQN=Missense;reference_codon=CTG;candidate_codons=ATG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,S1206Y,G1269A,I1171T MUT Responsive ALK (L1196M,S1206Y,G1269A,I1171T) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) FDA guidelines ALK LUAD PMID:24670165;PMID:24327273 chr2:g.29443600G>T c.3617C>A ALK:S1206Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr2:g.29443599_29443600delGGinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,S1206Y,G1269A,I1171T MUT Responsive ALK (L1196M,S1206Y,G1269A,I1171T) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) FDA guidelines ALK LUAD PMID:24670165;PMID:24327273 chr2:g.29432682C>G c.3806G>C ALK:G1269A CSQN=Missense;reference_codon=GGA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr2:g.29432681_29432682delTCinsGG,chr2:g.29432681_29432682delTCinsCG,chr2:g.29432681_29432682delTCinsAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_25] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,S1206Y,G1269A,I1171T MUT Responsive ALK (L1196M,S1206Y,G1269A,I1171T) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) FDA guidelines ALK LUAD PMID:24670165;PMID:24327273 chr2:g.29445213A>G c.3512T>C ALK:I1171T CSQN=Missense;reference_codon=ATC;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr2:g.29445212_29445213delGAinsTG,chr2:g.29445212_29445213delGAinsCG,chr2:g.29445212_29445213delGAinsAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Lung adenocarcinoma
ALK::consequence::inframe_insertion:.1151T. MUT Resistant ALK inframe insertion (1151T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784 Lung adenocarcinoma
ALK:. MUT Resistant ALK oncogenic mutation EArriola Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Approved Clinical trials ALK NSCLC PMID:22235099 Non-small cell lung
ALK:C1156Y,L1196M MUT Resistant ALK (C1156Y,L1196M) EArriola Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Approved Case report ALK NSCLC PMID:20979473 chr2:g.29445258C>T c.3467G>A ALK:C1156Y CSQN=Missense;reference_codon=TGC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr2:g.29445257_29445258delGCinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Non-small cell lung
ALK:C1156Y,L1196M MUT Resistant ALK (C1156Y,L1196M) EArriola Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Approved Case report ALK NSCLC PMID:20979473 chr2:g.29443631G>T c.3586C>A ALK:L1196M CSQN=Missense;reference_codon=CTG;candidate_codons=ATG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Non-small cell lung
ALK:F1174L MUT Resistant ALK (F1174L) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK G PMID:22072639 chr2:g.29443697A>G c.3520T>C ALK:F1174L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr2:g.29443695G>T,chr2:g.29443695G>C;candidate_mnv_variants=chr2:g.29443695_29443697delGAAinsAAG,chr2:g.29443695_29443697delGAAinsCAG,chr2:g.29443695_29443697delGAAinsTAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Glioma
ALK:F856S,A348D MUT Responsive ALK (F856S,A348D) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK AML PMID:26032424 chr2:g.29455235A>G c.2567T>C ALK:F856S CSQN=Missense;reference_codon=TTC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr2:g.29455235_29455236delAAinsCT,chr2:g.29455234_29455235delGAinsAG,chr2:g.29455234_29455235delGAinsCG,chr2:g.29455234_29455235delGAinsTG,chr2:g.29455234_29455236delGAAinsACT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_15] - ENST00000389048 Acute myeloid leukemia
ALK:F856S,A348D MUT Responsive ALK (F856S,A348D) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK AML PMID:26032424 chr2:g.29754892G>T c.1043C>A ALK:A348D CSQN=Missense;reference_codon=GCC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr2:g.29754891_29754892delGGinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_4] - ENST00000389048 Acute myeloid leukemia
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29443631G>T c.3586C>A ALK:L1196M CSQN=Missense;reference_codon=CTG;candidate_codons=ATG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29445270A>C c.3455T>G ALK:L1152R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr2:g.29445270_29445271delAGinsCT,chr2:g.29445269_29445270delCAinsTC,chr2:g.29445269_29445270delCAinsGC,chr2:g.29445269_29445270delCAinsAC,chr2:g.29445269_29445271delCAGinsTCT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29445258C>T c.3467G>A ALK:C1156Y CSQN=Missense;reference_codon=TGC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr2:g.29445257_29445258delGCinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29443697A>G c.3520T>C ALK:F1174L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr2:g.29443695G>T,chr2:g.29443695G>C;candidate_mnv_variants=chr2:g.29443695_29443697delGAAinsAAG,chr2:g.29443695_29443697delGAAinsCAG,chr2:g.29443695_29443697delGAAinsTAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29443613C>T c.3604G>A ALK:G1202R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr2:g.29443613C>G;candidate_mnv_variants=chr2:g.29443611_29443613delTCCinsCCT,chr2:g.29443611_29443613delTCCinsGCG,chr2:g.29443611_29443613delTCCinsCCG,chr2:g.29443611_29443613delTCCinsACG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29443600G>T c.3617C>A ALK:S1206Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr2:g.29443599_29443600delGGinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29432682C>G c.3806G>C ALK:G1269A CSQN=Missense;reference_codon=GGA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr2:g.29432681_29432682delTCinsGG,chr2:g.29432681_29432682delTCinsCG,chr2:g.29432681_29432682delTCinsAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_25] - ENST00000389048 Lung adenocarcinoma
ALK:L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T MUT Resistant ALK (L1196M,L1152R,C1156Y,F1174L,G1202R,S1206Y,G1269A,I1171T) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:22277784;PMID:25228534 chr2:g.29445213A>G c.3512T>C ALK:I1171T CSQN=Missense;reference_codon=ATC;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr2:g.29445212_29445213delGAinsTG,chr2:g.29445212_29445213delGAinsCG,chr2:g.29445212_29445213delGAinsAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Lung adenocarcinoma
ALK:L1198F MUT Responsive ALK (L1198F) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ALK LUAD PMID:26698910 chr2:g.29443625G>A c.3592C>T ALK:L1198F CSQN=Missense;reference_codon=CTC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr2:g.29443623_29443625delGAGinsAAA;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Lung adenocarcinoma
ALK:R1275Q,G1128A,I1171N,R1192P,F1245C MUT Responsive ALK (R1275Q,G1128A,I1171N,R1192P,F1245C) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK G PMID:22072639 chr2:g.29432664C>T c.3824G>A ALK:R1275Q CSQN=Missense;reference_codon=CGA;candidate_codons=CAA,CAG;candidate_mnv_variants=chr2:g.29432663_29432664delTCinsCT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_25] - ENST00000389048 Glioma
ALK:R1275Q,G1128A,I1171N,R1192P,F1245C MUT Responsive ALK (R1275Q,G1128A,I1171N,R1192P,F1245C) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK G PMID:22072639 chr2:g.29445450C>G c.3383G>C ALK:G1128A CSQN=Missense;reference_codon=GGG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr2:g.29445449_29445450delCCinsTG,chr2:g.29445449_29445450delCCinsGG,chr2:g.29445449_29445450delCCinsAG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_21] - ENST00000389048 Glioma
ALK:R1275Q,G1128A,I1171N,R1192P,F1245C MUT Responsive ALK (R1275Q,G1128A,I1171N,R1192P,F1245C) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK G PMID:22072639 chr2:g.29445213A>T c.3512T>A ALK:I1171N CSQN=Missense;reference_codon=ATC;candidate_codons=AAC,AAT;candidate_mnv_variants=chr2:g.29445212_29445213delGAinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Glioma
ALK:R1275Q,G1128A,I1171N,R1192P,F1245C MUT Responsive ALK (R1275Q,G1128A,I1171N,R1192P,F1245C) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK G PMID:22072639 chr2:g.29443642C>G c.3575G>C ALK:R1192P CSQN=Missense;reference_codon=CGG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr2:g.29443641_29443642delCCinsAG,chr2:g.29443641_29443642delCCinsTG,chr2:g.29443641_29443642delCCinsGG;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_23] - ENST00000389048 Glioma
ALK:R1275Q,G1128A,I1171N,R1192P,F1245C MUT Responsive ALK (R1275Q,G1128A,I1171N,R1192P,F1245C) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical ALK G PMID:22072639 chr2:g.29436859A>C c.3734T>G ALK:F1245C CSQN=Missense;reference_codon=TTC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr2:g.29436858_29436859delGAinsAC;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_24] - ENST00000389048 Glioma
ALK:C1156Y MUT Responsive ALK (C1156Y) RDientsmann Lorlatinib ALK&ROS1 inhibitor Lorlatinib (ALK&ROS1 inhibitor) Pre-clinical ALK LUAD PMID:27401242 chr2:g.29445258C>T c.3467G>A ALK:C1156Y CSQN=Missense;reference_codon=TGC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr2:g.29445257_29445258delGCinsAT;aliases=ENSP00000373700;source=Ensembl inside_[cds_in_exon_22] - ENST00000389048 Lung adenocarcinoma
APC:. MUT Responsive APC oncogenic mutation RDientsmann [] [Tankyrase inhibitor] Tankyrase inhibitors Pre-clinical APC COREAD PMID:22440753;PMID:23539443 Colorectal adenocarcinoma
AR:L702H,T878A MUT Resistant AR (L702H,T878A) RDientsmann Abiraterone AR inhibitor Abiraterone (AR inhibitor) Approved Early trials AR PRAD PMID:26537258 chrX:g.66931463T>A c.2105T>A AR:L702H CSQN=Missense;reference_codon=CTC;candidate_codons=CAT,CAC;candidate_mnv_variants=chrX:g.66931463_66931464delTCinsAT;aliases=ENSP00000363822;source=Ensembl inside_[cds_in_exon_4] + ENST00000374690 Prostate adenocarcinoma
AR:L702H,T878A MUT Resistant AR (L702H,T878A) RDientsmann Abiraterone AR inhibitor Abiraterone (AR inhibitor) Approved Early trials AR PRAD PMID:26537258 chrX:g.66943552A>G c.2632A>G AR:T878A CSQN=Missense;reference_codon=ACT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chrX:g.66943552_66943554delACTinsGCA,chrX:g.66943552_66943554delACTinsGCC,chrX:g.66943552_66943554delACTinsGCG;aliases=ENSP00000363822;source=Ensembl inside_[cds_in_exon_8] + ENST00000374690 Prostate adenocarcinoma
AR:F877L MUT Resistant AR (F877L) RDientsmann;ARodriguez-Vida Arn-509 AR inhibitor Arn-509 (AR inhibitor) Case report AR PRAD PRAD PMID:23779130 chrX:g.66943549T>C c.2629T>C AR:F877L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chrX:g.66943551C>A,chrX:g.66943551C>G;candidate_mnv_variants=chrX:g.66943549_66943551delTTCinsCTT,chrX:g.66943549_66943551delTTCinsCTG,chrX:g.66943549_66943551delTTCinsCTA;aliases=ENSP00000363822;source=Ensembl inside_[cds_in_exon_8] + ENST00000374690 Prostate adenocarcinoma
AR:F877L MUT Resistant AR (F877L) RDientsmann;ARodriguez-Vida Enzalutamide AR inhibitor Enzalutamide (AR inhibitor) Case report AR PRAD PRAD PMID:23779130 chrX:g.66943549T>C c.2629T>C AR:F877L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chrX:g.66943551C>A,chrX:g.66943551C>G;candidate_mnv_variants=chrX:g.66943549_66943551delTTCinsCTT,chrX:g.66943549_66943551delTTCinsCTG,chrX:g.66943549_66943551delTTCinsCTA;aliases=ENSP00000363822;source=Ensembl inside_[cds_in_exon_8] + ENST00000374690 Prostate adenocarcinoma
AR:T878A MUT Resistant AR (T878A) RDientsmann;ARodriguez-Vida Flutamide AR inhibitor Flutamide (AR inhibitor) Case report AR PRAD PRAD PMID:2260966 chrX:g.66943552A>G c.2632A>G AR:T878A CSQN=Missense;reference_codon=ACT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chrX:g.66943552_66943554delACTinsGCA,chrX:g.66943552_66943554delACTinsGCC,chrX:g.66943552_66943554delACTinsGCG;aliases=ENSP00000363822;source=Ensembl inside_[cds_in_exon_8] + ENST00000374690 Prostate adenocarcinoma
ARAF:. MUT Resistant ARAF oncogenic mutation RDientsmann [] [BRAF inhibitor;EGFR mAb inhibitor] BRAF inhibitor + EGFR mAb inhibitors Case report ARAF COREAD ENA 2014 (abstr 428) Colorectal adenocarcinoma
ARAF:. MUT Resistant ARAF oncogenic mutation RDientsmann [] [BRAF inhibitor;MEK inhibitor] BRAF inhibitor + MEK inhibitors Case report ARAF COREAD ENA 2014 (abstr 428) Colorectal adenocarcinoma
ARAF:S214C MUT Responsive ARAF (S214C) JAlbanell;ARovira;RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) FDA approved Case report ARAF LUAD http:https://www.jci.org/articles/view/72763;PMID:24569458 Direct:primary target chrX:g.47426121C>G c.641C>G ARAF:S214C CSQN=Missense;reference_codon=TCC;candidate_codons=TGT,TGC;candidate_mnv_variants=chrX:g.47426121_47426122delCCinsGT;aliases=ENSP00000366244;source=Ensembl inside_[cds_in_exon_7] + ENST00000377045 Lung adenocarcinoma
ARID1A:. MUT Responsive ARID1A oncogenic mutation RDientsmann [] [ATR inhibitors] ATR inhibitors Pre-clinical ARID1A CANCER PMID:27958275 Any cancer type
ARID1A:. MUT Responsive ARID1A oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Pre-clinical ARID1A OV PMID:25686104 Ovary
ARID1A:. MUT Responsive ARID1A oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Pre-clinical ARID1A CANCER PMID:26069190 Any cancer type
ATM:. MUT Responsive ATM oncogenic mutation RDientsmann [] [ATR inhibitor] ATR inhibitors Case report ATM COREAD ENA 2015 (abstr A48) Colorectal adenocarcinoma
ATM:. MUT Responsive ATM oncogenic mutation RDientsmann [] [DNA-PKc inhibitor] DNA-PKc inhibitors Pre-clinical ATM LY PMID:23761041 Lymphoma
ATM:. MUT Responsive ATM oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Early trials ATM ST ENA 2014 (abstr 8LBA) Stomach
ATM:. MUT Responsive ATM oncogenic mutation ARodriguez-Vida Cisplatin Chemotherapy Cisplatin (Chemotherapy) Approved Early trials ATM BLCA BLCA PMID:26238431 Indirect Bladder
ATM:. MUT Responsive ATM oncogenic mutation RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Early trials ATM ST;PRAD ENA 2014 (abstr 8LBA);PMID:26510020 Stomach;Prostate adenocarcinoma
ATM:. MUT Responsive ATM oncogenic mutation RDientsmann Temozolomide Chemotherapy Temozolomide (Chemotherapy) Pre-clinical ATM G PMID:23960094 Glioma
ATR:. MUT Cell line Responsive ATR oncogenic mutation CRubio-Perez;ECampo;RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Approved Pre-clinical ATR OV;CANCER PMID:23548269 Indirect Ovary;Any cancer type
ATR:. MUT Responsive ATR oncogenic mutation RDientsmann Temozolomide Chemotherapy Temozolomide (Chemotherapy) Pre-clinical ATR G PMID:23960094 Glioma
B2M:. MUT Resistant B2M oncogenic mutation RDientsmann [] [PD1 Ab inhibitor] PD1 Ab inhibitors Case report B2M CM PMID:27433843 Cutaneous melanoma
BAP1:. MUT Responsive BAP1 oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Pre-clinical BAP1 MESO PMID:26437366 Mesothelioma
BAP1:. MUT Responsive BAP1 oncogenic mutation RDientsmann [] [HDAC inhibitor] HDAC inhibitors Pre-clinical BAP1 CM PMID:22038994 Cutaneous melanoma
BAP1:. MUT Responsive BAP1 oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Pre-clinical BAP1 R;CANCER PMID:22683710 Renal;Any cancer type
BCOR:. MUT Responsive BCOR oncogenic mutation RDientsmann Enzastaurin PKCb inhibitor Enzastaurin (PKCb inhibitor) Pre-clinical BCOR ST PMID:27397505 Stomach
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [BRAF inhibitor;CDK2/4 inhibitor] BRAF inhibitor + CDK2/4 inhibitors Pre-clinical BRAF CM PMID:22997239 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600. MUT Responsive BRAF (V600) RDientsmann [] [BRAF inhibitor;EGFR mAb inhibitor +/- PI3K inhibitor] BRAF inhibitor + EGFR mAb inhibitor +/- PI3K inhibitors Early trials BRAF COREAD PMID:28363909 Colorectal adenocarcinoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [BRAF inhibitor;HSP90 inhibitor] BRAF inhibitor + HSP90 inhibitors Pre-clinical BRAF CM PMID:22351686 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [BRAF inhibitor;MEK inhibitor] BRAF inhibitor + MEK inhibitors Early trials BRAF TH ASCO 2013 (abstr 9029) chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Thyroid
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [BRAF inhibitor;PI3K pathway inhibitor] BRAF inhibitor + PI3K pathway inhibitors Pre-clinical BRAF CM PMID:22389471;PMID:21156289 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:L597R MUT Responsive BRAF (L597R) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Case report BRAF CM PMID:23715574 chr7:g.140453145A>C c.1790T>G BRAF:L597R CSQN=Missense;reference_codon=CTA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453145_140453146delAGinsCT,chr7:g.140453144_140453145delTAinsGC,chr7:g.140453144_140453145delTAinsCC,chr7:g.140453144_140453145delTAinsAC,chr7:g.140453144_140453146delTAGinsCCT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Pre-clinical BRAF G PMID:22038996;PMID:22586120 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Glioma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Case report BRAF OV PMID:22608338 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Ovary
BRAF:V600E,G469A MUT Resistant BRAF (V600E,G469A) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Case report BRAF LUAD PMID:22773810 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Lung adenocarcinoma
BRAF:V600E,G469A MUT Resistant BRAF (V600E,G469A) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Case report BRAF LUAD PMID:22773810 chr7:g.140481402C>G c.1406G>C BRAF:G469A CSQN=Missense;reference_codon=GGA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.140481401_140481402delTCinsGG,chr7:g.140481401_140481402delTCinsCG,chr7:g.140481401_140481402delTCinsAG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_11] - ENST00000288602 Lung adenocarcinoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [ERK inhibitor] ERK inhibitors Pre-clinical BRAF CM PMID:23614898;PMID:22997239 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:G469A MUT Responsive BRAF (G469A) RDientsmann [] [ERK inhibitor] ERK inhibitors Case report BRAF HNSC ASCO 2017 (abstr 2508) chr7:g.140481402C>G c.1406G>C BRAF:G469A CSQN=Missense;reference_codon=GGA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.140481401_140481402delTCinsGG,chr7:g.140481401_140481402delTCinsCG,chr7:g.140481401_140481402delTCinsAG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_11] - ENST00000288602 Head an neck squamous
BRAF:L485W MUT Responsive BRAF (L485W) RDientsmann [] [ERK inhibitor] ERK inhibitors Case report BRAF BT ASCO 2017 (abstr 2508) chr7:g.140477854A>C c.1454T>G BRAF:L485W CSQN=Missense;reference_codon=TTG;candidate_codons=TGG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_12] - ENST00000288602 Billiary tract
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [ERK inhibitor] ERK inhibitors Early trials BRAF LUAD ASCO 2017 (abstr 2508) chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Lung adenocarcinoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [MEK inhibitor] MEK inhibitors Early trials BRAF TH PMID:22241789 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Thyroid
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical BRAF OV PMID:19018267 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Ovary
BRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490. MUT Responsive BRAF inframe deletion (L485),inframe deletion (P490) RDientsmann [] [Pan-RAF inhibitor] Pan-RAF inhibitors Pre-clinical BRAF CANCER PMID:26732095 Any cancer type
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann [] [Pan-RAF inhibitor] Pan-RAF inhibitors Early trials BRAF CM ESMO 2015 (abstract 300);AACR 2016 (abstr CT005);AACR 2017 (abstr CT002) chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:K601R,L597R,V600R MUT Responsive BRAF (K601R,L597R,V600R) RDientsmann [Trametinib] [MEK inhibitor] MEK inhibitors (Trametinib,etc) Case report BRAF CM PMID:23248257;PMID:22805292;PMID:23248257 chr7:g.140453133T>C c.1802A>G BRAF:K601R CSQN=Missense;reference_codon=AAA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453132_140453133delTTinsCC,chr7:g.140453133_140453134delTTinsCG,chr7:g.140453132_140453134delTTTinsGCG,chr7:g.140453132_140453134delTTTinsCCG,chr7:g.140453132_140453134delTTTinsACG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:K601R,L597R,V600R MUT Responsive BRAF (K601R,L597R,V600R) RDientsmann [Trametinib] [MEK inhibitor] MEK inhibitors (Trametinib,etc) Case report BRAF CM PMID:23248257;PMID:22805292;PMID:23248257 chr7:g.140453145A>C c.1790T>G BRAF:L597R CSQN=Missense;reference_codon=CTA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453145_140453146delAGinsCT,chr7:g.140453144_140453145delTAinsGC,chr7:g.140453144_140453145delTAinsCC,chr7:g.140453144_140453145delTAinsAC,chr7:g.140453144_140453146delTAGinsCCT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:K601R,L597R,V600R MUT Responsive BRAF (K601R,L597R,V600R) RDientsmann [Trametinib] [MEK inhibitor] MEK inhibitors (Trametinib,etc) Case report BRAF CM PMID:23248257;PMID:22805292;PMID:23248257 chr7:g.140453136_140453137delACinsCT c.1798_1799delGTinsAG BRAF:V600R CSQN=Missense;reference_codon=GTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453136_140453137delACinsCG,chr7:g.140453135_140453137delCACinsTCT,chr7:g.140453135_140453137delCACinsTCG,chr7:g.140453135_140453137delCACinsGCG,chr7:g.140453135_140453137delCACinsACG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Resistant BRAF (V600E) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Late trials BRAF COREAD PMID:20619739;PMID:21163703;PMID:23325582 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Colorectal adenocarcinoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Dabrafenib BRAF inhibitor Dabrafenib (BRAF inhibitor) Early trials BRAF LUAD;TH PMID:23524406;PMID:22608338;ASCO 2013 (abstr 8009);ESMO 2014 (abstr LBA38_PR);PMID:20818844;PMID:23489023;PMID:27080216 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Lung adenocarcinoma;Thyroid
BRAF:V600E MUT Responsive BRAF (V600E) CRubio-Perez Dabrafenib BRAF inhibitor Dabrafenib (BRAF inhibitor) NCCN guidelines BRAF NSCLC NCCN chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung
BRAF:V600E MUT Responsive BRAF (V600E) CRubio-Perez;DTamborero;RDientsmann Dabrafenib BRAF inhibitor Dabrafenib (BRAF inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Dabrafenib BRAF inhibitor Dabrafenib (BRAF inhibitor) Case report BRAF GIST PMID:23470635;PMID:22608338 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Gastrointestinal stromal
BRAF:V600R MUT Responsive BRAF (V600R) RDientsmann Dabrafenib BRAF inhibitor Dabrafenib (BRAF inhibitor) Early trials BRAF CM PMID:23237741 chr7:g.140453136_140453137delACinsCT c.1798_1799delGTinsAG BRAF:V600R CSQN=Missense;reference_codon=GTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453136_140453137delACinsCG,chr7:g.140453135_140453137delCACinsTCT,chr7:g.140453135_140453137delCACinsTCG,chr7:g.140453135_140453137delCACinsGCG,chr7:g.140453135_140453137delCACinsACG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Dabrafenib;Trametinib BRAF inhibitor;MEK inhibitor Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Early trials BRAF COREAD PMID:26392102;ASCO 2015 (abstr 8006) chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Colorectal adenocarcinoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Dabrafenib;Trametinib BRAF inhibitor;MEK inhibitor Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Case report BRAF NEU PMID:27048246 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Neuroendocrine
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Dabrafenib;Trametinib BRAF inhibitor;MEK inhibitor Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) FDA guidelines BRAF LUAD PMID:27283860 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Lung adenocarcinoma
BRAF:V600E,V600K MUT Responsive BRAF (V600E,V600K) RDientsmann Dabrafenib;Trametinib BRAF inhibitor;MEK inhibitor Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E,V600K MUT Responsive BRAF (V600E,V600K) RDientsmann Dabrafenib;Trametinib BRAF inhibitor;MEK inhibitor Dabrafenib + Trametinib (BRAF inhibitor + MEK inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136_140453137delACinsTT c.1798_1799delGTinsAA BRAF:V600K CSQN=Missense;reference_codon=GTG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.140453135_140453137delCACinsTTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:G466V MUT Responsive BRAF (G466V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical BRAF LUAD PMID:22649091 chr7:g.140481411C>A c.1397G>T BRAF:G466V CSQN=Missense;reference_codon=GGA;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr7:g.140481410_140481411delTCinsGA,chr7:g.140481410_140481411delTCinsCA,chr7:g.140481410_140481411delTCinsAA;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_11] - ENST00000288602 Lung adenocarcinoma
BRAF:Y472C MUT Responsive BRAF (Y472C) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Case report BRAF LUAD PMID:22649091 chr7:g.140481393T>C c.1415A>G BRAF:Y472C CSQN=Missense;reference_codon=TAC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.140481392_140481393delGTinsAC;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_11] - ENST00000288602 Lung adenocarcinoma
BRAF:V600. MUT Responsive BRAF (V600) RDientsmann Irinotecan;Vemurafenib;Cetuximab TOPO1 inhibitor;BRAF inhibitor;EGFR mAb inhibitor Irinotecan + Vemurafenib + Cetuximab (TOPO1 inhibitor + BRAF inhibitor + EGFR mAb inhibitor) Early trials BRAF COREAD PMID:27729313 Colorectal adenocarcinoma
BRAF:V600E MUT Resistant BRAF (V600E) RDientsmann Panitumumab EGFR mAb inhibitor Panitumumab (EGFR mAb inhibitor) Late trials BRAF COREAD PMID:20619739;PMID:21163703;PMID:23325582 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Colorectal adenocarcinoma
BRAF:V600. MUT Responsive BRAF (V600) RDientsmann Panitumumab;Dabrafenib;BYL719 EGFR mAb inhibitor;BRAF inhibitor;PI3K inhibitor Panitumumab + Dabrafenib + BYL719 (EGFR mAb inhibitor + BRAF inhibitor + PI3K inhibitor) Approved; Approved;Clinical Trials Early trials BRAF COREAD ENA 2014 (abstr 11LBA) Indirect Colorectal adenocarcinoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Panitumumab;Dabrafenib;Trametinib EGFR mAb inhibitor;BRAF inhibitor;MEK inhibitor Panitumumab + Dabrafenib + Trametinib (EGFR mAb inhibitor + BRAF inhibitor + MEK inhibitor) Approved; Approved;Clinical Trials Early trials BRAF COREAD ASCO 2014 (abstr 3515);ASCO 2015 (abstr 103) Indirect chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Colorectal adenocarcinoma
BRAF:V600E MUT Cell line Responsive BRAF (V600E) MMartínez PLX4720 BRAF inhibitor PLX4720 (BRAF inhibitor) Pre-clinical BRAF MA PMC3638050 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Malignant astrocytoma
BRAF:V600E MUT Responsive BRAF (V600E) MMartínez Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Clinical Trials Early trials BRAF PG NCT01089101 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Pediatric glioma
BRAF:D594G,G469E MUT Responsive BRAF (D594G,G469E) RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Pre-clinical BRAF CM PMID:18794803 chr7:g.140453154T>C c.1781A>G BRAF:D594G CSQN=Missense;reference_codon=GAT;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr7:g.140453153_140453154delATinsCC,chr7:g.140453153_140453154delATinsTC,chr7:g.140453153_140453154delATinsGC;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:D594G,G469E MUT Responsive BRAF (D594G,G469E) RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Pre-clinical BRAF CM PMID:18794803 chr7:g.140481402C>T c.1406G>A BRAF:G469E CSQN=Missense;reference_codon=GGA;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140481401_140481402delTCinsCT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_11] - ENST00000288602 Cutaneous melanoma
BRAF:V600E,V600K MUT Responsive BRAF (V600E,V600K) CRubio-Perez;DTamborero;RDientsmann Trametinib MEK inhibitor Trametinib (MEK inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E,V600K MUT Responsive BRAF (V600E,V600K) CRubio-Perez;DTamborero;RDientsmann Trametinib MEK inhibitor Trametinib (MEK inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136_140453137delACinsTT c.1798_1799delGTinsAA BRAF:V600K CSQN=Missense;reference_codon=GTG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.140453135_140453137delCACinsTTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF::consequence::inframe_deletion:L485.,::inframe_deletion:P490. MUT Resistant BRAF inframe deletion (L485),inframe deletion (P490) RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved Pre-clinical BRAF CANCER PMID:26732095 Any cancer type
BRAF:V600. MUT No Responsive BRAF (V600) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved Early trials BRAF COREAD PMID:26287849 Colorectal adenocarcinoma
BRAF:V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600D,V600K,V600M,V600G,V600R) CRubio-Perez Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF CM NCCN chr7:g.140453135_140453136delCAinsGT c.1799_1800delTGinsAC BRAF:V600D CSQN=Missense;reference_codon=GTG;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsAT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600D,V600K,V600M,V600G,V600R) CRubio-Perez Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF CM NCCN chr7:g.140453136_140453137delACinsTT c.1798_1799delGTinsAA BRAF:V600K CSQN=Missense;reference_codon=GTG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.140453135_140453137delCACinsTTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600D,V600K,V600M,V600G,V600R) CRubio-Perez Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF CM NCCN chr7:g.140453137C>T c.1798G>A BRAF:V600M CSQN=Missense;reference_codon=GTG;candidate_codons=ATG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600D,V600K,V600M,V600G,V600R) CRubio-Perez Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF CM NCCN chr7:g.140453136A>C c.1799T>G BRAF:V600G CSQN=Missense;reference_codon=GTG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsAC,chr7:g.140453135_140453136delCAinsTC,chr7:g.140453135_140453136delCAinsGC;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600D,V600K,V600M,V600G,V600R) CRubio-Perez Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF CM NCCN chr7:g.140453136_140453137delACinsCT c.1798_1799delGTinsAG BRAF:V600R CSQN=Missense;reference_codon=GTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453136_140453137delACinsCG,chr7:g.140453135_140453137delCACinsTCT,chr7:g.140453135_140453137delCACinsTCG,chr7:g.140453135_140453137delCACinsGCG,chr7:g.140453135_140453137delCACinsACG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved Case report BRAF LUAD;HCL;MYMA PMID:22743296;PMID:22621641;PMID:23612012 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Lung adenocarcinoma;Hairy-Cell leukemia;Myeloma
BRAF:V600E MUT Responsive BRAF (V600E) MMartínez Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved Early trials BRAF MA PMID:22586120 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Malignant astrocytoma
BRAF:V600E MUT Responsive BRAF (V600E) CRubio-Perez;DTamborero;RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E MUT Responsive BRAF (V600E) RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved Early trials BRAF THCA PMID:22608338;PMID:20818844;PMID:23489023 chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Thyroid carcinoma
BRAF:V600E,V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600E,V600D,V600K,V600M,V600G,V600R) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF NSCLC;HISLC;HISEC PMID:26287849 Indirect chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF:V600E,V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600E,V600D,V600K,V600M,V600G,V600R) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF NSCLC;HISLC;HISEC PMID:26287849 Indirect chr7:g.140453135_140453136delCAinsGT c.1799_1800delTGinsAC BRAF:V600D CSQN=Missense;reference_codon=GTG;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsAT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF:V600E,V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600E,V600D,V600K,V600M,V600G,V600R) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF NSCLC;HISLC;HISEC PMID:26287849 Indirect chr7:g.140453136_140453137delACinsTT c.1798_1799delGTinsAA BRAF:V600K CSQN=Missense;reference_codon=GTG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.140453135_140453137delCACinsTTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF:V600E,V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600E,V600D,V600K,V600M,V600G,V600R) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF NSCLC;HISLC;HISEC PMID:26287849 Indirect chr7:g.140453137C>T c.1798G>A BRAF:V600M CSQN=Missense;reference_codon=GTG;candidate_codons=ATG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF:V600E,V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600E,V600D,V600K,V600M,V600G,V600R) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF NSCLC;HISLC;HISEC PMID:26287849 Indirect chr7:g.140453136A>C c.1799T>G BRAF:V600G CSQN=Missense;reference_codon=GTG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsAC,chr7:g.140453135_140453136delCAinsTC,chr7:g.140453135_140453136delCAinsGC;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF:V600E,V600D,V600K,V600M,V600G,V600R MUT Responsive BRAF (V600E,V600D,V600K,V600M,V600G,V600R) DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Approved NCCN guidelines BRAF NSCLC;HISLC;HISEC PMID:26287849 Indirect chr7:g.140453136_140453137delACinsCT c.1798_1799delGTinsAG BRAF:V600R CSQN=Missense;reference_codon=GTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.140453136_140453137delACinsCG,chr7:g.140453135_140453137delCACinsTCT,chr7:g.140453135_140453137delCACinsTCG,chr7:g.140453135_140453137delCACinsGCG,chr7:g.140453135_140453137delCACinsACG;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Non-small cell lung;Lagerhans cell histiocytosis;Erdheim-Chester histiocytosis
BRAF:V600E,V600K MUT Responsive BRAF (V600E,V600K) RDientsmann Vemurafenib;Cobimetinib BRAF inhibitor;MEK inhibitor Vemurafenib + Cobimetinib (BRAF inhibitor + MEK inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136A>T c.1799T>A BRAF:V600E CSQN=Missense;reference_codon=GTG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.140453135_140453136delCAinsTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRAF:V600E,V600K MUT Responsive BRAF (V600E,V600K) RDientsmann Vemurafenib;Cobimetinib BRAF inhibitor;MEK inhibitor Vemurafenib + Cobimetinib (BRAF inhibitor + MEK inhibitor) Approved FDA guidelines BRAF CM FDA chr7:g.140453136_140453137delACinsTT c.1798_1799delGTinsAA BRAF:V600K CSQN=Missense;reference_codon=GTG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.140453135_140453137delCACinsTTT;aliases=ENSP00000288602;source=Ensembl inside_[cds_in_exon_15] - ENST00000288602 Cutaneous melanoma
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann [] [PARP inhibitor;Chemotherapy] PARP inhibitor + Chemotherapys Early trials BRCA1 OV PMID:22307137;ASCO 2012 (abstr 1009) Ovary
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Case report BRCA1 PA PMID:25366685;PMID:25719666;PMID:19553641;PMID:25366685 Pancreas
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann [] [WEE1 inhibitor] WEE1 inhibitors Case report BRCA1 CANCER PMID:25964244 Any cancer type
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann;JAlbanell [Olaparib] [PARP inhibitor] PARP inhibitors (Olaparib,etc) Early trials BRCA1 BRCA PMID:20609467;PMID:25366685 Breast adenocarcinoma
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Early trials BRCA1 PRAD PMID:26510020 Prostate adenocarcinoma
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Approved FDA guidelines BRCA1 OV FDA Ovary
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann Platinum Agent Chemotherapy Platinum Agent (Chemotherapy) Early trials BRCA1 BRCA PMID:25847936 Breast adenocarcinoma
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann Platinum Agent Chemotherapy Platinum Agent (Chemotherapy) Late trials BRCA1 OV PMID:22406760;PMID:22711857 Ovary
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann Rucaparib PARP inhibitor Rucaparib (PARP inhibitor) FDA guidelines BRCA1 OV FDA Ovary
BRCA1:. MUT Responsive BRCA1 oncogenic mutation RDientsmann Veliparib;Cisplatin PARP inhibitor;Chemotherapy Veliparib + Cisplatin (PARP inhibitor + Chemotherapy) Early trials BRCA1 BRCA PMID:26801247 Breast adenocarcinoma
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann [] [PARP inhibitor;Chemotherapy] PARP inhibitor + Chemotherapys Early trials BRCA2 OV PMID:22307137;ASCO 2012 (abstr 1009) Ovary
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann [] [PD1 Ab inhibitor] PD1 Ab inhibitors Case report BRCA2 CM PMID:26997480 Cutaneous melanoma
BRCA2:. MUT Responsive BRCA2 oncogenic mutation JAlbanell;ARovira;RDientsmann [Olaparib] [PARP inhibitor] PARP inhibitors (Olaparib,etc) Approved Early trials BRCA2 BRCA PMID:20609467 Indirect Breast adenocarcinoma
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann;ARodriguez-Vida Olaparib PARP inhibitor Olaparib (PARP inhibitor) Approved Early trials BRCA2 PRAD PMID:26510020;NCT01682772;http:https://cancerres.aacrjournals.org/content/75/15_Supplement/CT322 Indirect Prostate adenocarcinoma
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Approved FDA guidelines BRCA2 OV FDA Ovary
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann Platinum Agent Chemotherapy Platinum Agent (Chemotherapy) Early trials BRCA2 BRCA PMID:25847936 Breast adenocarcinoma
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann Platinum Agent Chemotherapy Platinum Agent (Chemotherapy) Late trials BRCA2 OV PMID:22406760;PMID:22711857 Ovary
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann Platinum Agent Chemotherapy Platinum Agent (Chemotherapy) Case report BRCA2 PA PMID:25719666 Pancreas
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann Rucaparib PARP inhibitor Rucaparib (PARP inhibitor) FDA guidelines BRCA2 OV FDA Ovary
BRCA2:. MUT Responsive BRCA2 oncogenic mutation RDientsmann Veliparib;Cisplatin PARP inhibitor;Chemotherapy Veliparib + Cisplatin (PARP inhibitor + Chemotherapy) Early trials BRCA2 BRCA PMID:26801247 Breast adenocarcinoma
BTK:C481. MUT Resistant BTK (C481) RDientsmann Ibrutinib BTK inhibitor Ibrutinib (BTK inhibitor) Case report BTK MCL PMID:25082755 Mantle cell lymphoma
BTK:C481S MUT Resistant BTK (C481S) RDientsmann Ibrutinib BTK inhibitor Ibrutinib (BTK inhibitor) Early trials BTK CLL PMID:24869598;PMID:27199251 chrX:g.100611165A>T c.1441T>A BTK:C481S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chrX:g.100611164C>G;candidate_mnv_variants=chrX:g.100611163_100611165delGCAinsACT,chrX:g.100611163_100611164delGCinsAG,chrX:g.100611163_100611164delGCinsCG,chrX:g.100611163_100611164delGCinsTG;aliases=ENSP00000308176;source=Ensembl inside_[cds_in_exon_15] - ENST00000308731 Chronic lymphocytic leukemia
CBL:Y371H,C384R MUT Responsive CBL (Y371H,C384R) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical CBL MDPS PMID:23696637 chr11:g.119148891T>C c.1111T>C CBL:Y371H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr11:g.119148891_119148893delTACinsCAT;aliases=ENSP00000264033;source=Ensembl inside_[cds_in_exon_8] + ENST00000264033 Myelodisplasic proliferative syndrome
CBL:Y371H,C384R MUT Responsive CBL (Y371H,C384R) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical CBL MDPS PMID:23696637 chr11:g.119148930T>C c.1150T>C CBL:C384R CSQN=Missense;reference_codon=TGT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr11:g.119148930_119148932delTGTinsAGG,chr11:g.119148930_119148932delTGTinsAGA,chr11:g.119148930_119148932delTGTinsCGA,chr11:g.119148930_119148932delTGTinsCGC,chr11:g.119148930_119148932delTGTinsCGG;aliases=ENSP00000264033;source=Ensembl inside_[cds_in_exon_8] + ENST00000264033 Myelodisplasic proliferative syndrome
CBL:Y371H,C384R MUT Responsive CBL (Y371H,C384R) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical CBL MDPS PMID:23696637 chr11:g.119148891T>C c.1111T>C CBL:Y371H CSQN=Missense;reference_codon=TAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr11:g.119148891_119148893delTACinsCAT;aliases=ENSP00000264033;source=Ensembl inside_[cds_in_exon_8] + ENST00000264033 Myelodisplasic proliferative syndrome
CBL:Y371H,C384R MUT Responsive CBL (Y371H,C384R) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical CBL MDPS PMID:23696637 chr11:g.119148930T>C c.1150T>C CBL:C384R CSQN=Missense;reference_codon=TGT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr11:g.119148930_119148932delTGTinsAGG,chr11:g.119148930_119148932delTGTinsAGA,chr11:g.119148930_119148932delTGTinsCGA,chr11:g.119148930_119148932delTGTinsCGC,chr11:g.119148930_119148932delTGTinsCGG;aliases=ENSP00000264033;source=Ensembl inside_[cds_in_exon_8] + ENST00000264033 Myelodisplasic proliferative syndrome
CDH1:. MUT Responsive CDH1 oncogenic mutation RDientsmann Bicalutamide AR inhibitor Bicalutamide (AR inhibitor) Pre-clinical CDH1 BRCA PMID:27397505 Breast adenocarcinoma
CDK12:. MUT Responsive CDK12 oncogenic mutation RDientsmann [] [PARP inhibitors] PARP inhibitors Pre-clinical CDK12 OV PMID:24240700;PMID:24554720 Ovary
CDK4:. MUT Responsive CDK4 oncogenic mutation CRubio-Perez;DTamborero LEE011 CDK4/6 inhibitor LEE011 (CDK4/6 inhibitor) Clinical Trials Early trials CDK4 LIP;LY;CANCER NCT02187783;NCT01237236; http:https://meetinglibrary.asco.org/content/83791-102 Direct Liposarcoma;Lymphoma;Any cancer type
CDK6:. MUT Responsive CDK6 oncogenic mutation CRubio-Perez;DTamborero LEE011 CDK4/6 inhibitor LEE011 (CDK4/6 inhibitor) Clinical Trials Early trials CDK6 LIP;LY;CANCER NCT02187783;NCT01237236 Direct Liposarcoma;Lymphoma;Any cancer type
CDKN1A:. MUT Responsive CDKN1A oncogenic mutation RDientsmann [] [CDK2/4 inhibitor] CDK2/4 inhibitors Pre-clinical CDKN1A CANCER PMID:22471707;PMID:22997239 Any cancer type
CDKN1B:. MUT Responsive CDKN1B oncogenic mutation RDientsmann [] [CDK2/4 inhibitor] CDK2/4 inhibitors Pre-clinical CDKN1B CANCER PMID:22471707 Any cancer type
CDKN2A:. MUT Responsive CDKN2A oncogenic mutation RDientsmann [] [CDK4/6 inhibitor] CDK4/6 inhibitors Case report CDKN2A CM ASCO 2013 (abstr 2500) Cutaneous melanoma
CDKN2A:. MUT Responsive CDKN2A oncogenic mutation RDientsmann [] [CDK4/6 inhibitor] CDK4/6 inhibitors Pre-clinical CDKN2A G;CANCER PMID:22471707;PMID:22586120;PMID:22711607 Glioma;Any cancer type
CDKN2A:. MUT Responsive CDKN2A oncogenic mutation CRubio-Perez;DTamborero Ilorasertib AURKA-VEGF inhibitor Ilorasertib (AURKA-VEGF inhibitor) Clinical Trials Early trials CDKN2A CANCER NCT02478320 Indirect Any cancer type
CDKN2B:. MUT Responsive CDKN2B oncogenic mutation RDientsmann [] [CDK4/6 inhibitor] CDK4/6 inhibitors Pre-clinical CDKN2B G;CANCER PMID:22471707;PMID:22711607 Glioma;Any cancer type
CDKN2C:. MUT Responsive CDKN2C oncogenic mutation RDientsmann [] [CDK2 inhibitor] CDK2 inhibitors Pre-clinical CDKN2C G;CANCER PMID:22471707;PMID:22997239;PMID:22711607 Glioma;Any cancer type
CHEK2:. MUT Responsive CHEK2 oncogenic mutation RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Early trials CHEK2 PRAD PMID:26510020;AACR 2015 (abstr CT322) Prostate adenocarcinoma
CRBN:. MUT Resistant CRBN oncogenic mutation DTamborero Lenalidomide Immunomodulator Lenalidomide (Immunomodulator) Case report CRBN MYMA PMID:25108355 Myeloma
CRBN:Q100*,R283K MUT Resistant CRBN (Q100*,R283K) DTamborero Lenalidomide Immunomodulator Lenalidomide (Immunomodulator) Case report CRBN MYMA PMID:23480694 chr3:g.3215822G>A c.298C>T CRBN:Q100* CSQN=Nonsense;reference_codon=CAG;candidate_codons=TAA,TAG,TGA;candidate_mnv_variants=chr3:g.3215820_3215822delCTGinsTTA,chr3:g.3215820_3215822delCTGinsTCA;aliases=ENSP00000231948;source=Ensembl inside_[cds_in_exon_3] - ENST00000231948 Myeloma
CRBN:Q100*,R283K MUT Resistant CRBN (Q100*,R283K) DTamborero Lenalidomide Immunomodulator Lenalidomide (Immunomodulator) Case report CRBN MYMA PMID:23480694 chr3:g.3195747C>T c.848G>A CRBN:R283K CSQN=Missense;reference_codon=AGA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr3:g.3195746_3195747delTCinsCT;aliases=ENSP00000231948;source=Ensembl inside_[cds_in_exon_8] - ENST00000231948 Myeloma
CRBN:. MUT Resistant CRBN oncogenic mutation DTamborero Pomalidomide Immunomodulator Pomalidomide (Immunomodulator) Case report CRBN MYMA PMID:25108355 Myeloma
CRBN:Q100*,R283K MUT Resistant CRBN (Q100*,R283K) DTamborero Pomalidomide Immunomodulator Pomalidomide (Immunomodulator) Case report CRBN MYMA PMID:23480694 chr3:g.3215822G>A c.298C>T CRBN:Q100* CSQN=Nonsense;reference_codon=CAG;candidate_codons=TAA,TAG,TGA;candidate_mnv_variants=chr3:g.3215820_3215822delCTGinsTTA,chr3:g.3215820_3215822delCTGinsTCA;aliases=ENSP00000231948;source=Ensembl inside_[cds_in_exon_3] - ENST00000231948 Myeloma
CRBN:Q100*,R283K MUT Resistant CRBN (Q100*,R283K) DTamborero Pomalidomide Immunomodulator Pomalidomide (Immunomodulator) Case report CRBN MYMA PMID:23480694 chr3:g.3195747C>T c.848G>A CRBN:R283K CSQN=Missense;reference_codon=AGA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr3:g.3195746_3195747delTCinsCT;aliases=ENSP00000231948;source=Ensembl inside_[cds_in_exon_8] - ENST00000231948 Myeloma
CSF1R:Y571D MUT Responsive CSF1R (Y571D) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical CSF1R MDPS PMID:18971950 chr5:g.149441328A>C c.1711T>G CSF1R:Y571D CSQN=Missense;reference_codon=TAC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr5:g.149441326_149441328delGTAinsATC;aliases=ENSP00000286301;source=Ensembl inside_[cds_in_exon_12] - ENST00000286301 Myelodisplasic proliferative syndrome
CSF3R::consequence::frameshift_variant:D771.,::frameshift_variant:S783. MUT Responsive CSF3R frameshift variant (D771),frameshift variant (S783) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical CSF3R ACML PMID:23656643 Atypical chronic myeloid leukemia
CTNNB1:. MUT Resistant CTNNB1 oncogenic mutation RDientsmann [] [Tankyrase inhibitor] Tankyrase inhibitors Pre-clinical CTNNB1 COREAD PMID:23539443 Colorectal adenocarcinoma
CTNNB1:H36Y,S37C,S37Y,D32V MUT Responsive CTNNB1 (H36Y,S37C,S37Y,D32V) RDientsmann Everolimus;Letrozole MTOR inhibitor;Hormonal therapy Everolimus + Letrozole (MTOR inhibitor + Hormonal therapy) Early trials CTNNB1 ED PMID:25624430 chr3:g.41266109C>T c.106C>T CTNNB1:H36Y CSQN=Missense;reference_codon=CAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr3:g.41266109_41266111delCATinsTAC;aliases=ENSP00000344456;source=Ensembl inside_[cds_in_exon_3] + ENST00000349496 Endometrium
CTNNB1:H36Y,S37C,S37Y,D32V MUT Responsive CTNNB1 (H36Y,S37C,S37Y,D32V) RDientsmann Everolimus;Letrozole MTOR inhibitor;Hormonal therapy Everolimus + Letrozole (MTOR inhibitor + Hormonal therapy) Early trials CTNNB1 ED PMID:25624430 chr3:g.41266113C>G c.110C>G CTNNB1:S37C CSQN=Missense;reference_codon=TCT;candidate_codons=TGT,TGC;candidate_mnv_variants=chr3:g.41266113_41266114delCTinsGC;aliases=ENSP00000344456;source=Ensembl inside_[cds_in_exon_3] + ENST00000349496 Endometrium
CTNNB1:H36Y,S37C,S37Y,D32V MUT Responsive CTNNB1 (H36Y,S37C,S37Y,D32V) RDientsmann Everolimus;Letrozole MTOR inhibitor;Hormonal therapy Everolimus + Letrozole (MTOR inhibitor + Hormonal therapy) Early trials CTNNB1 ED PMID:25624430 chr3:g.41266113C>A c.110C>A CTNNB1:S37Y CSQN=Missense;reference_codon=TCT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr3:g.41266113_41266114delCTinsAC;aliases=ENSP00000344456;source=Ensembl inside_[cds_in_exon_3] + ENST00000349496 Endometrium
CTNNB1:H36Y,S37C,S37Y,D32V MUT Responsive CTNNB1 (H36Y,S37C,S37Y,D32V) RDientsmann Everolimus;Letrozole MTOR inhibitor;Hormonal therapy Everolimus + Letrozole (MTOR inhibitor + Hormonal therapy) Early trials CTNNB1 ED PMID:25624430 chr3:g.41266098A>T c.95A>T CTNNB1:D32V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr3:g.41266098_41266099delACinsTA,chr3:g.41266098_41266099delACinsTG,chr3:g.41266098_41266099delACinsTT;aliases=ENSP00000344456;source=Ensembl inside_[cds_in_exon_3] + ENST00000349496 Endometrium
DDR2:I638F,L239R,G253C,G774V,L63V,G505S MUT Responsive DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical DDR2 LUSC PMID:22328973 chr1:g.162745497A>T c.1912A>T DDR2:I638F CSQN=Missense;reference_codon=ATC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr1:g.162745497_162745499delATCinsTTT;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_16] + ENST00000367922 Lung squamous cell
DDR2:I638F,L239R,G253C,G774V,L63V,G505S MUT Responsive DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical DDR2 LUSC PMID:22328973 chr1:g.162729630T>G c.716T>G DDR2:L239R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr1:g.162729629_162729630delCTinsAG,chr1:g.162729630_162729631delTGinsGA,chr1:g.162729630_162729631delTGinsGC,chr1:g.162729630_162729631delTGinsGT,chr1:g.162729629_162729631delCTGinsAGA;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_9] + ENST00000367922 Lung squamous cell
DDR2:I638F,L239R,G253C,G774V,L63V,G505S MUT Responsive DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical DDR2 LUSC PMID:22328973 chr1:g.162729671G>T c.757G>T DDR2:G253C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr1:g.162729671_162729673delGGCinsTGT;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_9] + ENST00000367922 Lung squamous cell
DDR2:I638F,L239R,G253C,G774V,L63V,G505S MUT Responsive DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical DDR2 LUSC PMID:22328973 chr1:g.162748407G>T c.2321G>T DDR2:G774V CSQN=Missense;reference_codon=GGG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr1:g.162748407_162748408delGGinsTA,chr1:g.162748407_162748408delGGinsTC,chr1:g.162748407_162748408delGGinsTT;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_18] + ENST00000367922 Lung squamous cell
DDR2:I638F,L239R,G253C,G774V,L63V,G505S MUT Responsive DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical DDR2 LUSC PMID:22328973 chr1:g.162724415C>G c.187C>G DDR2:L63V CSQN=Missense;reference_codon=CTG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr1:g.162724415_162724417delCTGinsGTA,chr1:g.162724415_162724417delCTGinsGTC,chr1:g.162724415_162724417delCTGinsGTT;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_6] + ENST00000367922 Lung squamous cell
DDR2:I638F,L239R,G253C,G774V,L63V,G505S MUT Responsive DDR2 (I638F,L239R,G253C,G774V,L63V,G505S) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical DDR2 LUSC PMID:22328973 chr1:g.162741822G>A c.1513G>A DDR2:G505S CSQN=Missense;reference_codon=GGT;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr1:g.162741822_162741824delGGTinsAGC,chr1:g.162741822_162741823delGGinsTC,chr1:g.162741822_162741824delGGTinsTCG,chr1:g.162741822_162741824delGGTinsTCC,chr1:g.162741822_162741824delGGTinsTCA;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_14] + ENST00000367922 Lung squamous cell
DDR2:S768R MUT Responsive DDR2 (S768R) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Case report DDR2 LUSC PMID:22328973 chr1:g.162748390T>G c.2304T>G DDR2:S768R CSQN=Missense;reference_codon=AGT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.162748390T>A,chr1:g.162748388A>C;candidate_mnv_variants=chr1:g.162748388_162748390delAGTinsCGA,chr1:g.162748388_162748390delAGTinsCGC,chr1:g.162748388_162748390delAGTinsCGG;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_18] + ENST00000367922 Lung squamous cell
DDR2:S768R MUT Responsive DDR2 (S768R) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Case report DDR2 LUSC PMID:22328973 chr1:g.162748390T>G c.2304T>G DDR2:S768R CSQN=Missense;reference_codon=AGT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.162748390T>A,chr1:g.162748388A>C;candidate_mnv_variants=chr1:g.162748388_162748390delAGTinsCGA,chr1:g.162748388_162748390delAGTinsCGC,chr1:g.162748388_162748390delAGTinsCGG;aliases=ENSP00000356899;source=Ensembl inside_[cds_in_exon_18] + ENST00000367922 Lung squamous cell
DNMT3A:. MUT Responsive DNMT3A oncogenic mutation RDientsmann Daunorubicin Chemotherapy Daunorubicin (Chemotherapy) Approved FDA guidelines DNMT3A AML PMID:22417203 Acute myeloid leukemia
DPYD::consequence::splice_donor_variant:. MUT Increased Toxicity DPYD splice donor variant DTamborero;CRubio-Perez Capecitabine Fluoropyrimidine Capecitabine (Fluoropyrimidine) Approved FDA guidelines DPYD CANCER FDA Any cancer type
DPYD:I560S,D949V MUT Increased Toxicity DPYD (I560S,D949V) DTamborero;CRubio-Perez Capecitabine Fluoropyrimidine Capecitabine (Fluoropyrimidine) Approved FDA guidelines DPYD CANCER FDA chr1:g.97981343A>C c.1679T>G DPYD:I560S CSQN=Missense;reference_codon=ATT;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr1:g.97981342_97981343delAAinsGC,chr1:g.97981343_97981344delATinsGA,chr1:g.97981342_97981344delAATinsCGA,chr1:g.97981342_97981344delAATinsGGA,chr1:g.97981342_97981344delAATinsTGA;aliases=ENSP00000359211;source=Ensembl inside_[cds_in_exon_13] - ENST00000370192 Any cancer type
DPYD:I560S,D949V MUT Increased Toxicity DPYD (I560S,D949V) DTamborero;CRubio-Perez Capecitabine Fluoropyrimidine Capecitabine (Fluoropyrimidine) Approved FDA guidelines DPYD CANCER FDA chr1:g.97547947T>A c.2846A>T DPYD:D949V CSQN=Missense;reference_codon=GAT;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr1:g.97547946_97547947delATinsTA,chr1:g.97547946_97547947delATinsGA,chr1:g.97547946_97547947delATinsCA;aliases=ENSP00000359211;source=Ensembl inside_[cds_in_exon_22] - ENST00000370192 Any cancer type
DPYD::consequence::splice_donor_variant:. MUT Increased Toxicity DPYD splice donor variant DTamborero;CRubio-Perez Flourouracil Fluoropyrimidine Flourouracil (Fluoropyrimidine) Approved FDA guidelines DPYD CANCER FDA Any cancer type
DPYD:I560S,D949V MUT Increased Toxicity DPYD (I560S,D949V) DTamborero;CRubio-Perez Flourouracil Fluoropyrimidine Flourouracil (Fluoropyrimidine) Approved FDA guidelines DPYD CANCER FDA chr1:g.97981343A>C c.1679T>G DPYD:I560S CSQN=Missense;reference_codon=ATT;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr1:g.97981342_97981343delAAinsGC,chr1:g.97981343_97981344delATinsGA,chr1:g.97981342_97981344delAATinsCGA,chr1:g.97981342_97981344delAATinsGGA,chr1:g.97981342_97981344delAATinsTGA;aliases=ENSP00000359211;source=Ensembl inside_[cds_in_exon_13] - ENST00000370192 Any cancer type
DPYD:I560S,D949V MUT Increased Toxicity DPYD (I560S,D949V) DTamborero;CRubio-Perez Flourouracil Fluoropyrimidine Flourouracil (Fluoropyrimidine) Approved FDA guidelines DPYD CANCER FDA chr1:g.97547947T>A c.2846A>T DPYD:D949V CSQN=Missense;reference_codon=GAT;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr1:g.97547946_97547947delATinsTA,chr1:g.97547946_97547947delATinsGA,chr1:g.97547946_97547947delATinsCA;aliases=ENSP00000359211;source=Ensembl inside_[cds_in_exon_22] - ENST00000370192 Any cancer type
DPYD::consequence::splice_donor_variant:. MUT Increased Toxicity DPYD splice donor variant DTamborero;CRubio-Perez Tegafur Fluoropyrimidine Tegafur (Fluoropyrimidine) Approved CPIC guidelines DPYD CANCER PMID:23988873 Any cancer type
DPYD:I560S,D949V MUT Increased Toxicity DPYD (I560S,D949V) DTamborero;CRubio-Perez Tegafur Fluoropyrimidine Tegafur (Fluoropyrimidine) Approved CPIC guidelines DPYD CANCER PMID:23988873 chr1:g.97981343A>C c.1679T>G DPYD:I560S CSQN=Missense;reference_codon=ATT;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr1:g.97981342_97981343delAAinsGC,chr1:g.97981343_97981344delATinsGA,chr1:g.97981342_97981344delAATinsCGA,chr1:g.97981342_97981344delAATinsGGA,chr1:g.97981342_97981344delAATinsTGA;aliases=ENSP00000359211;source=Ensembl inside_[cds_in_exon_13] - ENST00000370192 Any cancer type
DPYD:I560S,D949V MUT Increased Toxicity DPYD (I560S,D949V) DTamborero;CRubio-Perez Tegafur Fluoropyrimidine Tegafur (Fluoropyrimidine) Approved CPIC guidelines DPYD CANCER PMID:23988873 chr1:g.97547947T>A c.2846A>T DPYD:D949V CSQN=Missense;reference_codon=GAT;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr1:g.97547946_97547947delATinsTA,chr1:g.97547946_97547947delATinsGA,chr1:g.97547946_97547947delATinsCA;aliases=ENSP00000359211;source=Ensembl inside_[cds_in_exon_22] - ENST00000370192 Any cancer type
EGFR::consequence::inframe_deletion:30-336 MUT No Responsive EGFR inframe deletion (30-336) RDientsmann [] [EGFR inhibitor 1st gen] EGFR inhibitor 1st gens Early trials EGFR G PMID:19204207 Glioma
EGFR::consequence::inframe_insertion:762-823 MUT Resistant EGFR exon 20 insertions RDientsmann [] [EGFR inhibitor 1st gen] EGFR inhibitor 1st gens Late trials EGFR L PMID:21764376;PMID:26773740;PMID:26051236 Lung
EGFR:D761Y MUT Resistant EGFR (D761Y) DTamborero [] [EGFR inhibitor 1st gen] EGFR inhibitor 1st gens Case report EGFR NSCLC PMID:19680293 chr7:g.55242511G>T c.2281G>T EGFR:D761Y CSQN=Missense;reference_codon=GAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr7:g.55242511_55242513delGATinsTAC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Non-small cell lung
EGFR:T790M MUT Resistant EGFR (T790M) DTamborero [] [EGFR inhibitor 1st gen] EGFR inhibitor 1st gens Late trials EGFR NSCLC PMID:19680293 chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR::consequence::inframe_deletion:30-336 MUT No Responsive EGFR inframe deletion (30-336) RDientsmann [] [EGFR inhibitor 2nd gen] EGFR inhibitor 2nd gens Early trials EGFR G PMID:19204207 Glioma
EGFR:T790M MUT Resistant EGFR (T790M) DTamborero [] [EGFR inhibitor 2nd gen] EGFR inhibitor 2nd gens Late trials EGFR NSCLC PMID:22452896 chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR::consequence::inframe_deletion:30-336 MUT No Responsive EGFR inframe deletion (30-336) RDientsmann [] [EGFR inhibitor 3rd gen] EGFR inhibitor 3rd gens Early trials EGFR G PMID:19204207 Glioma
EGFR:T790M MUT Responsive EGFR (T790M) RDientsmann [] [EGFR inhibitor 3rd gen] EGFR inhibitor 3rd gens Early trials EGFR L ASCO 2014 (abstr 8009);ENA 2014 (abstr 10LBA);ENA 2014 (abstr 9LBA);ASCO 2015 (abstr 8001) chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR::consequence::inframe_insertion:729-761 MUT Responsive EGFR exon 19 insertions RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [EGFR TK inhibitor] EGFR TK inhibitors Late trials EGFR L PMID:22753918 chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR::consequence::inframe_insertion:729-761 MUT Responsive EGFR exon 19 insertions RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) Lung
EGFR::consequence::inframe_insertion:762-823 MUT Responsive EGFR exon 20 insertions RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Case report EGFR L ASCO 2014 (abstr 8015) Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:T790M MUT Responsive EGFR (T790M) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials EGFR L ESMO 2012 (abstr 4380) chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR::consequence::inframe_insertion:729-761 MUT Responsive EGFR exon 19 insertions RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R,T790M) RDientsmann [] [MEK inhibitor (alone or in combination)] MEK inhibitor (alone or in combination)s Pre-clinical EGFR L PMID:23102728 chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:S492R MUT Responsive EGFR (S492R) RDientsmann [] [novel EGFR mAb inhibitor] novel EGFR mAb inhibitors Early trials EGFR COREAD PMID:25962717 chr7:g.55228009C>G c.1476C>G EGFR:S492R CSQN=Missense;reference_codon=AGC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr7:g.55228009C>A,chr7:g.55228007A>C;candidate_mnv_variants=chr7:g.55228007_55228009delAGCinsCGA,chr7:g.55228007_55228009delAGCinsCGG,chr7:g.55228007_55228009delAGCinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:T790M MUT Responsive EGFR (T790M) CRubio-Perez;RDientsmann [Rociletinib,HM61713] [EGFR inhibitor 3rd gen] EGFR inhibitor 3rd gens (Rociletinib,HM61713,etc) Late trials EGFR NSCLC NCT02322281 chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR::consequence::inframe_deletion:729-761 MUT Responsive EGFR exon 19 deletions RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA Non-small cell lung
EGFR::consequence::inframe_insertion:729-761 MUT Responsive EGFR exon 19 insertions RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Late trials EGFR L PMID:22753918;PMID:25589191 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:T790M MUT Resistant EGFR (T790M) RDientsmann Afatinib ERBB2 inhibitor&EGFR inhibitor 2nd gen Afatinib (ERBB2 inhibitor&EGFR inhibitor 2nd gen) NCCN/CAP guidelines EGFR L NCCN chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR::consequence::inframe_insertion:729-761 MUT Responsive EGFR exon 19 insertions RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861R) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L ESMO 2012 (abstr 1289) chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:T790M MUT Responsive EGFR (T790M) RDientsmann Afatinib;Cetuximab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Cetuximab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L PMID:25074459 chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:T790M MUT Responsive EGFR (T790M) RDientsmann Afatinib;Nimotuzumab ERBB2 inhibitor&EGFR inhibitor 2nd gen;EGFR mAb inhibitor Afatinib + Nimotuzumab (ERBB2 inhibitor&EGFR inhibitor 2nd gen + EGFR mAb inhibitor) Early trials EGFR L PMID:26667485 chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:P546S MUT Responsive EGFR (P546S) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Case report EGFR HNC PMID:23578570 chr7:g.55231430C>T c.1636C>T EGFR:P546S CSQN=Missense;reference_codon=CCA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55231430_55231432delCCAinsTCT,chr7:g.55231430_55231432delCCAinsTCG,chr7:g.55231430_55231432delCCAinsTCC,chr7:g.55231430_55231432delCCAinsAGC,chr7:g.55231430_55231432delCCAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_14] + ENST00000275493 Head an neck
EGFR:S464L,G465R,I491M MUT Resistant EGFR (S464L,G465R,I491M) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Approved Pre-clinical EGFR COREAD PMID:25623215 chr7:g.55227924C>T c.1391C>T EGFR:S464L CSQN=Missense;reference_codon=TCA;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr7:g.55227923_55227924delTCinsCT,chr7:g.55227924_55227925delCAinsTG,chr7:g.55227923_55227925delTCAinsCTT,chr7:g.55227923_55227925delTCAinsCTG,chr7:g.55227923_55227925delTCAinsCTC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S464L,G465R,I491M MUT Resistant EGFR (S464L,G465R,I491M) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Approved Pre-clinical EGFR COREAD PMID:25623215 chr7:g.55227926G>A c.1393G>A EGFR:G465R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr7:g.55227926G>C;candidate_mnv_variants=chr7:g.55227926_55227928delGGAinsAGG,chr7:g.55227926_55227928delGGAinsCGC,chr7:g.55227926_55227928delGGAinsCGG,chr7:g.55227926_55227928delGGAinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S464L,G465R,I491M MUT Resistant EGFR (S464L,G465R,I491M) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Approved Pre-clinical EGFR COREAD PMID:25623215 chr7:g.55228006A>G c.1473A>G EGFR:I491M CSQN=Missense;reference_codon=ATA;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S492R,G465R,R451C,K467T MUT Resistant EGFR (S492R,G465R,R451C,K467T) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Case report EGFR COREAD PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827 chr7:g.55228009C>G c.1476C>G EGFR:S492R CSQN=Missense;reference_codon=AGC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr7:g.55228009C>A,chr7:g.55228007A>C;candidate_mnv_variants=chr7:g.55228007_55228009delAGCinsCGA,chr7:g.55228007_55228009delAGCinsCGG,chr7:g.55228007_55228009delAGCinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S492R,G465R,R451C,K467T MUT Resistant EGFR (S492R,G465R,R451C,K467T) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Case report EGFR COREAD PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827 chr7:g.55227926G>A c.1393G>A EGFR:G465R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr7:g.55227926G>C;candidate_mnv_variants=chr7:g.55227926_55227928delGGAinsAGG,chr7:g.55227926_55227928delGGAinsCGC,chr7:g.55227926_55227928delGGAinsCGG,chr7:g.55227926_55227928delGGAinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S492R,G465R,R451C,K467T MUT Resistant EGFR (S492R,G465R,R451C,K467T) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Case report EGFR COREAD PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827 chr7:g.55227884C>T c.1351C>T EGFR:R451C CSQN=Missense;reference_codon=CGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55227884_55227886delCGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S492R,G465R,R451C,K467T MUT Resistant EGFR (S492R,G465R,R451C,K467T) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Case report EGFR COREAD PMID:22270724;PMID:26059438;PMID:25623215;PMID:22270724;PMID:26888827 chr7:g.55227933A>C c.1400A>C EGFR:K467T CSQN=Missense;reference_codon=AAA;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr7:g.55227933_55227934delAAinsCG,chr7:g.55227933_55227934delAAinsCT,chr7:g.55227933_55227934delAAinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:P753S MUT Responsive EGFR (P753S) RDientsmann Cetuximab;Sirolimus EGFR mAb inhibitor;MTOR inhibitor Cetuximab + Sirolimus (EGFR mAb inhibitor + MTOR inhibitor) Case report EGFR HNC PMID:24934779 chr7:g.55242487C>T c.2257C>T EGFR:P753S CSQN=Missense;reference_codon=CCG;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242487_55242489delCCGinsTCT,chr7:g.55242487_55242489delCCGinsTCC,chr7:g.55242487_55242489delCCGinsTCA,chr7:g.55242487_55242489delCCGinsAGC,chr7:g.55242487_55242489delCCGinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Head an neck
EGFR::consequence::inframe_deletion:729-761 MUT Responsive EGFR exon 19 deletions RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA Non-small cell lung
EGFR::consequence::inframe_insertion:729-761 MUT Responsive EGFR exon 19 insertions RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved Early trials EGFR L PMID:22190593 Lung
EGFR::consequence::inframe_insertion:769-770 MUT Responsive EGFR inframe insertion (769-770) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Case report EGFR L PMID:26773740;PMID:23328547 Lung
EGFR:A289V,R108K,G598V,T263P MUT Responsive EGFR (A289V,R108K,G598V,T263P) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved Pre-clinical EGFR G PMID:17177598 chr7:g.55221822C>T c.866C>T EGFR:A289V CSQN=Missense;reference_codon=GCC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr7:g.55221822_55221823delCCinsTA,chr7:g.55221822_55221823delCCinsTG,chr7:g.55221822_55221823delCCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_7] + ENST00000275493 Glioma
EGFR:A289V,R108K,G598V,T263P MUT Responsive EGFR (A289V,R108K,G598V,T263P) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved Pre-clinical EGFR G PMID:17177598 chr7:g.55211080G>A c.323G>A EGFR:R108K CSQN=Missense;reference_codon=AGA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.55211080_55211081delGAinsAG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_3] + ENST00000275493 Glioma
EGFR:A289V,R108K,G598V,T263P MUT Responsive EGFR (A289V,R108K,G598V,T263P) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved Pre-clinical EGFR G PMID:17177598 chr7:g.55233043G>T c.1793G>T EGFR:G598V CSQN=Missense;reference_codon=GGA;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr7:g.55233043_55233044delGAinsTC,chr7:g.55233043_55233044delGAinsTG,chr7:g.55233043_55233044delGAinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_15] + ENST00000275493 Glioma
EGFR:A289V,R108K,G598V,T263P MUT Responsive EGFR (A289V,R108K,G598V,T263P) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved Pre-clinical EGFR G PMID:17177598 chr7:g.55221743A>C c.787A>C EGFR:T263P CSQN=Missense;reference_codon=ACC;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55221743_55221745delACCinsCCT,chr7:g.55221743_55221745delACCinsCCG,chr7:g.55221743_55221745delACCinsCCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_7] + ENST00000275493 Glioma
EGFR:K757R,E746G MUT Responsive EGFR (K757R,E746G) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Case report EGFR L PMID:26773740 chr7:g.55242500A>G c.2270A>G EGFR:K757R CSQN=Missense;reference_codon=AAG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55242500_55242501delAGinsGA,chr7:g.55242499_55242500delAAinsCG,chr7:g.55242499_55242501delAAGinsCGA,chr7:g.55242499_55242501delAAGinsCGC,chr7:g.55242499_55242501delAAGinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Lung
EGFR:K757R,E746G MUT Responsive EGFR (K757R,E746G) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Case report EGFR L PMID:26773740 chr7:g.55242467A>G c.2237A>G EGFR:E746G CSQN=Missense;reference_codon=GAA;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr7:g.55242467_55242468delAAinsGT,chr7:g.55242467_55242468delAAinsGG,chr7:g.55242467_55242468delAAinsGC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Lung
EGFR:L858R MUT Responsive EGFR (L858R) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861.,G719.,S768I MUT Responsive EGFR (L858R,L861,G719,S768I) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC NCCN Non-small cell lung
EGFR:S720. MUT No Responsive EGFR (S720) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Case report EGFR L PMID:26773740 Lung
EGFR:T790M MUT Resistant EGFR (T790M) RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) NCCN/CAP guidelines EGFR L NCCN chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR::consequence::inframe_deletion:729-761 MUT Responsive EGFR exon 19 deletions RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA Non-small cell lung
EGFR::consequence::inframe_deletion:L747.,::inframe_insertion:P753PS MUT No Responsive EGFR inframe deletion (L747),inframe insertion (P753PS) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved Case report EGFR HNC PMID:21274259 Head an neck
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L858R,L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55259524T>A c.2582T>A EGFR:L861Q CSQN=Missense;reference_codon=CTG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241708G>C c.2156G>C EGFR:G719A CSQN=Missense;reference_codon=GGC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsCA,chr7:g.55241708_55241709delGCinsCG,chr7:g.55241708_55241709delGCinsCT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241707G>A c.2155G>A EGFR:G719S CSQN=Missense;reference_codon=GGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsAGT,chr7:g.55241707_55241708delGGinsTC,chr7:g.55241707_55241709delGGCinsTCT,chr7:g.55241707_55241709delGGCinsTCG,chr7:g.55241707_55241709delGGCinsTCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241707G>T c.2155G>T EGFR:G719C CSQN=Missense;reference_codon=GGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.55241707_55241709delGGCinsTGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55241708G>A c.2156G>A EGFR:G719D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr7:g.55241708_55241709delGCinsAT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55242470T>C c.2240T>C EGFR:L747S CSQN=Missense;reference_codon=TTA;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr7:g.55242470_55242471delTAinsCT,chr7:g.55242470_55242471delTAinsCG,chr7:g.55242470_55242471delTAinsCC,chr7:g.55242469_55242471delTTAinsAGC,chr7:g.55242469_55242471delTTAinsAGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_19] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55249005G>T c.2303G>T EGFR:S768I CSQN=Missense;reference_codon=AGC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249005_55249006delGCinsTA,chr7:g.55249005_55249006delGCinsTT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55259524T>C c.2582T>C EGFR:L861P CSQN=Missense;reference_codon=CTG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr7:g.55259524_55259525delTGinsCT,chr7:g.55259524_55259525delTGinsCA,chr7:g.55259524_55259525delTGinsCC;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R MUT Responsive EGFR (L861Q,G719A,G719S,G719C,G719D,L747S,S768I,L861P,L861Q,L861R) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved NCCN guidelines EGFR NSCLC FDA chr7:g.55259524T>G c.2582T>G EGFR:L861R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259523_55259524delCTinsAG,chr7:g.55259524_55259525delTGinsGA,chr7:g.55259524_55259525delTGinsGC,chr7:g.55259524_55259525delTGinsGT,chr7:g.55259523_55259525delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Non-small cell lung
EGFR:V843I MUT No Responsive EGFR (V843I) RDientsmann Gefitinib EGFR inhibitor 1st gen Gefitinib (EGFR inhibitor 1st gen) Approved Case report EGFR HNC PMID:21274259 chr7:g.55259469G>A c.2527G>A EGFR:V843I CSQN=Missense;reference_codon=GTA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55259469_55259471delGTAinsATC,chr7:g.55259469_55259471delGTAinsATT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Head an neck
EGFR:E690K MUT Responsive EGFR (E690K) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Approved Case report EGFR ED PMID:22885469 chr7:g.55241620G>A c.2068G>A EGFR:E690K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr7:g.55241620_55241622delGAGinsAAA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_18] + ENST00000275493 Endometrium
EGFR::consequence::inframe_deletion:729-761 MUT Responsive EGFR exon 19 deletions CRubio-Perez Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Approved Early trials EGFR L NCT02465060 Lung
EGFR::consequence::inframe_insertion:762-823 MUT Responsive EGFR exon 20 insertions RDientsmann Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Pre-clinical EGFR L PMID:26515464 Lung
EGFR:C797S MUT Resistant EGFR (C797S) RDientsmann Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Early trials EGFR L PMID:25939061 chr7:g.55249091T>A c.2389T>A EGFR:C797S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chr7:g.55249092G>C;candidate_mnv_variants=chr7:g.55249091_55249093delTGCinsAGT,chr7:g.55249092_55249093delGCinsCT,chr7:g.55249092_55249093delGCinsCG,chr7:g.55249092_55249093delGCinsCA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung
EGFR:L718. MUT Resistant EGFR (L718) RDientsmann Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Early trials EGFR L ASCO 2017 (abstr 2572) Lung
EGFR:L792. MUT Resistant EGFR (L792) RDientsmann Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Early trials EGFR L ASCO 2017 (abstr 2572) Lung
EGFR:L858R MUT Responsive EGFR (L858R) CRubio-Perez Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Approved Early trials EGFR L NCT02465060 chr7:g.55259515T>G c.2573T>G EGFR:L858R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.55259514_55259515delCTinsAG,chr7:g.55259515_55259516delTGinsGA,chr7:g.55259515_55259516delTGinsGC,chr7:g.55259515_55259516delTGinsGT,chr7:g.55259514_55259516delCTGinsAGA;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_21] + ENST00000275493 Lung
EGFR:T790M MUT Responsive EGFR (T790M) RDientsmann Osimertinib EGFR inhibitor 3rd gen Osimertinib (EGFR inhibitor 3rd gen) Approved FDA guidelines EGFR NSCLC FDA chr7:g.55249071C>T c.2369C>T EGFR:T790M CSQN=Missense;reference_codon=ACG;candidate_codons=ATG;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Non-small cell lung
EGFR:G465R MUT Resistant EGFR (G465R) RDientsmann Panitumumab EGFR mAb inhibitor Panitumumab (EGFR mAb inhibitor) Case report EGFR COREAD PMID:26059438 chr7:g.55227926G>A c.1393G>A EGFR:G465R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr7:g.55227926G>C;candidate_mnv_variants=chr7:g.55227926_55227928delGGAinsAGG,chr7:g.55227926_55227928delGGAinsCGC,chr7:g.55227926_55227928delGGAinsCGG,chr7:g.55227926_55227928delGGAinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR:S492R MUT Responsive EGFR (S492R) RDientsmann Panitumumab EGFR mAb inhibitor Panitumumab (EGFR mAb inhibitor) Case report EGFR COREAD PMID:22270724 chr7:g.55228009C>G c.1476C>G EGFR:S492R CSQN=Missense;reference_codon=AGC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr7:g.55228009C>A,chr7:g.55228007A>C;candidate_mnv_variants=chr7:g.55228007_55228009delAGCinsCGA,chr7:g.55228007_55228009delAGCinsCGG,chr7:g.55228007_55228009delAGCinsCGT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_12] + ENST00000275493 Colorectal adenocarcinoma
EGFR::consequence::inframe_deletion:6-273 MUT Responsive EGFR inframe deletion (6-273) MMartínez Rindopepimut Vaccine Rindopepimut (Vaccine) Clinical Trials Late trials EGFR GB NCT01480479 Indirect Glioblastoma
EGFR:L798I MUT Resistant EGFR (L798I) RDientsmann Rociletinib EGFR inhibitor Rociletinib (EGFR inhibitor) Case report EGFR LUAD PMID:27283993 chr7:g.55249094C>A c.2392C>A EGFR:L798I CSQN=Missense;reference_codon=CTC;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.55249094_55249096delCTCinsATA,chr7:g.55249094_55249096delCTCinsATT;aliases=ENSP00000275493;source=Ensembl inside_[cds_in_exon_20] + ENST00000275493 Lung adenocarcinoma
EPHA2:G391R MUT Responsive EPHA2 (G391R) RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical EPHA2 LUSC PMID:20360610 chr1:g.16464489C>T c.1171G>A EPHA2:G391R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.16464489C>G;candidate_mnv_variants=chr1:g.16464487_16464489delTCCinsCCT,chr1:g.16464487_16464489delTCCinsGCG,chr1:g.16464487_16464489delTCCinsCCG,chr1:g.16464487_16464489delTCCinsACG;aliases=ENSP00000351209;source=Ensembl inside_[cds_in_exon_5] - ENST00000358432 Lung squamous cell
EPHA2:G391R MUT Responsive EPHA2 (G391R) RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical EPHA2 LUSC PMID:20360610 chr1:g.16464489C>T c.1171G>A EPHA2:G391R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.16464489C>G;candidate_mnv_variants=chr1:g.16464487_16464489delTCCinsCCT,chr1:g.16464487_16464489delTCCinsGCG,chr1:g.16464487_16464489delTCCinsCCG,chr1:g.16464487_16464489delTCCinsACG;aliases=ENSP00000351209;source=Ensembl inside_[cds_in_exon_5] - ENST00000358432 Lung squamous cell
EPHA2:G391R MUT Responsive EPHA2 (G391R) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical EPHA2 LUSC PMID:20360610 chr1:g.16464489C>T c.1171G>A EPHA2:G391R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.16464489C>G;candidate_mnv_variants=chr1:g.16464487_16464489delTCCinsCCT,chr1:g.16464487_16464489delTCCinsGCG,chr1:g.16464487_16464489delTCCinsCCG,chr1:g.16464487_16464489delTCCinsACG;aliases=ENSP00000351209;source=Ensembl inside_[cds_in_exon_5] - ENST00000358432 Lung squamous cell
EPHA2:G391R MUT Responsive EPHA2 (G391R) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical EPHA2 LUSC PMID:20360610 chr1:g.16464489C>T c.1171G>A EPHA2:G391R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.16464489C>G;candidate_mnv_variants=chr1:g.16464487_16464489delTCCinsCCT,chr1:g.16464487_16464489delTCCinsGCG,chr1:g.16464487_16464489delTCCinsCCG,chr1:g.16464487_16464489delTCCinsACG;aliases=ENSP00000351209;source=Ensembl inside_[cds_in_exon_5] - ENST00000358432 Lung squamous cell
ERBB2::consequence::inframe_insertion:775-881 MUT Responsive ERBB2 proximal exon 20 RDientsmann [Afatinib,Lapatinib,Neratinib] [ERBB2 inhibitor] ERBB2 inhibitors (Afatinib,Lapatinib,Neratinib,etc) Early trials ERBB2 LUAD PMID:26598547 Lung adenocarcinoma
ERBB2::consequence::inframe_insertion:775-881 MUT Responsive ERBB2 proximal exon 20 RDientsmann [Trastuzumab] [ERBB2 mAb inhibitor] ERBB2 mAb inhibitors (Trastuzumab,etc) Early trials ERBB2 LUAD PMID:26598547 Lung adenocarcinoma
ERBB2::consequence::inframe_insertion:A775YVMA,::inframe_insertion:G776VC MUT Responsive ERBB2 inframe insertion (A775YVMA),inframe insertion (G776VC) RDientsmann Ado-Trastuzumab Emtansine ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Early trials ERBB2 L ASCO 2017 (abstr 8510) Lung
ERBB2:V659E,S310F MUT Responsive ERBB2 (V659E,S310F) RDientsmann Ado-Trastuzumab Emtansine ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Early trials ERBB2 L ASCO 2017 (abstr 8510) chr17:g.37879601_37879602delTTinsAG c.1976_1977delTTinsAG ERBB2:V659E CSQN=Missense;reference_codon=GTT;candidate_codons=GAG,GAA;candidate_mnv_variants=chr17:g.37879601_37879602delTTinsAA;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_17] + ENST00000269571 Lung
ERBB2:V659E,S310F MUT Responsive ERBB2 (V659E,S310F) RDientsmann Ado-Trastuzumab Emtansine ERBB2 mAb inhibitor Ado-Trastuzumab Emtansine (ERBB2 mAb inhibitor) Early trials ERBB2 L ASCO 2017 (abstr 8510) chr17:g.37868208C>T c.929C>T ERBB2:S310F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr17:g.37868208_37868209delCCinsTT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Lung
ERBB2::consequence::inframe_insertion:775-881 MUT Responsive ERBB2 proximal exon 20 RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Early trials ERBB2 LUAD PMID:26598547;ASCO 2017 (abstr 9071) Lung adenocarcinoma
ERBB2:T798I MUT Responsive ERBB2 (T798I) RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Pre-clinical ERBB2 BRCA PMID:28274957 chr17:g.37881064C>T c.2393C>T ERBB2:T798I CSQN=Missense;reference_codon=ACA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr17:g.37881064_37881065delCAinsTC,chr17:g.37881064_37881065delCAinsTT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_20] + ENST00000269571 Breast adenocarcinoma
ERBB2:. MUT Responsive ERBB2 oncogenic mutation EArriola Dacomitinib Pan ERBB inhibitor Dacomitinib (Pan ERBB inhibitor) Early trials ERBB2 NSCLC PMID:25899785 Non-small cell lung
ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A MUT Responsive ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37880261G>T c.2305G>T ERBB2:D769Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr17:g.37880261_37880263delGACinsTAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A MUT Responsive ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37880261G>C c.2305G>C ERBB2:D769H CSQN=Missense;reference_codon=GAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr17:g.37880261_37880263delGACinsCAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A MUT Responsive ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37881616C>T c.2686C>T ERBB2:R896C CSQN=Missense;reference_codon=CGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr17:g.37881616_37881618delCGCinsTGT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_22] + ENST00000269571 Breast adenocarcinoma
ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A MUT Responsive ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37881000G>C c.2329G>C ERBB2:V777L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr17:g.37881000G>T;candidate_mnv_variants=chr17:g.37881000_37881002delGTGinsCTT,chr17:g.37881000_37881002delGTGinsCTA,chr17:g.37881000_37881002delGTGinsCTC,chr17:g.37881000_37881002delGTGinsTTA;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_20] + ENST00000269571 Breast adenocarcinoma
ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A MUT Responsive ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37881332G>A c.2524G>A ERBB2:V842I CSQN=Missense;reference_codon=GTA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr17:g.37881332_37881334delGTAinsATC,chr17:g.37881332_37881334delGTAinsATT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_21] + ENST00000269571 Breast adenocarcinoma
ERBB2:D769Y,D769H,R896C,V777L,V842I,G309A MUT Responsive ERBB2 (D769Y,D769H,R896C,V777L,V842I,G309A) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37868205G>C c.926G>C ERBB2:G309A CSQN=Missense;reference_codon=GGA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr17:g.37868205_37868206delGAinsCC,chr17:g.37868205_37868206delGAinsCG,chr17:g.37868205_37868206delGAinsCT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Breast adenocarcinoma
ERBB2:K753E MUT Resistant ERBB2 (K753E) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:27697991 chr17:g.37880213A>G c.2257A>G ERBB2:K753E CSQN=Missense;reference_codon=AAA;candidate_codons=GAG,GAA;candidate_mnv_variants=chr17:g.37880213_37880215delAAAinsGAG;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:V659E MUT Responsive ERBB2 (V659E) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Case report ERBB2 BRCA;LUAD PMID:23950206 chr17:g.37879601_37879602delTTinsAG c.1976_1977delTTinsAG ERBB2:V659E CSQN=Missense;reference_codon=GTT;candidate_codons=GAG,GAA;candidate_mnv_variants=chr17:g.37879601_37879602delTTinsAA;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_17] + ENST00000269571 Breast adenocarcinoma;Lung adenocarcinoma
ERBB2::consequence::inframe_insertion:775-881 MUT Responsive ERBB2 proximal exon 20 RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Early trials ERBB2 LUAD PMID:26598547;ASCO 2017 (abstr 9071) Lung adenocarcinoma
ERBB2::consequence::inframe_deletion:755-759,::inframe_insertion:.780GSP,::inframe_insertion:.781GSP MUT Responsive ERBB2 inframe deletion (755-759),inframe insertion (780GSP),inframe insertion (781GSP) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 Breast adenocarcinoma
ERBB2:. MUT Responsive ERBB2 oncogenic mutation RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Early trials ERBB2 LUAD ESMO 2014 (abstr LBA39_PR) Lung adenocarcinoma
ERBB2:K753E MUT Responsive ERBB2 (K753E) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:27697991 chr17:g.37880213A>G c.2257A>G ERBB2:K753E CSQN=Missense;reference_codon=AAA;candidate_codons=GAG,GAA;candidate_mnv_variants=chr17:g.37880213_37880215delAAAinsGAG;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37880220T>C c.2264T>C ERBB2:L755S CSQN=Missense;reference_codon=TTG;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr17:g.37880220_37880221delTGinsCT,chr17:g.37880220_37880221delTGinsCC,chr17:g.37880220_37880221delTGinsCA,chr17:g.37880219_37880221delTTGinsAGC,chr17:g.37880219_37880221delTTGinsAGT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37868205G>C c.926G>C ERBB2:G309A CSQN=Missense;reference_codon=GGA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr17:g.37868205_37868206delGAinsCC,chr17:g.37868205_37868206delGAinsCG,chr17:g.37868205_37868206delGAinsCT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37880261G>T c.2305G>T ERBB2:D769Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr17:g.37880261_37880263delGACinsTAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37880261G>C c.2305G>C ERBB2:D769H CSQN=Missense;reference_codon=GAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr17:g.37880261_37880263delGACinsCAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37881616C>T c.2686C>T ERBB2:R896C CSQN=Missense;reference_codon=CGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr17:g.37881616_37881618delCGCinsTGT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_22] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37881000G>C c.2329G>C ERBB2:V777L CSQN=Missense;reference_codon=GTG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr17:g.37881000G>T;candidate_mnv_variants=chr17:g.37881000_37881002delGTGinsCTT,chr17:g.37881000_37881002delGTGinsCTA,chr17:g.37881000_37881002delGTGinsCTC,chr17:g.37881000_37881002delGTGinsTTA;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_20] + ENST00000269571 Breast adenocarcinoma
ERBB2:L755S,G309A,D769Y,D769H,R896C,V777L,V842I MUT Responsive ERBB2 (L755S,G309A,D769Y,D769H,R896C,V777L,V842I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Pre-clinical ERBB2 BRCA PMID:23220880 chr17:g.37881332G>A c.2524G>A ERBB2:V842I CSQN=Missense;reference_codon=GTA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr17:g.37881332_37881334delGTAinsATC,chr17:g.37881332_37881334delGTAinsATT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_21] + ENST00000269571 Breast adenocarcinoma
ERBB2::consequence::inframe_insertion:775-881 MUT Responsive ERBB2 proximal exon 20 RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Early trials ERBB2 LUAD PMID:26598547;ASCO 2017 (abstr 9071) Lung adenocarcinoma
ERBB2:L869R MUT Responsive ERBB2 (L869R) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Case report ERBB2 BRCA PMID:28274957 chr17:g.37881414T>G c.2606T>G ERBB2:L869R CSQN=Missense;reference_codon=CTG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr17:g.37881413_37881414delCTinsAG,chr17:g.37881414_37881415delTGinsGA,chr17:g.37881414_37881415delTGinsGC,chr17:g.37881414_37881415delTGinsGT,chr17:g.37881413_37881415delCTGinsAGA;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_21] + ENST00000269571 Breast adenocarcinoma
ERBB2:S310.,L755.,V777. MUT Responsive ERBB2 (S310,L755,V777) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Early trials ERBB2 CANCER AACR 2017 (abstr CT001) Any cancer type
ERBB2::consequence::inframe_insertion:P780GSP,::inframe_insertion:.781GSP,::inframe_insertion:A775YVMA,::inframe_insertion:G776YVMA MUT Responsive ERBB2 inframe insertion (P780GSP),inframe insertion (781GSP),inframe insertion (A775YVMA),inframe insertion (G776YVMA) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Early trials ERBB2 CANCER AACR 2017 (abstr CT001) Any cancer type
ERBB2:T798I MUT Resistant ERBB2 (T798I) RDientsmann Neratinib ERBB2 inhibitor Neratinib (ERBB2 inhibitor) Case report ERBB2 BRCA PMID:28274957 chr17:g.37881064C>T c.2393C>T ERBB2:T798I CSQN=Missense;reference_codon=ACA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr17:g.37881064_37881065delCAinsTC,chr17:g.37881064_37881065delCAinsTT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_20] + ENST00000269571 Breast adenocarcinoma
ERBB2:. MUT Responsive ERBB2 oncogenic mutation RDientsmann Tensirolimus MTOR inhibitor Tensirolimus (MTOR inhibitor) Early trials ERBB2 LUAD ESMO 2014 (abstr LBA39_PR) Lung adenocarcinoma
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37880261G>T c.2305G>T ERBB2:D769Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr17:g.37880261_37880263delGACinsTAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37880261G>C c.2305G>C ERBB2:D769H CSQN=Missense;reference_codon=GAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr17:g.37880261_37880263delGACinsCAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_19] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37881616C>T c.2686C>T ERBB2:R896C CSQN=Missense;reference_codon=CGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr17:g.37881616_37881618delCGCinsTGT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_22] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37868205G>A c.926G>A ERBB2:G309E CSQN=Missense;reference_codon=GGA;candidate_codons=GAG,GAA;candidate_mnv_variants=chr17:g.37868205_37868206delGAinsAG;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37868208C>T c.929C>T ERBB2:S310F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr17:g.37868208_37868209delCCinsTT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37868208C>A c.929C>A ERBB2:S310Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr17:g.37868208_37868209delCCinsAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:D769Y,D769H,R896C,G309E,S310F,S310Y,C311R MUT Responsive ERBB2 (D769Y,D769H,R896C,G309E,S310F,S310Y,C311R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 BRCA;CANCER PMID:23220880;PMID:22908275 chr17:g.37868210T>C c.931T>C ERBB2:C311R CSQN=Missense;reference_codon=TGC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr17:g.37868210_37868212delTGCinsAGG,chr17:g.37868210_37868212delTGCinsAGA,chr17:g.37868210_37868212delTGCinsCGA,chr17:g.37868210_37868212delTGCinsCGG,chr17:g.37868210_37868212delTGCinsCGT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Breast adenocarcinoma;Any cancer type
ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S MUT Responsive ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 CANCER PMID:22908275 chr17:g.37868205G>A c.926G>A ERBB2:G309E CSQN=Missense;reference_codon=GGA;candidate_codons=GAG,GAA;candidate_mnv_variants=chr17:g.37868205_37868206delGAinsAG;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Any cancer type
ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S MUT Responsive ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 CANCER PMID:22908275 chr17:g.37868208C>T c.929C>T ERBB2:S310F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr17:g.37868208_37868209delCCinsTT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Any cancer type
ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S MUT Responsive ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 CANCER PMID:22908275 chr17:g.37868208C>A c.929C>A ERBB2:S310Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr17:g.37868208_37868209delCCinsAT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Any cancer type
ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S MUT Responsive ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 CANCER PMID:22908275 chr17:g.37868210T>C c.931T>C ERBB2:C311R CSQN=Missense;reference_codon=TGC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr17:g.37868210_37868212delTGCinsAGG,chr17:g.37868210_37868212delTGCinsAGA,chr17:g.37868210_37868212delTGCinsCGA,chr17:g.37868210_37868212delTGCinsCGG,chr17:g.37868210_37868212delTGCinsCGT;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Any cancer type
ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S MUT Responsive ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 CANCER PMID:22908275 chr17:g.37868241A>G c.962A>G ERBB2:E321G CSQN=Missense;reference_codon=GAG;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr17:g.37868241_37868242delAGinsGT,chr17:g.37868241_37868242delAGinsGA,chr17:g.37868241_37868242delAGinsGC;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Any cancer type
ERBB2:G309E,S310F,S310Y,C311R,E321G,C334S MUT Responsive ERBB2 (G309E,S310F,S310Y,C311R,E321G,C334S) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB2 CANCER PMID:22908275 chr17:g.37868279T>A c.1000T>A ERBB2:C334S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chr17:g.37868280G>C;candidate_mnv_variants=chr17:g.37868279_37868281delTGCinsAGT,chr17:g.37868280_37868281delGCinsCT,chr17:g.37868280_37868281delGCinsCG,chr17:g.37868280_37868281delGCinsCA;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_8] + ENST00000269571 Any cancer type
ERBB2:G776L MUT Responsive ERBB2 (G776L) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Case report ERBB2 LUAD PMID:16775247 chr17:g.37880997_37880998delGGinsCT c.2326_2327delGGinsCT ERBB2:G776L CSQN=Missense;reference_codon=GGT;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr17:g.37880997_37880999delGGTinsCTG,chr17:g.37880997_37880999delGGTinsCTA,chr17:g.37880997_37880999delGGTinsCTC,chr17:g.37880997_37880999delGGTinsTTA,chr17:g.37880997_37880999delGGTinsTTG;aliases=ENSP00000269571;source=Ensembl inside_[cds_in_exon_20] + ENST00000269571 Lung adenocarcinoma
ERBB2::consequence::inframe_insertion:775-881 MUT Responsive ERBB2 proximal exon 20 RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Early trials ERBB2 LUAD PMID:26598547;ASCO 2017 (abstr 9071) Lung adenocarcinoma
ERBB3:P262H,G284R MUT Responsive ERBB3 (P262H,G284R) RDientsmann [] [ERBB3 mAb inhibitor] ERBB3 mAb inhibitors Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481857C>A c.785C>A ERBB3:P262H CSQN=Missense;reference_codon=CCT;candidate_codons=CAT,CAC;candidate_mnv_variants=chr12:g.56481857_56481858delCTinsAC;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R MUT Responsive ERBB3 (P262H,G284R) RDientsmann [] [ERBB3 mAb inhibitor] ERBB3 mAb inhibitors Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481857C>A c.785C>A ERBB3:P262H CSQN=Missense;reference_codon=CCT;candidate_codons=CAT,CAC;candidate_mnv_variants=chr12:g.56481857_56481858delCTinsAC;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56490980A>G c.2426A>G ERBB3:Q809R CSQN=Missense;reference_codon=CAG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr12:g.56490979_56490980delCAinsAG,chr12:g.56490980_56490981delAGinsGA,chr12:g.56490980_56490981delAGinsGC,chr12:g.56490980_56490981delAGinsGT,chr12:g.56490979_56490981delCAGinsAGA;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_20] + ENST00000267101 Any cancer type
ERBB3:G284R,R103G MUT Responsive ERBB3 (G284R,R103G) RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Case report ERBB3 BLCA ASCO 2015 (abstr e15516) chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Bladder
ERBB3:G284R,R103G MUT Responsive ERBB3 (G284R,R103G) RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Case report ERBB3 BLCA ASCO 2015 (abstr e15516) chr12:g.56478851C>G c.307C>G ERBB3:R103G CSQN=Missense;reference_codon=CGC;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr12:g.56478851_56478853delCGCinsGGT,chr12:g.56478851_56478853delCGCinsGGG,chr12:g.56478851_56478853delCGCinsGGA;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_3] + ENST00000267101 Bladder
ERBB3:G284R,V104M,R103G MUT Responsive ERBB3 (G284R,V104M,R103G) RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Case report ERBB3 BLCA PMID:27044931 chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Bladder
ERBB3:G284R,V104M,R103G MUT Responsive ERBB3 (G284R,V104M,R103G) RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Case report ERBB3 BLCA PMID:27044931 chr12:g.56478854G>A c.310G>A ERBB3:V104M CSQN=Missense;reference_codon=GTG;candidate_codons=ATG;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_3] + ENST00000267101 Bladder
ERBB3:G284R,V104M,R103G MUT Responsive ERBB3 (G284R,V104M,R103G) RDientsmann Afatinib ERBB2&EGFR inhibitor 2nd gen Afatinib (ERBB2&EGFR inhibitor 2nd gen) Case report ERBB3 BLCA PMID:27044931 chr12:g.56478851C>G c.307C>G ERBB3:R103G CSQN=Missense;reference_codon=CGC;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr12:g.56478851_56478853delCGCinsGGT,chr12:g.56478851_56478853delCGCinsGGG,chr12:g.56478851_56478853delCGCinsGGA;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_3] + ENST00000267101 Bladder
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481857C>A c.785C>A ERBB3:P262H CSQN=Missense;reference_codon=CCT;candidate_codons=CAT,CAC;candidate_mnv_variants=chr12:g.56481857_56481858delCTinsAC;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56490980A>G c.2426A>G ERBB3:Q809R CSQN=Missense;reference_codon=CAG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr12:g.56490979_56490980delCAinsAG,chr12:g.56490980_56490981delAGinsGA,chr12:g.56490980_56490981delAGinsGC,chr12:g.56490980_56490981delAGinsGT,chr12:g.56490979_56490981delCAGinsAGA;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_20] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R MUT Responsive ERBB3 (P262H,G284R) RDientsmann Pertuzumab ERBB2 mAb inhibitor Pertuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481857C>A c.785C>A ERBB3:P262H CSQN=Missense;reference_codon=CCT;candidate_codons=CAT,CAC;candidate_mnv_variants=chr12:g.56481857_56481858delCTinsAC;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R MUT Responsive ERBB3 (P262H,G284R) RDientsmann Pertuzumab ERBB2 mAb inhibitor Pertuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481857C>A c.785C>A ERBB3:P262H CSQN=Missense;reference_codon=CCT;candidate_codons=CAT,CAC;candidate_mnv_variants=chr12:g.56481857_56481858delCTinsAC;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56481922G>A c.850G>A ERBB3:G284R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr12:g.56481922G>C;candidate_mnv_variants=chr12:g.56481922_56481924delGGAinsAGG,chr12:g.56481922_56481924delGGAinsCGC,chr12:g.56481922_56481924delGGAinsCGG,chr12:g.56481922_56481924delGGAinsCGT;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_7] + ENST00000267101 Any cancer type
ERBB3:P262H,G284R,Q809R MUT Responsive ERBB3 (P262H,G284R,Q809R) RDientsmann Trastuzumab ERBB2 mAb inhibitor Trastuzumab (ERBB2 mAb inhibitor) Pre-clinical ERBB3 CANCER PMID:23680147 chr12:g.56490980A>G c.2426A>G ERBB3:Q809R CSQN=Missense;reference_codon=CAG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr12:g.56490979_56490980delCAinsAG,chr12:g.56490980_56490981delAGinsGA,chr12:g.56490980_56490981delAGinsGC,chr12:g.56490980_56490981delAGinsGT,chr12:g.56490979_56490981delCAGinsAGA;aliases=ENSP00000267101;source=Ensembl inside_[cds_in_exon_20] + ENST00000267101 Any cancer type
ERBB4:H809G MUT Resistant ERBB4 (H809G) RDientsmann [Lapatinib] [ERBB2 inhibitor] ERBB2 inhibitors (Lapatinib,etc) Case report ERBB4 BRCA PMID:26530965 chr2:g.212426689_212426690delTGinsCC c.2425_2426delCAinsGG ERBB4:H809G CSQN=Missense;reference_codon=CAC;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr2:g.212426688_212426690delGTGinsACC,chr2:g.212426688_212426690delGTGinsCCC,chr2:g.212426688_212426690delGTGinsTCC;aliases=ENSP00000342235;source=Ensembl inside_[cds_in_exon_20] - ENST00000342788 Breast adenocarcinoma
ERBB4:E317K,E452K,R544W,R393W,E872K MUT Responsive ERBB4 (E317K,E452K,R544W,R393W,E872K) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB4 CM PMID:19718025 chr2:g.212578308C>T c.949G>A ERBB4:E317K CSQN=Missense;reference_codon=GAA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr2:g.212578306_212578308delTTCinsCTT;aliases=ENSP00000342235;source=Ensembl inside_[cds_in_exon_8] - ENST00000342788 Cutaneous melanoma
ERBB4:E317K,E452K,R544W,R393W,E872K MUT Responsive ERBB4 (E317K,E452K,R544W,R393W,E872K) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB4 CM PMID:19718025 chr2:g.212566827C>T c.1354G>A ERBB4:E452K CSQN=Missense;reference_codon=GAA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr2:g.212566825_212566827delTTCinsCTT;aliases=ENSP00000342235;source=Ensembl inside_[cds_in_exon_12] - ENST00000342788 Cutaneous melanoma
ERBB4:E317K,E452K,R544W,R393W,E872K MUT Responsive ERBB4 (E317K,E452K,R544W,R393W,E872K) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB4 CM PMID:19718025 chr2:g.212537975G>A c.1630C>T ERBB4:R544W CSQN=Missense;reference_codon=CGG;candidate_codons=TGG;aliases=ENSP00000342235;source=Ensembl inside_[cds_in_exon_14] - ENST00000342788 Cutaneous melanoma
ERBB4:E317K,E452K,R544W,R393W,E872K MUT Responsive ERBB4 (E317K,E452K,R544W,R393W,E872K) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB4 CM PMID:19718025 chr2:g.212570064G>A c.1177C>T ERBB4:R393W CSQN=Missense;reference_codon=CGG;candidate_codons=TGG;aliases=ENSP00000342235;source=Ensembl inside_[cds_in_exon_10] - ENST00000342788 Cutaneous melanoma
ERBB4:E317K,E452K,R544W,R393W,E872K MUT Responsive ERBB4 (E317K,E452K,R544W,R393W,E872K) RDientsmann Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Pre-clinical ERBB4 CM PMID:19718025 chr2:g.212295699C>T c.2614G>A ERBB4:E872K CSQN=Missense;reference_codon=GAA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr2:g.212295697_212295699delTTCinsCTT;aliases=ENSP00000342235;source=Ensembl inside_[cds_in_exon_21] - ENST00000342788 Cutaneous melanoma
ERCC1:. MUT Responsive ERCC1 oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Pre-clinical ERCC1 L PMID:23934192 Lung
ERCC1:. MUT Responsive ERCC1 oncogenic mutation RDientsmann Cisplatin Chemotherapy Cisplatin (Chemotherapy) Pre-clinical ERCC1 L PMID:23275151;PMID:23934192 Lung
ERCC2:. MUT Responsive ERCC2 oncogenic mutation RDientsmann Cisplatin Chemotherapy Cisplatin (Chemotherapy) Early trials ERCC2 BLCA PMID:25096233 Bladder
ERCC4:. MUT Responsive ERCC4 oncogenic mutation RDientsmann Cisplatin Chemotherapy Cisplatin (Chemotherapy) Pre-clinical ERCC4 OV PMID:25634215 Ovary
ERCC6:. MUT Responsive ERCC6 oncogenic mutation RDientsmann Cisplatin Chemotherapy Cisplatin (Chemotherapy) Pre-clinical ERCC6 OV PMID:25634215 Ovary
ESR1:E380Q,.537.,.538.,L536.,P535H MUT Responsive ESR1 (E380Q,537,538,L536,P535H) RDientsmann [GDC-0810] [novel ER degrader] novel ER degraders (GDC-0810,etc) Case report ESR1 BRCA AACR 2015 (abstr CT231) Breast adenocarcinoma
ESR1:. MUT Resistant ESR1 oncogenic mutation RDientsmann Exemestane Hormonal therapy Exemestane (Hormonal therapy) Late trials ESR1 BRCA PMID:27269946 Breast adenocarcinoma
ESR1:. MUT Responsive ESR1 oncogenic mutation RDientsmann Fluvestrant Hormonal therapy Fluvestrant (Hormonal therapy) Late trials ESR1 BRCA PMID:27269946 Breast adenocarcinoma
ESR1:Y537S MUT Resistant ESR1 (Y537S) RDientsmann Fulvestrant Hormonal therapy Fulvestrant (Hormonal therapy) Pre-clinical ESR1 BRCA PMID:27986707 chr6:g.152419923A>C c.1610A>C ESR1:Y537S CSQN=Missense;reference_codon=TAT;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr6:g.152419922_152419923delTAinsAG,chr6:g.152419923_152419924delATinsCG,chr6:g.152419923_152419924delATinsCC,chr6:g.152419923_152419924delATinsCA,chr6:g.152419922_152419924delTATinsAGC;aliases=ENSP00000405330;source=Ensembl inside_[cds_in_exon_10] + ENST00000440973 Breast adenocarcinoma
ESR1:E380Q,.537.,.538.,L536.,P535H MUT Resistant ESR1 (E380Q,537,538,L536,P535H) RDientsmann Tamoxifen Hormonal therapy Tamoxifen (Hormonal therapy) Early trials ESR1 BRCA PMID:24185512;PMID:24185510;PMID:24398047 Breast adenocarcinoma
EZH2:Y641.,A677. MUT Cell line Responsive EZH2 (Y641,A677) RDientsmann;ECampo [EPZ-005687,EPZ-6438] [EZH2 inhibitor] EZH2 inhibitors (EPZ-005687,EPZ-6438,etc) Pre-clinical Pre-clinical EZH2 LY PMID:23023262;PMID:24563539 Direct Lymphoma
FANCA:. MUT Responsive FANCA oncogenic mutation RDientsmann Olaparib PARP inhibitor Olaparib (PARP inhibitor) Case report FANCA PRAD PMID:26510020 Prostate adenocarcinoma
FANCC:. MUT Responsive FANCC oncogenic mutation ARodriguez-Vida Cisplatin Chemotherapy Cisplatin (Chemotherapy) Approved Early trials FANCC BLCA BLCA PMID:26238431 Indirect Bladder
FAT1:. MUT Responsive FAT1 oncogenic mutation RDientsmann [] [BET inhibitor] BET inhibitors Pre-clinical FAT1 HNSC PMID:27397505 Head an neck squamous
FBXW7:. MUT Responsive FBXW7 oncogenic mutation RDientsmann [] [Steroid] Steroids Late trials FBXW7 ALL PMID:20861909 Acute lymphoblastic leukemia
FBXW7:. MUT Resistant FBXW7 oncogenic mutation RDientsmann [] [Tubulin inhibitor] Tubulin inhibitors Pre-clinical FBXW7 CANCER PMID:21368834 Any cancer type
FGFR2::consequence::inframe_insertion:A266.,::inframe_insertion:S267. MUT Responsive FGFR2 inframe insertion (A266),inframe insertion (S267) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 L PMID:26048680 Lung
FGFR2:S252W,N550K MUT Responsive FGFR2 (S252W,N550K) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 ED PMID:18552176;PMID:22238366;PMID:23002168 chr10:g.123279677G>C c.755C>G FGFR2:S252W CSQN=Missense;reference_codon=TCG;candidate_codons=TGG;aliases=ENSP00000410294;source=Ensembl inside_[cds_in_exon_7] - ENST00000457416 Endometrium
FGFR2:S252W,N550K MUT Responsive FGFR2 (S252W,N550K) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 ED PMID:18552176;PMID:22238366;PMID:23002168 chr10:g.123258034A>C c.1650T>G FGFR2:N550K CSQN=Missense;reference_codon=AAT;candidate_codons=AAG,AAA;candidate_snv_variants=chr10:g.123258034A>T;aliases=ENSP00000410294;source=Ensembl inside_[cds_in_exon_12] - ENST00000457416 Endometrium
FGFR2:V565I MUT Responsive FGFR2 (V565I) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 ED ENA 2014 (abstr 381) chr10:g.123256219C>T c.1693G>A FGFR2:V565I CSQN=Missense;reference_codon=GTT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr10:g.123256217_123256219delAACinsGAT,chr10:g.123256217_123256219delAACinsTAT;aliases=ENSP00000410294;source=Ensembl inside_[cds_in_exon_13] - ENST00000457416 Endometrium
FGFR2:W290C,S320C,K660N MUT Responsive FGFR2 (W290C,S320C,K660N) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 LUSC PMID:23786770;PMID:25035393 chr10:g.123279562C>A c.870G>T FGFR2:W290C CSQN=Missense;reference_codon=TGG;candidate_codons=TGT,TGC;candidate_snv_variants=chr10:g.123279562C>G;aliases=ENSP00000410294;source=Ensembl inside_[cds_in_exon_7] - ENST00000457416 Lung squamous cell
FGFR2:W290C,S320C,K660N MUT Responsive FGFR2 (W290C,S320C,K660N) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 LUSC PMID:23786770;PMID:25035393 chr10:g.123278324G>C c.959C>G FGFR2:S320C CSQN=Missense;reference_codon=TCC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr10:g.123278323_123278324delGGinsAC;aliases=ENSP00000410294;source=Ensembl inside_[cds_in_exon_8] - ENST00000457416 Lung squamous cell
FGFR2:W290C,S320C,K660N MUT Responsive FGFR2 (W290C,S320C,K660N) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR2 LUSC PMID:23786770;PMID:25035393 chr10:g.123247514C>G c.1980G>C FGFR2:K660N CSQN=Missense;reference_codon=AAG;candidate_codons=AAC,AAT;candidate_snv_variants=chr10:g.123247514C>A;aliases=ENSP00000410294;source=Ensembl inside_[cds_in_exon_14] - ENST00000457416 Lung squamous cell
FGFR2:V565I,M536I,M538I,I548V,N550.,E566G,L618M,K660E MUT Resistant FGFR2 (V565I,M536I,M538I,I548V,N550,E566G,L618M,K660E) RDientsmann Dovitinib FGFR inhibitor Dovitinib (FGFR inhibitor) Pre-clinical FGFR2 ED PMID:23908597 Endometrium
FGFR2:M536I,M538I,I548V,N550.,E566G,L618M,K660E MUT Responsive FGFR2 (M536I,M538I,I548V,N550,E566G,L618M,K660E) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical FGFR2 ED PMID:23908597 Endometrium
FGFR3:. MUT Responsive FGFR3 oncogenic mutation RDientsmann [] [FGFR inhibitor] FGFR inhibitors Early trials FGFR3 BLCA PMID:27870574 Bladder
FGFR3:K650.,Y373C MUT Responsive FGFR3 (K650,Y373C) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR3 MYMA PMID:16091734;PMID:20439987;PMID:22869148 Myeloma
FGFR3:S249C,G691R MUT Responsive FGFR3 (S249C,G691R) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR3 LUAD PMID:27998968 chr4:g.1803568C>G c.746C>G FGFR3:S249C CSQN=Missense;reference_codon=TCC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr4:g.1803568_1803569delCCinsGT;aliases=ENSP00000414914;source=Ensembl inside_[cds_in_exon_7] + ENST00000440486 Lung adenocarcinoma
FGFR3:S249C,G691R MUT Responsive FGFR3 (S249C,G691R) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR3 LUAD PMID:27998968 chr4:g.1808313G>A c.2071G>A FGFR3:G691R CSQN=Missense;reference_codon=GGG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr4:g.1808313G>C;candidate_mnv_variants=chr4:g.1808313_1808315delGGGinsAGA,chr4:g.1808313_1808315delGGGinsCGA,chr4:g.1808313_1808315delGGGinsCGC,chr4:g.1808313_1808315delGGGinsCGT;aliases=ENSP00000414914;source=Ensembl inside_[cds_in_exon_16] + ENST00000440486 Lung adenocarcinoma
FGFR3:V555M MUT Resistant FGFR3 (V555M) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR3 MYMA PMID:22869148 chr4:g.1807494G>A c.1663G>A FGFR3:V555M CSQN=Missense;reference_codon=GTG;candidate_codons=ATG;aliases=ENSP00000414914;source=Ensembl inside_[cds_in_exon_13] + ENST00000440486 Myeloma
FGFR3:K650. MUT Responsive FGFR3 (K650) RDientsmann Bortezomib Proteasome inhibitor Bortezomib (Proteasome inhibitor) Pre-clinical FGFR3 MYMA PMID:19331127;PMID:21273588 Myeloma
FGFR3:Y373C MUT Resistant FGFR3 (Y373C) RDientsmann Bortezomib Proteasome inhibitor Bortezomib (Proteasome inhibitor) Pre-clinical FGFR3 MYMA PMID:19331127;PMID:21273588 chr4:g.1806099A>G c.1118A>G FGFR3:Y373C CSQN=Missense;reference_codon=TAT;candidate_codons=TGT,TGC;candidate_mnv_variants=chr4:g.1806099_1806100delATinsGC;aliases=ENSP00000414914;source=Ensembl inside_[cds_in_exon_9] + ENST00000440486 Myeloma
FGFR4:N535.,V550. MUT Responsive FGFR4 (N535,V550) RDientsmann [] [FGFR inhibitor] FGFR inhibitors Pre-clinical FGFR4 RHBDS PMID:19809159;PMID:24124571 Rhabdomyosarcoma
FLCN:. MUT Responsive FLCN oncogenic mutation RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report FLCN R PMID:23995526 Renal
FLT3::consequence::inframe_variant:572-603 MUT Responsive FLT3-ITD RDientsmann [] [FLT3 inhibitor] FLT3 inhibitors Early trials FLT3 AML PMID:16857985 Acute myeloid leukemia
FLT3:F691. MUT Responsive FLT3 (F691) RDientsmann [] [novel FLT3 inhibitor] novel FLT3 inhibitors Pre-clinical FLT3 AML PMID:25847190 Acute myeloid leukemia
FLT3:N676. MUT Responsive FLT3 (N676) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Pre-clinical FLT3 AML PMID:24619500 Acute myeloid leukemia
FLT3:D835. MUT Responsive FLT3 (D835) RDientsmann Lestaurtinib Pan-TK inhibitor Lestaurtinib (Pan-TK inhibitor) Case report FLT3 AML PMID:16857985 Acute myeloid leukemia
FLT3:D835. MUT Responsive FLT3 (D835) RDientsmann Midostaurin Pan-TK inhibitor Midostaurin (Pan-TK inhibitor) Case report FLT3 AML PMID:20733134 Acute myeloid leukemia
FLT3:N676. MUT Responsive FLT3 (N676) RDientsmann Midostaurin Pan-TK inhibitor Midostaurin (Pan-TK inhibitor) Pre-clinical FLT3 AML PMID:24619500 Acute myeloid leukemia
FLT3:D835.,Y842. MUT Resistant FLT3 (D835,Y842) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical FLT3 AML PMID:23430109 Acute myeloid leukemia
FLT3::consequence::inframe_variant:572-603 MUT Responsive FLT3-ITD RDientsmann Quizartinib Pan-TK inhibitor Quizartinib (Pan-TK inhibitor) Early trials FLT3 AML ASH 2012 (abstr 673);ASH 2012 (abstr 48) Acute myeloid leukemia
FLT3:F691.,D835.,N676.,Y842. MUT Resistant FLT3 (F691,D835,N676,Y842) RDientsmann Quizartinib Pan-TK inhibitor Quizartinib (Pan-TK inhibitor) Pre-clinical FLT3 AML PMID:22504184;PMID:23878140 Acute myeloid leukemia
FLT3::consequence::inframe_variant:572-603 MUT Responsive FLT3-ITD RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Early trials FLT3 AML PMID:19389879;PMID:22368270 Acute myeloid leukemia
FLT3::consequence::inframe_variant:572-603 MUT Responsive FLT3-ITD RDientsmann Sorafenib;Azacytidine Pan-TK inhibitor;Chemotherapy Sorafenib + Azacytidine (Pan-TK inhibitor + Chemotherapy) Early trials FLT3 AML PMID:23613521 Acute myeloid leukemia
FLT3::consequence::inframe_variant:572-603 MUT Resistant FLT3-ITD DTamborero;CRubio-Perez Venetoclax BCL2 inhibitor Venetoclax (BCL2 inhibitor) Early trials FLT3 AML PMID:27520294 Acute myeloid leukemia
G6PD:S218F MUT Increased Toxicity (Haemolytic Anemia) G6PD (S218F) DTamborero;CRubio-Perez Dabrafenib BRAF inhibitor Dabrafenib (BRAF inhibitor) Approved FDA guidelines G6PD CANCER FDA chrX:g.153762634G>A c.653C>T G6PD:S218F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chrX:g.153762633_153762634delGGinsAA;aliases=ENSP00000377192;source=Ensembl inside_[cds_in_exon_6] - ENST00000393562 Any cancer type
GATA3:. MUT Responsive GATA3 oncogenic mutation RDientsmann [] [Aromatase ihibitor] Aromatase ihibitors Pre-clinical GATA3 BRCA PMID:24758297 Breast adenocarcinoma
GNA11:Q209L,Q209P MUT Responsive GNA11 (Q209L,Q209P) RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical GNA11 CM PMID:22733540;PMID:22808163 chr19:g.3118942A>T c.626A>T GNA11:Q209L CSQN=Missense;reference_codon=CAG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr19:g.3118942_3118943delAGinsTT,chr19:g.3118942_3118943delAGinsTA,chr19:g.3118942_3118943delAGinsTC,chr19:g.3118941_3118942delCAinsTT,chr19:g.3118941_3118943delCAGinsTTA;aliases=ENSP00000078429;source=Ensembl inside_[cds_in_exon_5] + ENST00000078429 Cutaneous melanoma
GNA11:Q209L,Q209P MUT Responsive GNA11 (Q209L,Q209P) RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical GNA11 CM PMID:22733540;PMID:22808163 chr19:g.3118942A>C c.626A>C GNA11:Q209P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr19:g.3118942_3118943delAGinsCT,chr19:g.3118942_3118943delAGinsCA,chr19:g.3118942_3118943delAGinsCC;aliases=ENSP00000078429;source=Ensembl inside_[cds_in_exon_5] + ENST00000078429 Cutaneous melanoma
GNA11:Q209L,Q209P MUT Responsive GNA11 (Q209L,Q209P) RDientsmann Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Early trials GNA11 CM ASCO 2013 (abstr CRA9003) chr19:g.3118942A>T c.626A>T GNA11:Q209L CSQN=Missense;reference_codon=CAG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr19:g.3118942_3118943delAGinsTT,chr19:g.3118942_3118943delAGinsTA,chr19:g.3118942_3118943delAGinsTC,chr19:g.3118941_3118942delCAinsTT,chr19:g.3118941_3118943delCAGinsTTA;aliases=ENSP00000078429;source=Ensembl inside_[cds_in_exon_5] + ENST00000078429 Cutaneous melanoma
GNA11:Q209L,Q209P MUT Responsive GNA11 (Q209L,Q209P) RDientsmann Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Early trials GNA11 CM ASCO 2013 (abstr CRA9003) chr19:g.3118942A>C c.626A>C GNA11:Q209P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr19:g.3118942_3118943delAGinsCT,chr19:g.3118942_3118943delAGinsCA,chr19:g.3118942_3118943delAGinsCC;aliases=ENSP00000078429;source=Ensembl inside_[cds_in_exon_5] + ENST00000078429 Cutaneous melanoma
GNA11:Q209L,Q209P MUT Responsive GNA11 (Q209L,Q209P) RDientsmann Vorinostat HDAC inhibitor Vorinostat (HDAC inhibitor) Pre-clinical GNA11 CM NCT01587352 chr19:g.3118942A>T c.626A>T GNA11:Q209L CSQN=Missense;reference_codon=CAG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr19:g.3118942_3118943delAGinsTT,chr19:g.3118942_3118943delAGinsTA,chr19:g.3118942_3118943delAGinsTC,chr19:g.3118941_3118942delCAinsTT,chr19:g.3118941_3118943delCAGinsTTA;aliases=ENSP00000078429;source=Ensembl inside_[cds_in_exon_5] + ENST00000078429 Cutaneous melanoma
GNA11:Q209L,Q209P MUT Responsive GNA11 (Q209L,Q209P) RDientsmann Vorinostat HDAC inhibitor Vorinostat (HDAC inhibitor) Pre-clinical GNA11 CM NCT01587352 chr19:g.3118942A>C c.626A>C GNA11:Q209P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr19:g.3118942_3118943delAGinsCT,chr19:g.3118942_3118943delAGinsCA,chr19:g.3118942_3118943delAGinsCC;aliases=ENSP00000078429;source=Ensembl inside_[cds_in_exon_5] + ENST00000078429 Cutaneous melanoma
GNAQ:Q209. MUT Responsive GNAQ (Q209) RDientsmann [] [HDAC inhibitor] HDAC inhibitors Pre-clinical GNAQ CM NCT01587352 Cutaneous melanoma
GNAQ:Q209. MUT Responsive GNAQ (Q209) RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical GNAQ CM PMID:22733540;PMID:22808163 Cutaneous melanoma
GNAQ:Q209. MUT Responsive GNAQ (Q209) RDientsmann [] [PKC inhibitor] PKC inhibitors Pre-clinical GNAQ CM PMID:22653968;PMID:22253748 Cutaneous melanoma
GNAQ:Q209. MUT Responsive GNAQ (Q209) RDientsmann Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Early trials GNAQ CM ASCO 2013 (abstr CRA9003) Cutaneous melanoma
GNAS:R201. MUT Responsive GNAS (R201) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical GNAS CANCER PMID:21835143 Any cancer type
HRAS:. MUT Responsive HRAS oncogenic mutation RDientsmann [] [MEK inhibitor +/- MTOR inhibitor] MEK inhibitor +/- MTOR inhibitors Pre-clinical HRAS AML PMID:22399013;PMID:22507781 Acute myeloid leukemia
HRAS:. MUT Responsive HRAS oncogenic mutation RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical HRAS CESC PMID:22345164 Cervix squamous cell
HRAS:. MUT Responsive HRAS oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical HRAS CER PMID:15950068 Cervix
HRAS:. MUT Responsive HRAS oncogenic mutation RDientsmann Tipifarnib Farnesyltransferase inhibitor Tipifarnib (Farnesyltransferase inhibitor) Early trials HRAS CANCER NCT02383927 Any cancer type
HRAS:. MUT Responsive HRAS oncogenic mutation RDientsmann Tipifarnib Farnesyltransferase inhibitor Tipifarnib (Farnesyltransferase inhibitor) Clinical Trials Early trials HRAS CANCER NCT02383927 Any cancer type
IDH1:. MUT Responsive IDH1 oncogenic mutation RDientsmann [] [BCL2 inhibitor] BCL2 inhibitors Pre-clinical IDH1 AML PMID:25599133 Acute myeloid leukemia
IDH1:. MUT Responsive IDH1 oncogenic mutation RDientsmann [] [IDH1 inhibitor] IDH1 inhibitors Early trials IDH1 AML ENA 2014 (abstr 1LBA) Acute myeloid leukemia
IDH1:R132. MUT Responsive IDH1 (R132) RDientsmann [] [PARP inhibitor] PARP inhibitors Pre-clinical IDH1 CANCER PMID:28148839 Any cancer type
IDH1:. MUT Responsive IDH1 oncogenic mutation MMartínez;RDientsmann;CRubio-Perez AG-120 IDH1 inhibitor AG-120 (IDH1 inhibitor) Clinical Trials Early trials IDH1 G NCT02073994;PMID:23558169 Direct Glioma
IDH1:. MUT Responsive IDH1 oncogenic mutation CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Clinical Trials Early trials IDH1 CH NCT02428855 Indirect Cholangiocarcinoma
IDH1:R132. MUT Responsive IDH1 (R132) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical IDH1 BT PMID:27231123 Billiary tract
IDH1:. MUT Responsive IDH1 oncogenic mutation DTamborero;CRubio-Perez Venetoclax BCL2 inhibitor Venetoclax (BCL2 inhibitor) Early trials IDH1 AML PMID:27520294 Acute myeloid leukemia
IDH2:R140K,R172K MUT Responsive IDH2 (R140K,R172K) RDientsmann AG-221 IDH2 inhibitor AG-221 (IDH2 inhibitor) Clinical Trials Early trials IDH2 HEMATO AACR 2014 (abstr CT103) Direct chr15:g.90631934_90631935delCGinsTT c.418_419delCGinsAA IDH2:R140K CSQN=Missense;reference_codon=CGG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr15:g.90631933_90631935delCCGinsTTT;aliases=ENSP00000331897;source=Ensembl inside_[cds_in_exon_4] - ENST00000330062 Hematologic malignancies
IDH2:R140K,R172K MUT Responsive IDH2 (R140K,R172K) RDientsmann AG-221 IDH2 inhibitor AG-221 (IDH2 inhibitor) Clinical Trials Early trials IDH2 HEMATO AACR 2014 (abstr CT103) Direct chr15:g.90631838C>T c.515G>A IDH2:R172K CSQN=Missense;reference_codon=AGG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr15:g.90631837_90631838delCCinsTT;aliases=ENSP00000331897;source=Ensembl inside_[cds_in_exon_4] - ENST00000330062 Hematologic malignancies
IDH2:. MUT Responsive IDH2 oncogenic mutation CRubio-Perez Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Clinical Trials Early trials IDH2 CH NCT02428855 Indirect Cholangiocarcinoma
IDH2:R172. MUT Responsive IDH2 (R172) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical IDH2 BT PMID:27231123 Billiary tract
IDH2:. MUT Responsive IDH2 oncogenic mutation DTamborero;CRubio-Perez Venetoclax BCL2 inhibitor Venetoclax (BCL2 inhibitor) Early trials IDH2 AML PMID:27520294 Acute myeloid leukemia
INPP4B:. MUT Responsive INPP4B oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Pre-clinical INPP4B BRCA PMID:23551093 Breast adenocarcinoma
JAK1:. MUT Resistant JAK1 oncogenic mutation RDientsmann [] [PD1 inhibitor] PD1 inhibitors Case report JAK1 COREAD PMID:27903500 Colorectal adenocarcinoma
JAK1:. MUT Resistant JAK1 oncogenic mutation RDientsmann [] [PD1 inhibitor] PD1 inhibitors Case report JAK1 CM PMID:27433843 Cutaneous melanoma
JAK1:S646F;R683. MUT Responsive JAK1 (S646F;R683) RDientsmann Ruxolitinib JAK inhibitor Ruxolitinib (JAK inhibitor) Pre-clinical JAK1 ALL PMID:22955920;PMID:18805579 Acute lymphoblastic leukemia
JAK2:V617F MUT Responsive JAK2 (V617F) RDientsmann [] [JAK inhibitor (alone or in combination)] JAK inhibitor (alone or in combination)s Pre-clinical JAK2 AML PMID:22829971 chr9:g.5073770G>T c.1849G>T JAK2:V617F CSQN=Missense;reference_codon=GTC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr9:g.5073770_5073772delGTCinsTTT;aliases=ENSP00000371067;source=Ensembl inside_[cds_in_exon_14] + ENST00000381652 Acute myeloid leukemia
JAK2:. MUT Resistant JAK2 oncogenic mutation RDientsmann [] [PD1 inhibitor] PD1 inhibitors Case report JAK2 CM PMID:27433843 Cutaneous melanoma
JAK2:V617F MUT Responsive JAK2 (V617F) RDientsmann Ruxolitinib JAK inhibitor Ruxolitinib (JAK inhibitor) Early trials JAK2 AML PMID:22422826 chr9:g.5073770G>T c.1849G>T JAK2:V617F CSQN=Missense;reference_codon=GTC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr9:g.5073770_5073772delGTCinsTTT;aliases=ENSP00000371067;source=Ensembl inside_[cds_in_exon_14] + ENST00000381652 Acute myeloid leukemia
JAK2:V617F MUT Responsive JAK2 (V617F) RDientsmann Ruxolitinib JAK inhibitor Ruxolitinib (JAK inhibitor) Approved FDA guidelines JAK2 MY FDA chr9:g.5073770G>T c.1849G>T JAK2:V617F CSQN=Missense;reference_codon=GTC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr9:g.5073770_5073772delGTCinsTTT;aliases=ENSP00000371067;source=Ensembl inside_[cds_in_exon_14] + ENST00000381652 Myelofibrosis
JAK3:A572V,A573V MUT Responsive JAK3 (A572V,A573V) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical JAK3 LY PMID:22705984 chr19:g.17948009G>A c.1715C>T JAK3:A572V CSQN=Missense;reference_codon=GCA;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr19:g.17948008_17948009delTGinsGA,chr19:g.17948008_17948009delTGinsCA,chr19:g.17948008_17948009delTGinsAA;aliases=ENSP00000391676;source=Ensembl inside_[cds_in_exon_13] - ENST00000458235 Lymphoma
JAK3:A572V,A573V MUT Responsive JAK3 (A572V,A573V) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical JAK3 LY PMID:22705984 chr19:g.17948006G>A c.1718C>T JAK3:A573V CSQN=Missense;reference_codon=GCG;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr19:g.17948005_17948006delCGinsTA,chr19:g.17948005_17948006delCGinsGA,chr19:g.17948005_17948006delCGinsAA;aliases=ENSP00000391676;source=Ensembl inside_[cds_in_exon_13] - ENST00000458235 Lymphoma
JAK3:R657Q,I87T,Q501H MUT Responsive JAK3 (R657Q,I87T,Q501H) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical JAK3 MKB PMID:18397343 chr19:g.17945969C>T c.1970G>A JAK3:R657Q CSQN=Missense;reference_codon=CGG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr19:g.17945968_17945969delCCinsTT;aliases=ENSP00000391676;source=Ensembl inside_[cds_in_exon_15] - ENST00000458235 Megakaryoblastic leukemia
JAK3:R657Q,I87T,Q501H MUT Responsive JAK3 (R657Q,I87T,Q501H) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical JAK3 MKB PMID:18397343 chr19:g.17954634A>G c.260T>C JAK3:I87T CSQN=Missense;reference_codon=ATC;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr19:g.17954633_17954634delGAinsTG,chr19:g.17954633_17954634delGAinsCG,chr19:g.17954633_17954634delGAinsAG;aliases=ENSP00000391676;source=Ensembl inside_[cds_in_exon_3] - ENST00000458235 Megakaryoblastic leukemia
JAK3:R657Q,I87T,Q501H MUT Responsive JAK3 (R657Q,I87T,Q501H) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical JAK3 MKB PMID:18397343 chr19:g.17949138C>A c.1503G>T JAK3:Q501H CSQN=Missense;reference_codon=CAG;candidate_codons=CAT,CAC;candidate_snv_variants=chr19:g.17949138C>G;aliases=ENSP00000391676;source=Ensembl inside_[cds_in_exon_11] - ENST00000458235 Megakaryoblastic leukemia
KCNJ5:L168R MUT Cell line Responsive KCNJ5 (L168R) ECampo Amiloride Na-Ca chanel blocker Amiloride (Na-Ca chanel blocker) Approved Pre-clinical KCNJ5 AA PMID:24506072 Indirect chr11:g.128781671T>G c.503T>G KCNJ5:L168R CSQN=Missense;reference_codon=CTC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr11:g.128781671_128781672delTCinsGA,chr11:g.128781671_128781672delTCinsGG,chr11:g.128781671_128781672delTCinsGT,chr11:g.128781670_128781672delCTCinsAGG,chr11:g.128781670_128781672delCTCinsAGA;aliases=ENSP00000433295;source=Ensembl inside_[cds_in_exon_2] + ENST00000529694 Adrenal adenoma
KCNJ5:L168R MUT Cell line Responsive KCNJ5 (L168R) ECampo Verapamil Na-Ca chanel blocker Verapamil (Na-Ca chanel blocker) Approved Pre-clinical KCNJ5 AA PMID:24506072 Indirect chr11:g.128781671T>G c.503T>G KCNJ5:L168R CSQN=Missense;reference_codon=CTC;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr11:g.128781671_128781672delTCinsGA,chr11:g.128781671_128781672delTCinsGG,chr11:g.128781671_128781672delTCinsGT,chr11:g.128781670_128781672delCTCinsAGG,chr11:g.128781670_128781672delCTCinsAGA;aliases=ENSP00000433295;source=Ensembl inside_[cds_in_exon_2] + ENST00000529694 Adrenal adenoma
KDR:A1065T MUT Responsive KDR (A1065T) RDientsmann [] [VEGFR inhibitor] VEGFR inhibitors Pre-clinical KDR CANCER PMID:24569783 chr4:g.55955969C>T c.3193G>A KDR:A1065T CSQN=Missense;reference_codon=GCT;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr4:g.55955967_55955969delAGCinsTGT,chr4:g.55955967_55955969delAGCinsCGT,chr4:g.55955967_55955969delAGCinsGGT;aliases=ENSP00000263923;source=Ensembl inside_[cds_in_exon_24] - ENST00000263923 Any cancer type
KIT:550-592 MUT Responsive KIT mutation in exon 11 RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Early trials KIT GIST PMID:22898035 Gastrointestinal stromal
KIT:788-828,449-514 MUT Responsive KIT mutation in exon 9 or 17 RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical KIT GIST PMID:21737509 Gastrointestinal stromal
KIT::wildtype:. MUT Responsive KIT wildtype RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical KIT GIST PMID:16397263 Gastrointestinal stromal
KIT:550-592,627-664 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Case report KIT CM PMID:19671763 Cutaneous melanoma
KIT:D816V MUT Responsive KIT (D816V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Early trials KIT SM PMID:18559612 chr4:g.55599321A>T c.2447A>T KIT:D816V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55599321_55599322delACinsTA,chr4:g.55599321_55599322delACinsTG,chr4:g.55599321_55599322delACinsTT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Systemic mastocytosis
KIT:D816V MUT Responsive KIT (D816V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Case report KIT AML PMID:18986703 chr4:g.55599321A>T c.2447A>T KIT:D816V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55599321_55599322delACinsTA,chr4:g.55599321_55599322delACinsTG,chr4:g.55599321_55599322delACinsTT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Acute myeloid leukemia
KIT:D816Y,D816F,D816V MUT Responsive KIT (D816Y,D816F,D816V) CRubio-Perez;RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical KIT CANCER PMID:16397263 chr4:g.55599320G>T c.2446G>T KIT:D816Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55599320_55599322delGACinsTAT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Any cancer type
KIT:D816Y,D816F,D816V MUT Responsive KIT (D816Y,D816F,D816V) CRubio-Perez;RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical KIT CANCER PMID:16397263 chr4:g.55599320_55599321delGAinsTT c.2446_2447delGAinsTT KIT:D816F CSQN=Missense;reference_codon=GAC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr4:g.55599320_55599322delGACinsTTT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Any cancer type
KIT:D816Y,D816F,D816V MUT Responsive KIT (D816Y,D816F,D816V) CRubio-Perez;RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical KIT CANCER PMID:16397263 chr4:g.55599321A>T c.2447A>T KIT:D816V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55599321_55599322delACinsTA,chr4:g.55599321_55599322delACinsTG,chr4:g.55599321_55599322delACinsTT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Any cancer type
KIT:N822K MUT Responsive KIT (N822K) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical KIT AML PMID:23149070 chr4:g.55599340T>G c.2466T>G KIT:N822K CSQN=Missense;reference_codon=AAT;candidate_codons=AAG,AAA;candidate_snv_variants=chr4:g.55599340T>A;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Acute myeloid leukemia
KIT::consequence::inframe_deletion:416-422,::inframe_insertion:416-422 MUT Responsive KIT inframe deletion (416-422),inframe insertion (416-422) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical KIT AML PMID:15618474 Acute myeloid leukemia
KIT::consequence::inframe_deletion:V560. MUT Responsive KIT inframe deletion (V560) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Case report KIT THYM PMID:15201427 Thymic
KIT::wildtype:. MUT Resistant KIT wildtype RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Late trials KIT GIST PMID:18955458 Gastrointestinal stromal
KIT:449-514,550-592,627-664,664-714,788-828 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 CRubio-Perez;DTamborero;RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved FDA guidelines KIT GIST FDA Gastrointestinal stromal
KIT:550-592,627-664 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Late trials KIT CM PMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812 Cutaneous melanoma
KIT:550-592,627-664 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved NCCN guidelines KIT CM NCCN Cutaneous melanoma
KIT:627-664,664-714,449-514 MUT Resistant KIT (627-664,664-714,449-514) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Late trials KIT GIST PMID:18955458;PMID:18955451;PMID:16624552 Gastrointestinal stromal
KIT:788-828 MUT Resistant KIT mutation in exon 17 RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical KIT GIST PMID:23840364 Gastrointestinal stromal
KIT:788-828,829-860 MUT Resistant KIT mutation in exon 17 or 18 RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Early trials KIT CM PMID:21690468;PMID:21642685 Cutaneous melanoma
KIT:D816. MUT Resistant KIT (D816) CRubio-Perez;DTamborero;RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved FDA guidelines KIT GIST;MDS;MDPS;HES;ECL;CML;ALL;SM FDA Gastrointestinal stromal;Myelodisplasic syndrome;Myelodisplasic proliferative syndrome;Hyper eosinophilic advanced snydrome;Eosinophilic chronic leukemia;Chronic myeloid leukemia;Acute lymphoblastic leukemia;Systemic mastocytosis
KIT:D820Y MUT Responsive KIT (D820Y) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Case report KIT CM PMID:23775962 chr4:g.55599332G>T c.2458G>T KIT:D820Y CSQN=Missense;reference_codon=GAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55599332_55599334delGATinsTAC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Cutaneous melanoma
KIT:T670I MUT Resistant KIT (T670I) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Case report KIT GIST PMID:24687822 chr4:g.55595519C>T c.2009C>T KIT:T670I CSQN=Missense;reference_codon=ACA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr4:g.55595519_55595520delCAinsTC,chr4:g.55595519_55595520delCAinsTT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_14] + ENST00000288135 Gastrointestinal stromal
KIT:V559I,H697Y,T670.,V654A,A829P,D816.,N822.,Y823D MUT Resistant KIT (V559I,H697Y,T670,V654A,A829P,D816,N822,Y823D) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical KIT GIST PMID:23582185;PMID:21689725;PMID:17259998 Gastrointestinal stromal
KIT:Y553N MUT Responsive KIT (Y553N) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Case report KIT THYM PMID:21969494 chr4:g.55593591T>A c.1657T>A KIT:Y553N CSQN=Missense;reference_codon=TAT;candidate_codons=AAC,AAT;candidate_mnv_variants=chr4:g.55593591_55593593delTATinsAAC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_11] + ENST00000288135 Thymic
KIT:550-592,627-664 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Early trials KIT CM PMID:22068222;PMID:25695690 Cutaneous melanoma
KIT:788-828 MUT Responsive KIT mutation in exon 17 RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Early trials KIT GIST PMID:22119758;PMID:21456006 Gastrointestinal stromal
KIT:D820Y MUT Responsive KIT (D820Y) RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Case report KIT CM PMID:25695690 chr4:g.55599332G>T c.2458G>T KIT:D820Y CSQN=Missense;reference_codon=GAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55599332_55599334delGATinsTAC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Cutaneous melanoma
KIT:788-828,829-860,550-592 MUT Responsive KIT (788-828,829-860,550-592) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Early trials KIT GIST ASCO 2015 (abstr 10517);PMID:25239608;ASCO 2015 (abstr 10535) Gastrointestinal stromal
KIT:A829P,V654A,T670I MUT Responsive KIT (A829P,V654A,T670I) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical KIT GIST PMID:25239608 chr4:g.55602664G>C c.2485G>C KIT:A829P CSQN=Missense;reference_codon=GCT;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr4:g.55602664_55602666delGCTinsCCG,chr4:g.55602664_55602666delGCTinsCCA,chr4:g.55602664_55602666delGCTinsCCC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_18] + ENST00000288135 Gastrointestinal stromal
KIT:A829P,V654A,T670I MUT Responsive KIT (A829P,V654A,T670I) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical KIT GIST PMID:25239608 chr4:g.55594258T>C c.1961T>C KIT:V654A CSQN=Missense;reference_codon=GTG;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr4:g.55594258_55594259delTGinsCA,chr4:g.55594258_55594259delTGinsCC,chr4:g.55594258_55594259delTGinsCT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_13] + ENST00000288135 Gastrointestinal stromal
KIT:A829P,V654A,T670I MUT Responsive KIT (A829P,V654A,T670I) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical KIT GIST PMID:25239608 chr4:g.55595519C>T c.2009C>T KIT:T670I CSQN=Missense;reference_codon=ACA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr4:g.55595519_55595520delCAinsTC,chr4:g.55595519_55595520delCAinsTT;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_14] + ENST00000288135 Gastrointestinal stromal
KIT:449-514,550-592,627-664,664-714,788-828 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Regorafenib Pan-kinase inhibitor Regorafenib (Pan-kinase inhibitor) Approved FDA guidelines KIT GIST FDA Gastrointestinal stromal
KIT::consequence::inframe_deletion:577-579 MUT Responsive KIT inframe deletion (577-579) RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Case report KIT THYM PMID:20970876 Thymic
KIT::wildtype:. MUT Responsive KIT wildtype RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Early trials KIT GIST ASCO 2011 (abstr 10009) Gastrointestinal stromal
KIT:550-592,449-514 MUT Responsive KIT mutation in exon 9 or 11 RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Early trials KIT GIST PMID:22270258 Gastrointestinal stromal
KIT:550-592,627-664,788-828,829-860 MUT Responsive KIT (550-592,627-664,788-828,829-860) RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Case report KIT CM PMID:18936790;PMID:20372153 Cutaneous melanoma
KIT:788-828 MUT Responsive KIT mutation in exon 17 RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Pre-clinical KIT GIST PMID:23840364 Gastrointestinal stromal
KIT:D820E MUT Responsive KIT (D820E) RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Case report KIT THYM PMID:19461405 chr4:g.55599334T>G c.2460T>G KIT:D820E CSQN=Missense;reference_codon=GAT;candidate_codons=GAG,GAA;candidate_snv_variants=chr4:g.55599334T>A;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_17] + ENST00000288135 Thymic
KIT::wildtype:. MUT Responsive KIT wildtype RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Late trials KIT GIST PMID:18955458 Gastrointestinal stromal
KIT:449-514,550-592,627-664,664-714,788-828 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Approved FDA guidelines KIT GIST FDA Gastrointestinal stromal
KIT:550-592 MUT Resistant KIT mutation in exon 11 RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Late trials KIT GIST PMID:18955458 Gastrointestinal stromal
KIT:550-592,627-664 MUT Responsive KIT mutation in exon 9,11,13,14 or 17 RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Late trials KIT CM PMID:18421059;PMID:21642685;PMID:21690468;PMID:22261812 Cutaneous melanoma
KIT:788-828 MUT Resistant KIT mutation in exon 17 RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Pre-clinical KIT GIST PMID:23840364 Gastrointestinal stromal
KIT:H697Y MUT Responsive KIT (H697Y) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Pre-clinical KIT THYM PMID:19861435 chr4:g.55595599C>T c.2089C>T KIT:H697Y CSQN=Missense;reference_codon=CAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55595599_55595601delCATinsTAC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_14] + ENST00000288135 Thymic
KIT:H697Y MUT Responsive KIT (H697Y) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Pre-clinical KIT THYM PMID:19861435 chr4:g.55595599C>T c.2089C>T KIT:H697Y CSQN=Missense;reference_codon=CAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55595599_55595601delCATinsTAC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_14] + ENST00000288135 Thymic
KIT:Y553N MUT Responsive KIT (Y553N) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Case report KIT THYM PMID:23375402 chr4:g.55593591T>A c.1657T>A KIT:Y553N CSQN=Missense;reference_codon=TAT;candidate_codons=AAC,AAT;candidate_mnv_variants=chr4:g.55593591_55593593delTATinsAAC;aliases=ENSP00000288135;source=Ensembl inside_[cds_in_exon_11] + ENST00000288135 Thymic
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [BET inhibitor] BET inhibitors Pre-clinical KRAS L PMID:23129625;PMID:24045185 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [CDK4 inhibitor] CDK4 inhibitors Pre-clinical KRAS L PMID:20609353 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [CDK4/6 inhibitor;MEK inhibitor] CDK4/6 inhibitor + MEK inhibitors Early trials KRAS L AACR 2017 (CT046) Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [CDK4/6 inhibitor;MEK inhibitor] CDK4/6 inhibitor + MEK inhibitors Pre-clinical KRAS CESC PMID:27167191 Cervix squamous cell
KRAS:. MUT Resistant KRAS oncogenic mutation RDientsmann [] [EGFR inhibitor 1st gen] EGFR inhibitor 1st gens NCCN guidelines KRAS L PMID:20921461 Lung
KRAS:. MUT Resistant KRAS oncogenic mutation RDientsmann [] [EGFR inhibitor 2nd gen] EGFR inhibitor 2nd gens NCCN guidelines KRAS L PMID:20921461 Lung
KRAS:. MUT Resistant KRAS oncogenic mutation DTamborero [] [EGFR inhibitor] EGFR inhibitors Pre-clinical KRAS NSCLC PMID:19238210 Non-small cell lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [EGFR mAb inhibitor;MEK inhibitor] EGFR mAb inhibitor + MEK inhibitors Pre-clinical KRAS COREAD PMID:24553387 Colorectal adenocarcinoma
KRAS:. MUT Resistant KRAS oncogenic mutation RDientsmann [] [EGFR mAb inhibitor] EGFR mAb inhibitors Pre-clinical KRAS ST PMID:22614881;PMID:22290393 Stomach
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [ERK inhibitor] ERK inhibitors Pre-clinical KRAS COREAD PMID:23614898 Colorectal adenocarcinoma
KRAS:. MUT Resistant KRAS oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Pre-clinical KRAS CANCER PMID:26552009 Any cancer type
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [FAK inhibitor] FAK inhibitors Pre-clinical KRAS L PMID:23358651 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [FAS inhibitor] FAS inhibitors Case report KRAS L AACR 2016;abstr Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [FAS inhibitor] FAS inhibitors Case report KRAS L AACR 2016, abstr LB214 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [HSP90 inhibitor (in combination)] HSP90 inhibitor (in combination)s Pre-clinical KRAS L PMID:23012248;PMID:21907929 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [JAK/TBK1/IKKε inhibitor] JAK/TBK1/IKKε inhibitors Pre-clinical KRAS L PMID:24444711 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [MEK inhibitor;BCL-XL inhibitor] MEK inhibitor + BCL-XL inhibitors Pre-clinical KRAS COREAD PMID:23245996 Colorectal adenocarcinoma
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [MEK inhibitor;IGF1R inhibitor] MEK inhibitor + IGF1R inhibitors Pre-clinical KRAS COREAD PMID:24045180 Colorectal adenocarcinoma
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [MEK inhibitor;PI3K pathway inhibitor] MEK inhibitor + PI3K pathway inhibitors Pre-clinical KRAS COREAD PMID:22392911 Colorectal adenocarcinoma
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Early trials KRAS L;BT PMID:23200175;PMID:24947927;PMID:25667274;PMID:25722381;PMID:23391555 Lung;Billiary tract
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical KRAS AML;CER;OV PMID:22507781;PMID:22169769;PMID:19018267 Acute myeloid leukemia;Cervix;Ovary
KRAS:G12. MUT Responsive KRAS (G12) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical KRAS ALL PMID:18701506 Acute lymphoblastic leukemia
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [MTOR inhibitor;BH3 mimetics] MTOR inhibitor + BH3 mimeticss Pre-clinical KRAS COREAD PMID:24163374 Colorectal adenocarcinoma
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [pan-RAF inhibitor] pan-RAF inhibitors Early trials KRAS L AACR 2017 (abstr CT002) Lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [pan-RAF inhibitor] pan-RAF inhibitors Case report KRAS ED AACR 2016 (abstr CT005);AACR 2017 (abstr CT002) Endometrium
KRAS:. MUT No Responsive KRAS oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Early trials KRAS PA ASCO 2015 (abstr 4119) Pancreas
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical KRAS ED PMID:21984976;PMID:22662154 Endometrium
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Early trials KRAS L PMID:25516890 Lung
KRAS:. MUT Resistant KRAS oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Pre-clinical KRAS ED PMID:22662154 Endometrium
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann;DTamborero;CRubio-Perez Abemaciclib CDK4/6 inhibitor Abemaciclib (CDK4/6 inhibitor) Early trials KRAS L PMID:27217383 Lung
KRAS:. MUT Resistant KRAS oncogenic mutation CRubio-Perez;RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Approved FDA guidelines KRAS COREAD FDA guidelines Colorectal adenocarcinoma
KRAS:G13D MUT No Responsive KRAS (G13D) RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Late trials KRAS COREAD PMID:27114605 chr12:g.25398281C>T c.38G>A KRAS:G13D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr12:g.25398280_25398281delGCinsAT;aliases=ENSP00000256078;source=Ensembl inside_[cds_in_exon_2] - ENST00000256078 Colorectal adenocarcinoma
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann Decitabine;BCL2 inhibitor Chemotherapy;BCL2 inhibitor Decitabine + BCL2 inhibitor (Chemotherapy + BCL2 inhibitor) Pre-clinical KRAS OV PMID:25968887 Ovary
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann Gemcitabine;MEK inhibitor Chemotherapy;MEK inhibitor Gemcitabine + MEK inhibitor (Chemotherapy + MEK inhibitor) Early trials KRAS PA PMID:23583440 Pancreas
KRAS:G12. MUT Resistant KRAS (G12) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Case report KRAS GIST PMID:24687822 Gastrointestinal stromal
KRAS:. MUT Resistant KRAS oncogenic mutation CRubio-Perez;RDientsmann Panitumumab EGFR mAb inhibitor Panitumumab (EGFR mAb inhibitor) Approved FDA guidelines KRAS COREAD FDA guidelines Colorectal adenocarcinoma
KRAS:. MUT Resistant KRAS oncogenic mutation CRubio-Perez;RDientsmann Regorafenib Pan-kinase inhibitor Regorafenib (Pan-kinase inhibitor) FDA guidelines KRAS COREAD COREAD FDA guidelines Colorectal adenocarcinoma
KRAS:. MUT No Responsive KRAS oncogenic mutation RDientsmann Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Early trials KRAS L PMID:26802155 Lung
KRAS:. MUT Responsive KRAS oncogenic mutation EArriola Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Clinical Trials Early trials KRAS NSCLC NCT00890825 Non-small cell lung
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann Sorafenib;MEK inhibitor Pan-TK inhibitor;MEK inhibitor Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor) Early Trials,Case Report KRAS HC PMID:25294897 Hepatic carcinoma
KRAS:. MUT Responsive KRAS oncogenic mutation RDientsmann Trametinib;Ponatinib MEK inhibitor;BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Trametinib + Ponatinib (MEK inhibitor + BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical KRAS LUAD PMID:27338794 Lung adenocarcinoma
KRAS:. MUT Resistant KRAS oncogenic mutation RDientsmann Trastuzumab;Lapatinib ERBB2 mAb inhibitor;ERBB2 inhibitor Trastuzumab + Lapatinib (ERBB2 mAb inhibitor + ERBB2 inhibitor) Late trials KRAS COREAD ASCO 2015 (abstr 3508);NCT01104571;EBCC10 Colorectal adenocarcinoma
LRP1B:. MUT Resistant LRP1B oncogenic mutation RDientsmann Liposomal Doxorubicin Chemotherapy Liposomal Doxorubicin (Chemotherapy) Early trials LRP1B OV PMID:22896685 Ovary
MAP2K1:P124. MUT Resistant MAP2K1 (P124) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Early trials MAP2K1 CM PMID:25370473 Cutaneous melanoma
MAP2K1:Q56P,P124S,P124L;C121S MUT Resistant MAP2K1 (Q56P,P124S,P124L;C121S) RDientsmann;DTamborero [] [BRAF inhibitor] BRAF inhibitors Case report MAP2K1 CM PMID:19915144;PMID:21383288 Cutaneous melanoma
MAP2K1:. MUT Resistant MAP2K1 oncogenic mutation RDientsmann [] [EGFR mAb inhibitor] EGFR mAb inhibitors Case report MAP2K1 COREAD PMID:26030179 Colorectal adenocarcinoma
MAP2K1:F129L,L215P,I103N,P124. MUT Responsive MAP2K1 (F129L,L215P,I103N,P124) RDientsmann [] [ERK inhibitor] ERK inhibitors Pre-clinical MAP2K1 CANCER PMID:23614898 Any cancer type
MAP2K1:P124. MUT Responsive MAP2K1 (P124) RDientsmann [] [ERK inhibitor] ERK inhibitors Pre-clinical MAP2K1 CM PMID:25370473 Cutaneous melanoma
MAP2K1:I99T,L115.,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124.,D67N MUT Resistant MAP2K1 (I99T,L115,G128D,F129L,V211D,L215P,I103N,K104N,I111N,H119P,E120D,F133L,P124,D67N) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical MAP2K1 CANCER PMID:19915144 Any cancer type
MAP2K1:P124L,K57N,C121S MUT Resistant MAP2K1 (P124L,K57N,C121S) RDientsmann [] [MEK inhibitor] MEK inhibitors Case report MAP2K1 CM PMID:19915144;PMID:23444215;PMID:21383288 chr15:g.66729163C>T c.371C>T MAP2K1:P124L CSQN=Missense;reference_codon=CCG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr15:g.66729163_66729164delCGinsTT,chr15:g.66729163_66729164delCGinsTA,chr15:g.66729163_66729164delCGinsTC,chr15:g.66729162_66729163delCCinsTT,chr15:g.66729162_66729164delCCGinsTTA;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_3] + ENST00000307102 Cutaneous melanoma
MAP2K1:P124L,K57N,C121S MUT Resistant MAP2K1 (P124L,K57N,C121S) RDientsmann [] [MEK inhibitor] MEK inhibitors Case report MAP2K1 CM PMID:19915144;PMID:23444215;PMID:21383288 chr15:g.66727455G>C c.171G>C MAP2K1:K57N CSQN=Missense;reference_codon=AAG;candidate_codons=AAC,AAT;candidate_snv_variants=chr15:g.66727455G>T;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_2] + ENST00000307102 Cutaneous melanoma
MAP2K1:P124L,K57N,C121S MUT Resistant MAP2K1 (P124L,K57N,C121S) RDientsmann [] [MEK inhibitor] MEK inhibitors Case report MAP2K1 CM PMID:19915144;PMID:23444215;PMID:21383288 chr15:g.66729153T>A c.361T>A MAP2K1:C121S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chr15:g.66729154G>C;candidate_mnv_variants=chr15:g.66729153_66729155delTGCinsAGT,chr15:g.66729154_66729155delGCinsCT,chr15:g.66729154_66729155delGCinsCG,chr15:g.66729154_66729155delGCinsCA;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_3] + ENST00000307102 Cutaneous melanoma
MAP2K1:Q56P,P124S,P124L MUT Resistant MAP2K1 (Q56P,P124S,P124L) DTamborero [] [MEK inhibitor] MEK inhibitors Case report MAP2K1 CM PMID:19915144 chr15:g.66727451A>C c.167A>C MAP2K1:Q56P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr15:g.66727451_66727452delAGinsCT,chr15:g.66727451_66727452delAGinsCA,chr15:g.66727451_66727452delAGinsCC;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_2] + ENST00000307102 Cutaneous melanoma
MAP2K1:Q56P,P124S,P124L MUT Resistant MAP2K1 (Q56P,P124S,P124L) DTamborero [] [MEK inhibitor] MEK inhibitors Case report MAP2K1 CM PMID:19915144 chr15:g.66729162C>T c.370C>T MAP2K1:P124S CSQN=Missense;reference_codon=CCG;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr15:g.66729162_66729164delCCGinsTCT,chr15:g.66729162_66729164delCCGinsTCC,chr15:g.66729162_66729164delCCGinsTCA,chr15:g.66729162_66729164delCCGinsAGC,chr15:g.66729162_66729164delCCGinsAGT;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_3] + ENST00000307102 Cutaneous melanoma
MAP2K1:Q56P,P124S,P124L MUT Resistant MAP2K1 (Q56P,P124S,P124L) DTamborero [] [MEK inhibitor] MEK inhibitors Case report MAP2K1 CM PMID:19915144 chr15:g.66729163C>T c.371C>T MAP2K1:P124L CSQN=Missense;reference_codon=CCG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr15:g.66729163_66729164delCGinsTT,chr15:g.66729163_66729164delCGinsTA,chr15:g.66729163_66729164delCGinsTC,chr15:g.66729162_66729163delCCinsTT,chr15:g.66729162_66729164delCCGinsTTA;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_3] + ENST00000307102 Cutaneous melanoma
MAP2K1:C121S MUT Responsive MAP2K1 (C121S) RDientsmann [] [novel MEK inhibitor] novel MEK inhibitors Pre-clinical MAP2K1 CM PMID:24448821 chr15:g.66729153T>A c.361T>A MAP2K1:C121S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chr15:g.66729154G>C;candidate_mnv_variants=chr15:g.66729153_66729155delTGCinsAGT,chr15:g.66729154_66729155delGCinsCT,chr15:g.66729154_66729155delGCinsCG,chr15:g.66729154_66729155delGCinsCA;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_3] + ENST00000307102 Cutaneous melanoma
MAP2K1:K57T MUT Responsive MAP2K1 (K57T) RDientsmann Panitumumab;Trametinib EGFR mAb inhibitor;MEK inhibitor Panitumumab + Trametinib (EGFR mAb inhibitor + MEK inhibitor) Case report MAP2K1 COREAD PMID:26644315 chr15:g.66727454A>C c.170A>C MAP2K1:K57T CSQN=Missense;reference_codon=AAG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr15:g.66727454_66727455delAGinsCA,chr15:g.66727454_66727455delAGinsCT,chr15:g.66727454_66727455delAGinsCC;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_2] + ENST00000307102 Colorectal adenocarcinoma
MAP2K1::consequence::inframe_deletion:56-60 MUT Responsive MAP2K1 inframe deletion (56-60) RDientsmann Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Case report MAP2K1 OV PMID:26324360 Ovary
MAP2K1:Q56P MUT Responsive MAP2K1 (Q56P) RDientsmann Trametinib MEK inhibitor Trametinib (MEK inhibitor) Pre-clinical MAP2K1 CANCER PMID:26582713 chr15:g.66727451A>C c.167A>C MAP2K1:Q56P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr15:g.66727451_66727452delAGinsCT,chr15:g.66727451_66727452delAGinsCA,chr15:g.66727451_66727452delAGinsCC;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_2] + ENST00000307102 Any cancer type
MAP2K1:E203K,Q56P,K57E MUT Resistant MAP2K1 (E203K,Q56P,K57E) RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Case report MAP2K1 CM PMID:23569304 chr15:g.66774131G>A c.607G>A MAP2K1:E203K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr15:g.66774131_66774133delGAGinsAAA;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_6] + ENST00000307102 Cutaneous melanoma
MAP2K1:E203K,Q56P,K57E MUT Resistant MAP2K1 (E203K,Q56P,K57E) RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Case report MAP2K1 CM PMID:23569304 chr15:g.66727451A>C c.167A>C MAP2K1:Q56P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr15:g.66727451_66727452delAGinsCT,chr15:g.66727451_66727452delAGinsCA,chr15:g.66727451_66727452delAGinsCC;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_2] + ENST00000307102 Cutaneous melanoma
MAP2K1:E203K,Q56P,K57E MUT Resistant MAP2K1 (E203K,Q56P,K57E) RDientsmann Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Case report MAP2K1 CM PMID:23569304 chr15:g.66727453A>G c.169A>G MAP2K1:K57E CSQN=Missense;reference_codon=AAG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr15:g.66727453_66727455delAAGinsGAA;aliases=ENSP00000302486;source=Ensembl inside_[cds_in_exon_2] + ENST00000307102 Cutaneous melanoma
MAP2K2:Q60P MUT Resistant MAP2K2 (Q60P) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Case report MAP2K2 CM PMID:24265154 chr19:g.4117541T>G c.179A>C MAP2K2:Q60P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr19:g.4117540_4117541delCTinsAG,chr19:g.4117540_4117541delCTinsTG,chr19:g.4117540_4117541delCTinsGG;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_2] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4117617C>T c.103G>A MAP2K2:V35M CSQN=Missense;reference_codon=GTG;candidate_codons=ATG;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_2] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4117584G>A c.136C>T MAP2K2:L46F CSQN=Missense;reference_codon=CTT;candidate_codons=TTT,TTC;candidate_mnv_variants=chr19:g.4117582_4117584delAAGinsGAA;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_2] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4110581T>C c.376A>G MAP2K2:N126D CSQN=Missense;reference_codon=AAC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr19:g.4110579_4110581delGTTinsATC;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_3] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4110584A>T c.373T>A MAP2K2:C125S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chr19:g.4110583C>G;candidate_mnv_variants=chr19:g.4110582_4110584delGCAinsACT,chr19:g.4110582_4110583delGCinsAG,chr19:g.4110582_4110583delGCinsCG,chr19:g.4110582_4110583delGCinsTG;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_3] - ENST00000262948 Cutaneous melanoma
MAP2K2:Q60P MUT Resistant MAP2K2 (Q60P) RDientsmann [] [MEK inhibitor] MEK inhibitors Case report MAP2K2 CM PMID:24265154 chr19:g.4117541T>G c.179A>C MAP2K2:Q60P CSQN=Missense;reference_codon=CAG;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr19:g.4117540_4117541delCTinsAG,chr19:g.4117540_4117541delCTinsTG,chr19:g.4117540_4117541delCTinsGG;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_2] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4117617C>T c.103G>A MAP2K2:V35M CSQN=Missense;reference_codon=GTG;candidate_codons=ATG;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_2] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4117584G>A c.136C>T MAP2K2:L46F CSQN=Missense;reference_codon=CTT;candidate_codons=TTT,TTC;candidate_mnv_variants=chr19:g.4117582_4117584delAAGinsGAA;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_2] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4110581T>C c.376A>G MAP2K2:N126D CSQN=Missense;reference_codon=AAC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr19:g.4110579_4110581delGTTinsATC;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_3] - ENST00000262948 Cutaneous melanoma
MAP2K2:V35M,L46F,N126D,C125S MUT Resistant MAP2K2 (V35M,L46F,N126D,C125S) RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical MAP2K2 CM PMID:24265153 chr19:g.4110584A>T c.373T>A MAP2K2:C125S CSQN=Missense;reference_codon=TGC;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_snv_variants=chr19:g.4110583C>G;candidate_mnv_variants=chr19:g.4110582_4110584delGCAinsACT,chr19:g.4110582_4110583delGCinsAG,chr19:g.4110582_4110583delGCinsCG,chr19:g.4110582_4110583delGCinsTG;aliases=ENSP00000262948;source=Ensembl inside_[cds_in_exon_3] - ENST00000262948 Cutaneous melanoma
MET:1078-1345 MUT Responsive MET kinase domain mutation RDientsmann Savolitinib MET inhibitor Savolitinib (MET inhibitor) Early trials MET R PMID:28644771 Renal
MET:D1246V MUT Resistant MET (D1246V) RDientsmann [] [MET inhibitor] MET inhibitors Case report MET LUAD PMID:27694386 chr7:g.116423408A>T c.3737A>T MET:D1246V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr7:g.116423408_116423409delACinsTA,chr7:g.116423408_116423409delACinsTG,chr7:g.116423408_116423409delACinsTT;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_19] + ENST00000318493 Lung adenocarcinoma
MET:H1112R MUT Responsive MET (H1112R) RDientsmann [] [MET inhibitor] MET inhibitors Early trials MET R PMID:23213094 chr7:g.116417464A>G c.3335A>G MET:H1112R CSQN=Missense;reference_codon=CAT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.116417464_116417465delATinsGA,chr7:g.116417464_116417465delATinsGC,chr7:g.116417464_116417465delATinsGG,chr7:g.116417463_116417465delCATinsAGG,chr7:g.116417463_116417465delCATinsAGA;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_16] + ENST00000318493 Renal
MET:M1268T MUT Responsive MET (M1268T) RDientsmann [] [MET inhibitor] MET inhibitors Case report MET R PMID:23610116 chr7:g.116423474T>C c.3803T>C MET:M1268T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr7:g.116423474_116423475delTGinsCA,chr7:g.116423474_116423475delTGinsCT,chr7:g.116423474_116423475delTGinsCC;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_19] + ENST00000318493 Renal
MET:H1112L MUT Responsive MET (H1112L) RDientsmann [Crizotinib] [MET inhibitor] MET inhibitors (Crizotinib,etc) Pre-clinical MET CANCER AACR 2012 (abstr 1786) chr7:g.116417464A>T c.3335A>T MET:H1112L CSQN=Missense;reference_codon=CAT;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr7:g.116417464_116417465delATinsTG,chr7:g.116417464_116417465delATinsTA,chr7:g.116417464_116417465delATinsTC,chr7:g.116417463_116417465delCATinsTTA,chr7:g.116417463_116417465delCATinsTTG;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_16] + ENST00000318493 Any cancer type
MET:1132-1330 MUT Responsive MET mutation in exon 16-19 RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Early trials MET R AACR 2016 (abstr CT2006) Renal
MET:V1110I,H1112R,M1268T,R988C,T1010I MUT Responsive MET (V1110I,H1112R,M1268T,R988C,T1010I) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical MET CANCER PMID:17483355 chr7:g.116417457G>A c.3328G>A MET:V1110I CSQN=Missense;reference_codon=GTA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.116417457_116417459delGTAinsATC,chr7:g.116417457_116417459delGTAinsATT;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_16] + ENST00000318493 Any cancer type
MET:V1110I,H1112R,M1268T,R988C,T1010I MUT Responsive MET (V1110I,H1112R,M1268T,R988C,T1010I) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical MET CANCER PMID:17483355 chr7:g.116417464A>G c.3335A>G MET:H1112R CSQN=Missense;reference_codon=CAT;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr7:g.116417464_116417465delATinsGA,chr7:g.116417464_116417465delATinsGC,chr7:g.116417464_116417465delATinsGG,chr7:g.116417463_116417465delCATinsAGG,chr7:g.116417463_116417465delCATinsAGA;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_16] + ENST00000318493 Any cancer type
MET:V1110I,H1112R,M1268T,R988C,T1010I MUT Responsive MET (V1110I,H1112R,M1268T,R988C,T1010I) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical MET CANCER PMID:17483355 chr7:g.116423474T>C c.3803T>C MET:M1268T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr7:g.116423474_116423475delTGinsCA,chr7:g.116423474_116423475delTGinsCT,chr7:g.116423474_116423475delTGinsCC;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_19] + ENST00000318493 Any cancer type
MET:V1110I,H1112R,M1268T,R988C,T1010I MUT Responsive MET (V1110I,H1112R,M1268T,R988C,T1010I) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical MET CANCER PMID:17483355 chr7:g.116411923C>T c.2962C>T MET:R988C CSQN=Missense;reference_codon=CGC;candidate_codons=TGT,TGC;candidate_mnv_variants=chr7:g.116411923_116411925delCGCinsTGT;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_14] + ENST00000318493 Any cancer type
MET:V1110I,H1112R,M1268T,R988C,T1010I MUT Responsive MET (V1110I,H1112R,M1268T,R988C,T1010I) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical MET CANCER PMID:17483355 chr7:g.116411990C>T c.3029C>T MET:T1010I CSQN=Missense;reference_codon=ACT;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr7:g.116411990_116411991delCTinsTC,chr7:g.116411990_116411991delCTinsTA;aliases=ENSP00000317272;source=Ensembl inside_[cds_in_exon_14] + ENST00000318493 Any cancer type
MET:Y1230C;Y1235D MUT Resistant MET (Y1230C;Y1235D) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Pre-clinical MET CANCER PMID:17483355 Any cancer type
MLL2:. MUT Responsive MLL2 oncogenic mutation RDientsmann Bicalutamide AR inhibitor Bicalutamide (AR inhibitor) Pre-clinical MLL2 LUSC PMID:27397505 Lung squamous cell
MPL:W515F MUT Responsive MPL (W515F) RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical MPL MDPS PMID:16834459 chr1:g.43815009_43815010delGGinsTT c.1544_1545delGGinsTT MPL:W515F CSQN=Missense;reference_codon=TGG;candidate_codons=TTT,TTC;candidate_mnv_variants=chr1:g.43815009_43815010delGGinsTC;aliases=ENSP00000361548;source=Ensembl inside_[cds_in_exon_10] + ENST00000372470 Myelodisplasic proliferative syndrome
MSH3:. MUT Responsive MSH3 oncogenic mutation RDientsmann [] [DNA-PKc inhibitor] DNA-PKc inhibitors Pre-clinical MSH3 CANCER PMID:24556366 Any cancer type
MTOR:F2108L MUT Responsive MTOR (F2108L) RDientsmann [] [MTOR kinase inhibitor] MTOR kinase inhibitors Pre-clinical MTOR CANCER PMID:25295501 chr1:g.11187096A>G c.6322T>C MTOR:F2108L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr1:g.11187094G>T,chr1:g.11187094G>C;candidate_mnv_variants=chr1:g.11187094_11187096delGAAinsAAG,chr1:g.11187094_11187096delGAAinsCAG,chr1:g.11187094_11187096delGAAinsTAG;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_45] - ENST00000361445 Any cancer type
MTOR:E2014K,E2419K,N1421D MUT Responsive MTOR (E2014K,E2419K,N1421D) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR BLCA PMID:24625776 chr1:g.11187857C>T c.6040G>A MTOR:E2014K CSQN=Missense;reference_codon=GAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr1:g.11187855_11187857delCTCinsTTT;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_44] - ENST00000361445 Bladder
MTOR:E2014K,E2419K,N1421D MUT Responsive MTOR (E2014K,E2419K,N1421D) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR BLCA PMID:24625776 chr1:g.11174420C>T c.7255G>A MTOR:E2419K CSQN=Missense;reference_codon=GAA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr1:g.11174418_11174420delTTCinsCTT;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_53] - ENST00000361445 Bladder
MTOR:E2014K,E2419K,N1421D MUT Responsive MTOR (E2014K,E2419K,N1421D) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR BLCA PMID:24625776 chr1:g.11227567T>C c.4261A>G MTOR:N1421D CSQN=Missense;reference_codon=AAT;candidate_codons=GAC,GAT;candidate_mnv_variants=chr1:g.11227565_11227567delATTinsGTC;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_29] - ENST00000361445 Bladder
MTOR:F2108L MUT Resistant MTOR (F2108L) DTamborero;RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR THCA PMID:25295501 chr1:g.11187096A>G c.6322T>C MTOR:F2108L CSQN=Missense;reference_codon=TTC;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_snv_variants=chr1:g.11187094G>T,chr1:g.11187094G>C;candidate_mnv_variants=chr1:g.11187094_11187096delGAAinsAAG,chr1:g.11187094_11187096delGAAinsCAG,chr1:g.11187094_11187096delGAAinsTAG;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_45] - ENST00000361445 Thyroid carcinoma
MTOR:I1973F MUT Responsive MTOR (I1973F) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR AS;R ASCO 2015 (abstr 11010);PMID:26859683 chr1:g.11188177T>A c.5917A>T MTOR:I1973F CSQN=Missense;reference_codon=ATC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr1:g.11188175_11188177delGATinsAAA;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_43] - ENST00000361445 Angiosarcoma;Renal
MTOR:K1771R MUT Responsive MTOR (K1771R) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR ST;AG ASCO 2015 (abstr 11010);PMID:26859683 chr1:g.11193189T>C c.5312A>G MTOR:K1771R CSQN=Missense;reference_codon=AAA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_mnv_variants=chr1:g.11193188_11193189delTTinsCC,chr1:g.11193189_11193190delTTinsCG,chr1:g.11193188_11193190delTTTinsGCG,chr1:g.11193188_11193190delTTTinsCCG,chr1:g.11193188_11193190delTTTinsACG;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_38] - ENST00000361445 Stomach;Anaplastic oligodendroglioma
MTOR:N1421D MUT Responsive MTOR (N1421D) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR ST PMID:26859683 chr1:g.11227567T>C c.4261A>G MTOR:N1421D CSQN=Missense;reference_codon=AAT;candidate_codons=GAC,GAT;candidate_mnv_variants=chr1:g.11227565_11227567delATTinsGTC;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_29] - ENST00000361445 Stomach
MTOR:Q2223K MUT Responsive MTOR (Q2223K) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report MTOR R PMID:24622468 chr1:g.11182179G>T c.6667C>A MTOR:Q2223K CSQN=Missense;reference_codon=CAG;candidate_codons=AAG,AAA;candidate_mnv_variants=chr1:g.11182177_11182179delCTGinsTTT;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_48] - ENST00000361445 Renal
MTOR:L1460P,S2215Y,R2505P MUT Responsive MTOR (L1460P,S2215Y,R2505P) RDientsmann Sirolimus MTOR inhibitor Sirolimus (MTOR inhibitor) Pre-clinical MTOR CANCER PMID:24631838 chr1:g.11217299A>G c.4379T>C MTOR:L1460P CSQN=Missense;reference_codon=CTT;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr1:g.11217298_11217299delAAinsCG,chr1:g.11217298_11217299delAAinsTG,chr1:g.11217298_11217299delAAinsGG;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_30] - ENST00000361445 Any cancer type
MTOR:L1460P,S2215Y,R2505P MUT Responsive MTOR (L1460P,S2215Y,R2505P) RDientsmann Sirolimus MTOR inhibitor Sirolimus (MTOR inhibitor) Pre-clinical MTOR CANCER PMID:24631838 chr1:g.11184573G>T c.6644C>A MTOR:S2215Y CSQN=Missense;reference_codon=TCT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr1:g.11184572_11184573delAGinsGT;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_47] - ENST00000361445 Any cancer type
MTOR:L1460P,S2215Y,R2505P MUT Responsive MTOR (L1460P,S2215Y,R2505P) RDientsmann Sirolimus MTOR inhibitor Sirolimus (MTOR inhibitor) Pre-clinical MTOR CANCER PMID:24631838 chr1:g.11169361C>G c.7514G>C MTOR:R2505P CSQN=Missense;reference_codon=CGA;candidate_codons=CCT,CCG,CCA,CCC;candidate_mnv_variants=chr1:g.11169360_11169361delTCinsAG,chr1:g.11169360_11169361delTCinsCG,chr1:g.11169360_11169361delTCinsGG;aliases=ENSP00000354558;source=Ensembl inside_[cds_in_exon_56] - ENST00000361445 Any cancer type
MYD88:L265P MUT Responsive MYD88 (L265P) RDientsmann Ibrutinib BTK inhibitor Ibrutinib (BTK inhibitor) FDA guidelines MYD88 WM PMID:25853747 MYD88:L265P Waldenström macroglobulinemia
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [AURK inhibitor] AURK inhibitors Pre-clinical NF1 MPN PMID:24373973 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [BRD4 inhibitor] BRD4 inhibitors Pre-clinical NF1 MPN PMID:24373973 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [KIT inhibitor;MTOR inhibitor] KIT inhibitor + MTOR inhibitors Pre-clinical NF1 MPN PMID:24718867 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical NF1 MPN PMID:23221341 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical NF1 G;LK PMID:22573716;PMID:19727076 Glioma;Leukemia
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [MTOR inhibitor;HSP90 inhibitor] MTOR inhibitor + HSP90 inhibitors Pre-clinical NF1 MPN PMID:21907929 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical NF1 G;MPN;LK PMID:19573811;PMID:18483311;PMID:20505189;PMID:24509877 Glioma;Malignant peripheral nerve sheat tumor;Leukemia
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [Pan-RAF inhibitor;MEK inhibitor] Pan-RAF inhibitor + MEK inhibitors Pre-clinical NF1 CM PMID:26351322 Cutaneous melanoma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann [] [PD1 Ab inhibitor] PD1 Ab inhibitors Early trials NF1 CM ASCO 2016 (abstr 105) Cutaneous melanoma
NF1:. MUT Resistant NF1 oncogenic mutation RDientsmann [] [Retinoic Acid] Retinoic Acids Pre-clinical NF1 NB PMID:20655465 Neuroblastoma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Bevacizumab VEGFR mAb inhibitor Bevacizumab (VEGFR mAb inhibitor) Case report NF1 G PMID:24232489;PMID:2485933 Glioma
NF1:. MUT No Responsive NF1 oncogenic mutation RDientsmann Cediranib ALK inhibitor Cediranib (ALK inhibitor) Early trials NF1 PLEN NCT00326872 Plexiform neurofibroma
NF1:. MUT Resistant NF1 oncogenic mutation RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical NF1 L PMID:24296828 Lung
NF1:. MUT Resistant NF1 oncogenic mutation RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Pre-clinical NF1 L PMID:24535670 Lung
NF1:. MUT No Responsive NF1 oncogenic mutation RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Early trials NF1 MPN NCT01365468 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report NF1 HNC;SG PMID:26859683;ASCO 2016 (abstr e17557) Head an neck;Salivary glands
NF1:. MUT Responsive NF1 oncogenic mutation MMartínez Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Approved Late trials NF1 NF NCT01365468 Indirect Neurofibroma
NF1:D1644A MUT Responsive NF1 (D1644A) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report NF1 HNC ASCO 2015 (abstr 11010);PMID:26859683 chr17:g.29652933A>C c.4931A>C NF1:D1644A CSQN=Missense;reference_codon=GAC;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr17:g.29652933_29652934delACinsCA,chr17:g.29652933_29652934delACinsCG,chr17:g.29652933_29652934delACinsCT;aliases=ENSP00000351015;source=Ensembl inside_[cds_in_exon_37] + ENST00000358273 Head an neck
NF1:. MUT No Responsive NF1 oncogenic mutation RDientsmann Everolimus;Bevacizumab MTOR inhibitor;VEGFR mAb inhibitor Everolimus + Bevacizumab (MTOR inhibitor + VEGFR mAb inhibitor) Early trials NF1 MPN ASCO 2016 (abstr 11053) Malignant peripheral nerve sheat tumor
NF1:. MUT No Responsive NF1 oncogenic mutation RDientsmann Everolimus;Erlotinib MTOR inhibitor;EGFR inhibitor 1st gen Everolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen) Case report NF1 G PMID:24634382 Glioma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Everolimus;Pazopanib MTOR inhibitor;VEGFR inhibitor Everolimus + Pazopanib (MTOR inhibitor + VEGFR inhibitor) Case report NF1 HC PMID:24931142 Hepatic carcinoma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Early trials NF1 PLEN PMID:23099009 Plexiform neurofibroma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Nilotinib BCR-ABL inhibitor 2nd gen Nilotinib (BCR-ABL inhibitor 2nd gen) Pre-clinical NF1 PLEN;MPN PMID:24173684 Plexiform neurofibroma;Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann PLX3397 Pan-TK inhibitor PLX3397 (Pan-TK inhibitor) Pre-clinical NF1 PLEN PMID:23099891 Plexiform neurofibroma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Selumetinib MEK inhibitor Selumetinib (MEK inhibitor) Early trials NF1 PLEN ASCO 2014 (abstr 10018) Plexiform neurofibroma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Sirolimus MTOR inhibitor Sirolimus (MTOR inhibitor) Early trials NF1 PLEN PMID:25314964 Plexiform neurofibroma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Sirolimus;Erlotinib MTOR inhibitor;EGFR inhibitor 1st gen Sirolimus + Erlotinib (MTOR inhibitor + EGFR inhibitor 1st gen) Case report NF1 G PMID:22434731 Glioma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Sorafenib;Sirolimus Pan-TK inhibitor;MTOR inhibitor Sorafenib + Sirolimus (Pan-TK inhibitor + MTOR inhibitor) Pre-clinical NF1 MPN PMID:25810463 Malignant peripheral nerve sheat tumor
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Tamoxifen Hormonal therapy Tamoxifen (Hormonal therapy) Pre-clinical NF1 MPN PMID:21075781 Malignant peripheral nerve sheat tumor
NF1:. MUT No Responsive NF1 oncogenic mutation RDientsmann Tipifarnib Farnesyltransferase inhibitor Tipifarnib (Farnesyltransferase inhibitor) Early trials NF1 PLEN PMID:24500418 Plexiform neurofibroma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Trametinib MEK inhibitor Trametinib (MEK inhibitor) Case report NF1 G PMID:26936308 Glioma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Trametinib MEK inhibitor Trametinib (MEK inhibitor) Pre-clinical NF1 CM PMID:24576830;PMID:2524381 Cutaneous melanoma
NF1:. MUT No Responsive NF1 oncogenic mutation RDientsmann Trametinib MEK inhibitor Trametinib (MEK inhibitor) Case report NF1 OS PMID:26325560 Osteosarcoma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Vinblastine Chemotherapy Vinblastine (Chemotherapy) Early trials NF1 G ASCO 2016 (abstr 2019) Glioma
NF1:. MUT Responsive NF1 oncogenic mutation RDientsmann Vinblastine;Nilotinib Chemotherapy;BCR-ABL inhibitor 2nd gen Vinblastine + Nilotinib (Chemotherapy + BCR-ABL inhibitor 2nd gen) Case report NF1 G ASCO 2016 (abstr 10555) Glioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [FAK inhibitor] FAK inhibitors Early trials NF2 MESO ENA 2012 (abstr 610) Mesothelioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [FAK inhibitor] FAK inhibitors Pre-clinical NF2 MESO;OV PMID:24848258;PMID:24786638 Mesothelioma;Ovary
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical NF2 MEN PMID:23714726 Meningioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical NF2 TH PMID:26359368 Thyroid
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical NF2 MEN PMID:19451225;PMID:2242646 Meningioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [PAK inhibitor] PAK inhibitors Pre-clinical NF2 SCHW;MEN PMID:23960073;PMID:25596744 Schwannoma;Meningioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann [] [PDK1 inhibitor] PDK1 inhibitors Pre-clinical NF2 SCHW PMID:19359162 Schwannoma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann AR42 HDAC inhibitor AR42 (HDAC inhibitor) Pre-clinical NF2 SCHW PMID:21778190 Schwannoma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann AR42 HDAC inhibitor AR42 (HDAC inhibitor) Early trials NF2 MEN ASCO 2016 (abstr 2558) Meningioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann Bevacizumab VEGFR mAb inhibitor Bevacizumab (VEGFR mAb inhibitor) Early trials NF2 SCHW PMID:19587327;PMID:22805104;PMID:26022982 Schwannoma
NF2:. MUT No Responsive NF2 oncogenic mutation RDientsmann Erlotinib EGFR inhibitor 1st gen Erlotinib (EGFR inhibitor 1st gen) Early trials NF2 SCHW PMID:20736812 Schwannoma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Early trials NF2 SCHW PMID:24311643;2556735 Schwannoma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann Everolimus;Octreotide MTOR inhibitor;Somatostatin analog Everolimus + Octreotide (MTOR inhibitor + Somatostatin analog) Pre-clinical NF2 MEN PMID:26015296 Meningioma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical NF2 SCHW PMID:19509233;PMID:2290085 Schwannoma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann;MMartínez Lapatinib ERBB2 inhibitor Lapatinib (ERBB2 inhibitor) Early trials NF2 SCHW;NF PMID:22844108;NCT00973739 Schwannoma;Neurofibroma
NF2:. MUT Responsive NF2 oncogenic mutation RDientsmann Tensirolimus;Chemotherapy MTOR inhibitor;Chemotherapy Tensirolimus + Chemotherapy (MTOR inhibitor + Chemotherapy) Case report NF2 BRCA PMID:25878190 Breast adenocarcinoma
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain RDientsmann [] [Gamma secretase inhibitor;CDK4 inhibitor] Gamma secretase inhibitor + CDK4 inhibitors Pre-clinical NOTCH1 ALL PMID:19318552 Acute lymphoblastic leukemia
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain RDientsmann [] [Gamma secretase inhibitor;MTOR inhibitor] Gamma secretase inhibitor + MTOR inhibitors Pre-clinical NOTCH1 ALL PMID:19246562 Acute lymphoblastic leukemia
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain RDientsmann [] [Gamma secretase inhibitor] Gamma secretase inhibitors Early trials NOTCH1 ALL ASCO 2006 (abstr 6585) Acute lymphoblastic leukemia
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain RDientsmann [] [Gamma secretase inhibitor] Gamma secretase inhibitors Pre-clinical NOTCH1 ALL PMID:15472075;PMID:19778842;PMID:22510873;PMID:23001755 Acute lymphoblastic leukemia
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain RDientsmann [] [Gamma secretase inhibitor] Gamma secretase inhibitors Pre-clinical NOTCH1 BRCA PMID:25564152 Breast adenocarcinoma
NOTCH1:. MUT Responsive NOTCH1 oncogenic mutation RDientsmann [] [Gamma secretase inhibitor] Gamma secretase inhibitors Pre-clinical NOTCH1 MCL PMID:22210878 Mantle cell lymphoma
NOTCH1::consequence::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 splice donor variant (2245-2536),splice acceptor variant (2245-2536),stop gained (2245-2536),stop lost (2245-2536),frameshift variant (2245-2536) RDientsmann [] [NOTCH1 inhibitor] NOTCH1 inhibitors Case report NOTCH1 ADCC PMID:27870570 Adenoid cystic carcinoma
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain ECampo [Ro4929097,Pf-03084014,Mk-0752] [Gamma secretase inhibitor] Gamma secretase inhibitors (Ro4929097,Pf-03084014,Mk-0752,etc) Clinical Trials Early trials NOTCH1 CANCER NCT01703572;NCT01778439; NCT01098344; NCT01981551 Indirect Any cancer type
NOTCH1::consequence::missense_variant:1529-1732,::splice_donor_variant:2245-2536,::splice_acceptor_variant:2245-2536,::stop_gained:2245-2536,::stop_lost:2245-2536,::frameshift_variant:2245-2536 MUT Responsive NOTCH1 activating mutation in Cterm-PEST domain ECampo OMP-52M51 NOTCH1 inhibitor OMP-52M51 (NOTCH1 inhibitor) Clinical Trials Early trials NOTCH1 CANCER NCT01703572;NCT01778439 Direct Any cancer type
NOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420 MUT Responsive NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) KKarube;RDientsmann Mk-0752 Gamma secretase inhibitor Mk-0752 (Gamma secretase inhibitor) Clinical Trials Early trials NOTCH2 BRCA;AML;ALL PMID:25564152 Direct Breast adenocarcinoma;Acute myeloid leukemia;Acute lymphoblastic leukemia
NOTCH2::consequence::splice_donor_variant:2381-2420,::splice_acceptor_variant:2381-2420,::stop_gained:2381-2420,::stop_lost:2381-2420,::frameshift_variant:2381-2420 MUT Responsive NOTCH2 activating mutation (missense in TAD or truncating in Cterm-PEST domain) ECampo OMP-59R5 NOTCH2 inhibitor OMP-59R5 (NOTCH2 inhibitor) Clinical Trials Early trials NOTCH2 SOLID NCT01859741;NCT01277146 Direct Solid tumors
NPM1:. MUT Responsive NPM1 oncogenic mutation RDientsmann [] [DOT1L inhibitors;MLL1 inhibitors] DOT1L inhibitors + MLL1 inhibitors Pre-clinical NPM1 AML PMID:27535106 Acute myeloid leukemia
NPM1:. MUT Responsive NPM1 oncogenic mutation RDientsmann Daunorubicin Chemotherapy Daunorubicin (Chemotherapy) Approved FDA guidelines NPM1 AML PMID:22417203 Acute myeloid leukemia
NRAS:Q61. MUT Resistant NRAS (Q61) RDientsmann [] [BRAF inhibitor] BRAF inhibitors Early trials NRAS CM PMID:23569304;PMID:24265153 Cutaneous melanoma
NRAS:. MUT Responsive NRAS oncogenic mutation DTamborero;CRubio-Perez;RDientsmann [] [CDK4/6 inhibitor;MEK inhibitor] CDK4/6 inhibitor + MEK inhibitors Approved Early trials NRAS CM PMID:26658964;NCT01781572;NCT02065063;NCT02022982;ASCO 2014 (abstr 9009) Indirect Cutaneous melanoma
NRAS:G12C MUT Responsive NRAS (G12C) RDientsmann [] [ERK inhibitor] ERK inhibitors Pre-clinical NRAS CANCER PMID:23614898 chr1:g.115258748C>A c.34G>T NRAS:G12C CSQN=Missense;reference_codon=GGT;candidate_codons=TGT,TGC;candidate_mnv_variants=chr1:g.115258746_115258748delACCinsGCA;aliases=ENSP00000358548;source=Ensembl inside_[cds_in_exon_2] - ENST00000369535 Any cancer type
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann [] [ERK inhibitor] ERK inhibitors Case report NRAS CM ASCO 2017 (abstr 2508) Cutaneous melanoma
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical NRAS CM PMID:23538902 Cutaneous melanoma
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann [] [MEK inhibitor +/- PI3K pathway inhibitor] MEK inhibitor +/- PI3K pathway inhibitors Pre-clinical NRAS COREAD PMID:23274911;PMID:22392911 Colorectal adenocarcinoma
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical NRAS AML;LUAD;ALL PMID:22507781;PMID:23515407;PMID:18701506 Acute myeloid leukemia;Lung adenocarcinoma;Acute lymphoblastic leukemia
NRAS:Q61. MUT Responsive NRAS (Q61) RDientsmann [] [MEK inhibitor] MEK inhibitors Late trials NRAS CM PMID:23414587,ASCO 2016 (abstr 9500) Cutaneous melanoma
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann [] [Pan-RAF inhibitor] Pan-RAF inhibitors Case report NRAS CM ESMO 2015 (abstract 300);AACR 2017 (abstr CT002) Cutaneous melanoma
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical NRAS MYMA PMID:22985491 Myeloma
NRAS:. MUT Resistant NRAS oncogenic mutation RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Approved NCCN guidelines NRAS COREAD PMID:24024839;PMID:20619739;PMID:23325582 Colorectal adenocarcinoma
NRAS:. MUT Resistant NRAS oncogenic mutation RDientsmann Panitumumab EGFR mAb inhibitor Panitumumab (EGFR mAb inhibitor) Approved NCCN guidelines NRAS COREAD PMID:24024839;PMID:20619739;PMID:23325582 Colorectal adenocarcinoma
NRAS:. MUT Responsive NRAS oncogenic mutation RDientsmann Sorafenib;MEK inhibitor Pan-TK inhibitor;MEK inhibitor Sorafenib + MEK inhibitor (Pan-TK inhibitor + MEK inhibitor) Early Trials,Case Report NRAS HC PMID:25294897 Hepatic carcinoma
NRAS:. MUT Resistant NRAS oncogenic mutation DTamborero Vemurafenib BRAF inhibitor Vemurafenib (BRAF inhibitor) Pre-clinical NRAS CM PMID:20179705 Cutaneous melanoma
NTRK1:G595R,G667C MUT Resistant NTRK1 (G595R,G667C) RDientsmann [Entrectinib] [Pan-TK inhibitor] Pan-TK inhibitors (Entrectinib,etc) Case report NTRK1 COREAD PMID:26546295 chr1:g.156846342G>A c.1783G>A NTRK1:G595R CSQN=Missense;reference_codon=GGG;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr1:g.156846342G>C;candidate_mnv_variants=chr1:g.156846342_156846344delGGGinsAGA,chr1:g.156846342_156846344delGGGinsCGA,chr1:g.156846342_156846344delGGGinsCGC,chr1:g.156846342_156846344delGGGinsCGT;aliases=ENSP00000431418;source=Ensembl inside_[cds_in_exon_14] + ENST00000524377 Colorectal adenocarcinoma
NTRK1:G595R,G667C MUT Resistant NTRK1 (G595R,G667C) RDientsmann [Entrectinib] [Pan-TK inhibitor] Pan-TK inhibitors (Entrectinib,etc) Case report NTRK1 COREAD PMID:26546295 chr1:g.156849107G>T c.1999G>T NTRK1:G667C CSQN=Missense;reference_codon=GGT;candidate_codons=TGT,TGC;candidate_mnv_variants=chr1:g.156849107_156849109delGGTinsTGC;aliases=ENSP00000431418;source=Ensembl inside_[cds_in_exon_15] + ENST00000524377 Colorectal adenocarcinoma
PALB2:. MUT Responsive PALB2 oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Early trials PALB2 PRAD AACR 2015 (abstr CT322);PMID:26510020 Prostate adenocarcinoma
PALB2:. MUT Responsive PALB2 oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Pre-clinical PALB2 PA PMID:25263539;NCT01585805 Pancreas
PALB2:. MUT Responsive PALB2 oncogenic mutation RDientsmann Mytomycin C Chemotherapy Mytomycin C (Chemotherapy) Case report PALB2 PA PMID:21135251 Pancreas
PALB2:. MUT Responsive PALB2 oncogenic mutation RDientsmann Platinum Agent Chemotherapy Platinum Agent (Chemotherapy) Case report PALB2 PA PMID:25719666 Pancreas
PBRM1:. MUT Responsive PBRM1 oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Pre-clinical PBRM1 CANCER PMID:26552009 Any cancer type
PDGFRA:D842V MUT Responsive PDGFRA (D842V) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical PDGFRA GIST PMID:18794084 chr4:g.55152093A>T c.2525A>T PDGFRA:D842V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55152093_55152094delACinsTA,chr4:g.55152093_55152094delACinsTG,chr4:g.55152093_55152094delACinsTT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Gastrointestinal stromal
PDGFRA:D842V MUT Responsive PDGFRA (D842V) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Early trials PDGFRA GIST ASCO 2016 (abstr 11010) chr4:g.55152093A>T c.2525A>T PDGFRA:D842V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55152093_55152094delACinsTA,chr4:g.55152093_55152094delACinsTG,chr4:g.55152093_55152094delACinsTT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Gastrointestinal stromal
PDGFRA:V658A,P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (V658A,P577S,R841K,H845Y,G853D) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55144144T>C c.1973T>C PDGFRA:V658A CSQN=Missense;reference_codon=GTA;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr4:g.55144144_55144145delTAinsCC,chr4:g.55144144_55144145delTAinsCG,chr4:g.55144144_55144145delTAinsCT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_14] + ENST00000257290 Cutaneous melanoma
PDGFRA:V658A,P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (V658A,P577S,R841K,H845Y,G853D) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55141083C>T c.1729C>T PDGFRA:P577S CSQN=Missense;reference_codon=CCG;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr4:g.55141083_55141085delCCGinsTCT,chr4:g.55141083_55141085delCCGinsTCC,chr4:g.55141083_55141085delCCGinsTCA,chr4:g.55141083_55141085delCCGinsAGC,chr4:g.55141083_55141085delCCGinsAGT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_12] + ENST00000257290 Cutaneous melanoma
PDGFRA:V658A,P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (V658A,P577S,R841K,H845Y,G853D) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55152090G>A c.2522G>A PDGFRA:R841K CSQN=Missense;reference_codon=AGA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr4:g.55152090_55152091delGAinsAG;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Cutaneous melanoma
PDGFRA:V658A,P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (V658A,P577S,R841K,H845Y,G853D) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55152101C>T c.2533C>T PDGFRA:H845Y CSQN=Missense;reference_codon=CAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55152101_55152103delCATinsTAC;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Cutaneous melanoma
PDGFRA:V658A,P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (V658A,P577S,R841K,H845Y,G853D) RDientsmann Crenolanib FLT3 inhibitor Crenolanib (FLT3 inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55152126G>A c.2558G>A PDGFRA:G853D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr4:g.55152126_55152127delGCinsAT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Cutaneous melanoma
PDGFRA::wildtype:. MUT Responsive PDGFRA wildtype RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical PDGFRA GIST PMID:16397263 Gastrointestinal stromal
PDGFRA:D842V MUT Responsive PDGFRA (D842V) RDientsmann Dasatinib BCR-ABL inhibitor 2nd gen Dasatinib (BCR-ABL inhibitor 2nd gen) Pre-clinical PDGFRA GIST PMID:18794084 chr4:g.55152093A>T c.2525A>T PDGFRA:D842V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55152093_55152094delACinsTA,chr4:g.55152093_55152094delACinsTG,chr4:g.55152093_55152094delACinsTT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Gastrointestinal stromal
PDGFRA::consequence::inframe_deletion:I843. MUT Responsive PDGFRA inframe deletion (I843) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved NCCN guidelines PDGFRA GIST NCCN guidelines Gastrointestinal stromal
PDGFRA::wildtype:. MUT Resistant PDGFRA wildtype RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Late trials PDGFRA GIST PMID:14645423;PMID:18955458 Gastrointestinal stromal
PDGFRA:552-596,631-668,814-854 MUT Responsive PDGFRA (552-596,631-668,814-854) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Approved NCCN guidelines PDGFRA GIST NCCN guidelines Gastrointestinal stromal
PDGFRA:D842V MUT Resistant PDGFRA (D842V) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Late trials,Pre-clinical PDGFRA GIST PMID:22718859;PMID:16638875 chr4:g.55152093A>T c.2525A>T PDGFRA:D842V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55152093_55152094delACinsTA,chr4:g.55152093_55152094delACinsTG,chr4:g.55152093_55152094delACinsTT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Gastrointestinal stromal
PDGFRA:P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (P577S,R841K,H845Y,G853D) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55141083C>T c.1729C>T PDGFRA:P577S CSQN=Missense;reference_codon=CCG;candidate_codons=AGC,AGT,TCT,TCG,TCC,TCA;candidate_mnv_variants=chr4:g.55141083_55141085delCCGinsTCT,chr4:g.55141083_55141085delCCGinsTCC,chr4:g.55141083_55141085delCCGinsTCA,chr4:g.55141083_55141085delCCGinsAGC,chr4:g.55141083_55141085delCCGinsAGT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_12] + ENST00000257290 Cutaneous melanoma
PDGFRA:P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (P577S,R841K,H845Y,G853D) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55152090G>A c.2522G>A PDGFRA:R841K CSQN=Missense;reference_codon=AGA;candidate_codons=AAG,AAA;candidate_mnv_variants=chr4:g.55152090_55152091delGAinsAG;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Cutaneous melanoma
PDGFRA:P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (P577S,R841K,H845Y,G853D) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55152101C>T c.2533C>T PDGFRA:H845Y CSQN=Missense;reference_codon=CAT;candidate_codons=TAT,TAC;candidate_mnv_variants=chr4:g.55152101_55152103delCATinsTAC;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Cutaneous melanoma
PDGFRA:P577S,R841K,H845Y,G853D MUT Responsive PDGFRA (P577S,R841K,H845Y,G853D) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Pre-clinical PDGFRA CM PMID:24132921 chr4:g.55152126G>A c.2558G>A PDGFRA:G853D CSQN=Missense;reference_codon=GGC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr4:g.55152126_55152127delGCinsAT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Cutaneous melanoma
PDGFRA:T674I MUT Resistant PDGFRA (T674I) RDientsmann Imatinib BCR-ABL inhibitor 1st gen&KIT inhibitor Imatinib (BCR-ABL inhibitor 1st gen&KIT inhibitor) Case report PDGFRA HES PMID:12660384 chr4:g.55144547C>T c.2021C>T PDGFRA:T674I CSQN=Missense;reference_codon=ACA;candidate_codons=ATC,ATA,ATT;candidate_mnv_variants=chr4:g.55144547_55144548delCAinsTC,chr4:g.55144547_55144548delCAinsTT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_15] + ENST00000257290 Hyper eosinophilic advanced snydrome
PDGFRA:552-596,631-668,814-854 MUT Responsive PDGFRA (552-596,631-668,814-854) RDientsmann Regorafenib Pan-kinase inhibitor Regorafenib (Pan-kinase inhibitor) Approved NCCN guidelines PDGFRA GIST NCCN guidelines Gastrointestinal stromal
PDGFRA::wildtype:. MUT Responsive PDGFRA wildtype RDientsmann Sorafenib Pan-TK inhibitor Sorafenib (Pan-TK inhibitor) Early trials PDGFRA GIST ASCO 2011 (abstr 10009) Gastrointestinal stromal
PDGFRA::wildtype:. MUT Responsive PDGFRA wildtype RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Late trials PDGFRA GIST PMID:18955458 Gastrointestinal stromal
PDGFRA:552-596,631-668,814-854 MUT Responsive PDGFRA (552-596,631-668,814-854) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Approved NCCN guidelines PDGFRA GIST NCCN guidelines Gastrointestinal stromal
PDGFRA:D842V MUT Resistant PDGFRA (D842V) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Late trials,Pre-clinical PDGFRA GIST PMID:22718859;PMID:16638875 chr4:g.55152093A>T c.2525A>T PDGFRA:D842V CSQN=Missense;reference_codon=GAC;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr4:g.55152093_55152094delACinsTA,chr4:g.55152093_55152094delACinsTG,chr4:g.55152093_55152094delACinsTT;aliases=ENSP00000257290;source=Ensembl inside_[cds_in_exon_18] + ENST00000257290 Gastrointestinal stromal
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [AKT inhibitor] AKT inhibitors Early trials PIK3CA BRCA ASCO 2015 (abstr 2500) Breast adenocarcinoma
PIK3CA:E545* MUT Resistant PIK3CA (E545*) DTamborero [] [BRAF inhibitor] BRAF inhibitors Case report PIK3CA CM PMC3936420 chr3:g.178936091G>T c.1633G>T PIK3CA:E545* CSQN=Nonsense;reference_codon=GAG;candidate_codons=TAA,TAG,TGA;candidate_mnv_variants=chr3:g.178936091_178936093delGAGinsTAA,chr3:g.178936091_178936093delGAGinsTGA;aliases=ENSP00000263967;source=Ensembl inside_[cds_in_exon_10] + ENST00000263967 Cutaneous melanoma
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PI3K pathway inhibitor (alone or in combination)] PI3K pathway inhibitor (alone or in combination)s Pre-clinical PIK3CA L;COREAD PMID:23136191;PMID:23475782;PMID:22392911 Lung;Colorectal adenocarcinoma
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Case report PIK3CA BLCA;HNC;L ASCO 2015 (abstr 2516);ASCO 2015 (abstr 6049);ESMO 2013 (abstr P017) Bladder;Head an neck;Lung
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Early trials PIK3CA BRCA;OV;CESC;ED PMID:22271473;PMID:27672108;AACR 2013 (abstr LB-66);PMID:25231405;ASCO 2013 (abstr 2531);ASCO 2014 (abstr 5513) Breast adenocarcinoma;Ovary;Cervix squamous cell;Endometrium
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Case report PIK3CA HNSC PMID:26787751;PMID:26763254 Head an neck squamous
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Pre-clinical PIK3CA G;THCA PMID:19671762;PMID:21289267 Glioma;Thyroid carcinoma
PIK3CA:. MUT No Responsive PIK3CA oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Early trials PIK3CA L ASCO 2017 (abstr 9054) Lung
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PIK3CA inhibitor] PIK3CA inhibitors Early trials PIK3CA BRCA PMID:28331003 Breast adenocarcinoma
PIK3CA:. MUT Responsive PIK3CA oncogenic mutation RDientsmann [] [PIK3CA inhibitor] PIK3CA inhibitors Case report PIK3CA ST ASCO 2015 (abstr 2501) Stomach
PIK3CA:. MUT Resistant PIK3CA oncogenic mutation RDientsmann Cetuximab EGFR mAb inhibitor Cetuximab (EGFR mAb inhibitor) Late trials PIK3CA COREAD PMID:19223544;PMID:20619739 Colorectal adenocarcinoma
PIK3CB:. MUT Responsive PIK3CB oncogenic mutation RDientsmann [] [AKT inhibitor] AKT inhibitors Pre-clinical PIK3CB HNSC PMID:23619167 Head an neck squamous
PIK3CB:D1067Y MUT Responsive PIK3CB (D1067Y) RDientsmann [] [AKT inhibitor] AKT inhibitors Pre-clinical PIK3CB BRCA PMID:26759240 chr3:g.138374245C>A c.3199G>T PIK3CB:D1067Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr3:g.138374243_138374245delGTCinsATA;aliases=ENSP00000418143;source=Ensembl inside_[cds_in_exon_23] - ENST00000477593 Breast adenocarcinoma
PIK3CB:. MUT Responsive PIK3CB oncogenic mutation RDientsmann [] [MTORC1/2 inhibitor] MTORC1/2 inhibitors Pre-clinical PIK3CB HNSC PMID:23619167 Head an neck squamous
PIK3CB:D1067Y MUT Responsive PIK3CB (D1067Y) RDientsmann [] [MTORC1/2 inhibitor] MTORC1/2 inhibitors Pre-clinical PIK3CB BRCA PMID:26759240 chr3:g.138374245C>A c.3199G>T PIK3CB:D1067Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr3:g.138374243_138374245delGTCinsATA;aliases=ENSP00000418143;source=Ensembl inside_[cds_in_exon_23] - ENST00000477593 Breast adenocarcinoma
PIK3CB:. MUT Responsive PIK3CB oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Pre-clinical PIK3CB HNSC PMID:23619167 Head an neck squamous
PIK3CB:D1067Y MUT Resistant PIK3CB (D1067Y) RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Case report PIK3CB BRCA PMID:26759240 chr3:g.138374245C>A c.3199G>T PIK3CB:D1067Y CSQN=Missense;reference_codon=GAC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr3:g.138374243_138374245delGTCinsATA;aliases=ENSP00000418143;source=Ensembl inside_[cds_in_exon_23] - ENST00000477593 Breast adenocarcinoma
PIK3R1:. MUT Responsive PIK3R1 oncogenic mutation RDientsmann [] [AKT inhibitor] AKT inhibitors Pre-clinical PIK3R1 G PMID:23166678 Glioma
PIK3R1:. MUT Responsive PIK3R1 oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Case report PIK3R1 ED ASCO 2015 (abstr 11075) Endometrium
PIK3R2:A171V,N561D MUT Responsive PIK3R2 (A171V,N561D) RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical PIK3R2 ED PMID:21984976;PMID:19962665 chr19:g.18271909C>T c.512C>T PIK3R2:A171V CSQN=Missense;reference_codon=GCT;candidate_codons=GTA,GTC,GTG,GTT;candidate_mnv_variants=chr19:g.18271909_18271910delCTinsTA,chr19:g.18271909_18271910delCTinsTC,chr19:g.18271909_18271910delCTinsTG;aliases=ENSP00000222254;source=Ensembl inside_[cds_in_exon_5] + ENST00000222254 Endometrium
PIK3R2:A171V,N561D MUT Responsive PIK3R2 (A171V,N561D) RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical PIK3R2 ED PMID:21984976;PMID:19962665 chr19:g.18278061A>G c.1681A>G PIK3R2:N561D CSQN=Missense;reference_codon=AAC;candidate_codons=GAC,GAT;candidate_mnv_variants=chr19:g.18278061_18278063delAACinsGAT;aliases=ENSP00000222254;source=Ensembl inside_[cds_in_exon_13] + ENST00000222254 Endometrium
PLCG2:R665W,L845F MUT Resistant PLCG2 (R665W,L845F) RDientsmann Ibrutinib BTK inhibitor Ibrutinib (BTK inhibitor) Approved Early trials PLCG2 CLL PMID:24869598 chr16:g.81946260C>T c.1993C>T PLCG2:R665W CSQN=Missense;reference_codon=CGG;candidate_codons=TGG;aliases=ENSP00000352336;source=Ensembl inside_[cds_in_exon_19] + ENST00000359376 Chronic lymphocytic leukemia
PLCG2:R665W,L845F MUT Resistant PLCG2 (R665W,L845F) RDientsmann Ibrutinib BTK inhibitor Ibrutinib (BTK inhibitor) Approved Early trials PLCG2 CLL PMID:24869598 chr16:g.81962183A>T c.2535A>T PLCG2:L845F CSQN=Missense;reference_codon=TTA;candidate_codons=TTT,TTC;candidate_snv_variants=chr16:g.81962183A>C;aliases=ENSP00000352336;source=Ensembl inside_[cds_in_exon_24] + ENST00000359376 Chronic lymphocytic leukemia
POLE:268-471 MUT Responsive POLE (268-471) RDientsmann [] [PD1 Ab inhibitor] PD1 Ab inhibitors Case report POLE G;ED PMID:27001570;PMID:27683556;PMID:27159395 Glioma;Endometrium
POLE:. MUT Responsive POLE oncogenic mutation RDientsmann [] [PD1 Ab inhibitor] PD1 Ab inhibitors Case report POLE COREAD PMID:28188185 Colorectal adenocarcinoma
PTCH1:. MUT Responsive PTCH1 oncogenic mutation DTamborero;RDientsmann [] [SMO inhibitor] SMO inhibitors Approved Pre-clinical PTCH1 MB PMID:24651015 Medulloblastoma
PTCH1:. MUT Responsive PTCH1 oncogenic mutation RDientsmann Foretinib MET inhibitor Foretinib (MET inhibitor) Pre-clinical PTCH1 MB PMID:25391241 Medulloblastoma
PTCH1:. MUT Responsive PTCH1 oncogenic mutation RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Approved FDA guidelines PTCH1 BCC;MB PMID:19726763;PMID:19726761 Basal cell carcinoma;Medulloblastoma
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [AKT inhibitor] AKT inhibitors Case report PTEN PA PMID:22025163 Pancreas
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [ATM inhibitor] ATM inhibitors Pre-clinical PTEN BRCA PMID:27397505 Breast adenocarcinoma
PTEN:. MUT Resistant PTEN oncogenic mutation RDientsmann [] [EGFR mAb inhibitor] EGFR mAb inhibitors Late trials PTEN COREAD PMID:21163703;PMID:19398573 Colorectal adenocarcinoma
PTEN:. MUT No Responsive PTEN oncogenic mutation RDientsmann [] [MTOR inhibitor] MTOR inhibitors Early trials PTEN ED PMID:21788564;PMID:23238879 Endometrium
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Case report PTEN ED PMID:21468130;PMID:20944090 Endometrium
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [PD1 Ab inhibitor] PD1 Ab inhibitors Early trials PTEN CM PMID:26645196 Cutaneous melanoma
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;AR antagonist] PI3K pathway inhibitor + AR antagonists Pre-clinical PTEN PRAD PMID:21575859 Prostate adenocarcinoma
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [PI3K pathway inhibitor;MEK inhibitor] PI3K pathway inhibitor + MEK inhibitors Pre-clinical PTEN OV PMID:21632463 Ovary
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [PI3K pathway inhibitor] PI3K pathway inhibitors Pre-clinical PTEN TH;G;L;OV;BRCA;CANCER;ED PMID:21289267;PMID:21325073;PMID:21191045;PMID:17804702;PMID:23136191;PMID:21632463;PMID:21673091;PMID:23287563;PMID:21998291;PMID:22662154;PMID:23085766;PMID:22932669 Thyroid;Glioma;Lung;Ovary;Breast adenocarcinoma;Any cancer type;Endometrium
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann [] [PIK3CB inhibitor] PIK3CB inhibitors Case report PTEN PRAD ASCO 2014 (abstr 2514) Prostate adenocarcinoma
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Early trials PTEN PRAD PMID:23582881 Prostate adenocarcinoma
PTEN:. MUT Responsive PTEN oncogenic mutation RDientsmann Sirolimus MTOR inhibitor Sirolimus (MTOR inhibitor) Early trials PTEN CANCER ASCO 2013 (abstr 2532) Any cancer type
PTPRD:. MUT Responsive PTPRD oncogenic mutation RDientsmann [] [IGF1R inhibitor] IGF1R inhibitors Case report PTPRD S PMID:23800680 Sarcoma
RAD51C:. MUT Responsive RAD51C oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Early trials RAD51C OV ASCO 2015 (abstr 5508) Ovary
RAD51C:. MUT Responsive RAD51C oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Early trials RAD51C OV ASCO 2015 (abstr 5508) Ovary
RB1:. MUT Responsive RB1 oncogenic mutation RDientsmann [] [HDAC inhibitor] HDAC inhibitors Pre-clinical RB1 RB PMID:18483379 Retinoblastoma
RB1:. MUT Responsive RB1 oncogenic mutation RDientsmann [] [MDM2/MDMX inhibitor] MDM2/MDMX inhibitors Pre-clinical RB1 RB PMID:17080083;PMID:21515735 Retinoblastoma
RB1:. MUT Responsive RB1 oncogenic mutation ARodriguez-Vida;RDientsmann Cisplatin Chemotherapy Cisplatin (Chemotherapy) Approved Early trials RB1 BLCA BLCA PMID:26238431 Indirect Bladder
RET:C634W,M918T MUT Responsive RET (C634W,M918T) RDientsmann [] [RET inhibitor] RET inhibitors Pre-clinical RET TH PMID:23056499 chr10:g.43609950C>G c.1902C>G RET:C634W CSQN=Missense;reference_codon=TGC;candidate_codons=TGG;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_11] + ENST00000355710 Thyroid
RET:C634W,M918T MUT Responsive RET (C634W,M918T) RDientsmann [] [RET inhibitor] RET inhibitors Pre-clinical RET TH PMID:23056499 chr10:g.43617416T>C c.2753T>C RET:M918T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr10:g.43617416_43617417delTGinsCA,chr10:g.43617416_43617417delTGinsCT,chr10:g.43617416_43617417delTGinsCC;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_16] + ENST00000355710 Thyroid
RET:C634W,M918T MUT Responsive RET (C634W,M918T) RDientsmann Cabozantinib Pan-kinase inhibitor Cabozantinib (Pan-kinase inhibitor) Pre-clinical RET TH PMID:21470995 chr10:g.43609950C>G c.1902C>G RET:C634W CSQN=Missense;reference_codon=TGC;candidate_codons=TGG;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_11] + ENST00000355710 Thyroid
RET:C634W,M918T MUT Responsive RET (C634W,M918T) RDientsmann Cabozantinib Pan-kinase inhibitor Cabozantinib (Pan-kinase inhibitor) Pre-clinical RET TH PMID:21470995 chr10:g.43617416T>C c.2753T>C RET:M918T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr10:g.43617416_43617417delTGinsCA,chr10:g.43617416_43617417delTGinsCT,chr10:g.43617416_43617417delTGinsCC;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_16] + ENST00000355710 Thyroid
RET:I788N MUT Resistant RET (I788N) RDientsmann Ponatinib BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor Ponatinib (BCR-ABL inhibitor 3rd gen&Pan-TK inhibitor) Pre-clinical RET LUAD PMID:28615362 chr10:g.43613899T>A c.2363T>A RET:I788N CSQN=Missense;reference_codon=ATC;candidate_codons=AAC,AAT;candidate_mnv_variants=chr10:g.43613899_43613900delTCinsAT;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_13] + ENST00000355710 Lung adenocarcinoma
RET:C634W,M918T MUT Responsive RET (C634W,M918T) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Pre-clinical RET TH PMID:21470995 chr10:g.43609950C>G c.1902C>G RET:C634W CSQN=Missense;reference_codon=TGC;candidate_codons=TGG;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_11] + ENST00000355710 Thyroid
RET:C634W,M918T MUT Responsive RET (C634W,M918T) RDientsmann Sunitinib Pan-TK inhibitor Sunitinib (Pan-TK inhibitor) Pre-clinical RET TH PMID:21470995 chr10:g.43617416T>C c.2753T>C RET:M918T CSQN=Missense;reference_codon=ATG;candidate_codons=ACA,ACG,ACT,ACC;candidate_mnv_variants=chr10:g.43617416_43617417delTGinsCA,chr10:g.43617416_43617417delTGinsCT,chr10:g.43617416_43617417delTGinsCC;aliases=ENSP00000347942;source=Ensembl inside_[cds_in_exon_16] + ENST00000355710 Thyroid
RET:.618.,.620.,.634.,.768.,.791.,.891.,.918.,C634W,M918T MUT Responsive RET (618,620,634,768,791,891,918,C634W,M918T) RDientsmann Vandetanib Pan-TK inhibitor Vandetanib (Pan-TK inhibitor) Approved FDA guidelines RET THCA PMID:20065189;PMID:22025146 Thyroid carcinoma
RNF43:. MUT Responsive RNF43 oncogenic mutation RDientsmann [] [Porcupine inhibitor] Porcupine inhibitors Case report RNF43 COREAD ENA 2015 (abstr C45) Colorectal adenocarcinoma
ROS1:G2032R MUT Responsive ROS1 (G2032R) RDientsmann Cabozantinib Pan-kinase inhibitor Cabozantinib (Pan-kinase inhibitor) Pre-clinical ROS1 LUAD PMID:25351743 chr6:g.117638347C>T c.6094G>A ROS1:G2032R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr6:g.117638347C>G;candidate_mnv_variants=chr6:g.117638345_117638347delTCCinsCCT,chr6:g.117638345_117638347delTCCinsGCG,chr6:g.117638345_117638347delTCCinsCCG,chr6:g.117638345_117638347delTCCinsACG;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_38] - ENST00000368508 Lung adenocarcinoma
ROS1:S1986Y,S1986F MUT Resistant ROS1 (S1986Y,S1986F) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) Case report ROS1 LUAD PMID:27401242 chr6:g.117639399G>T c.5957C>A ROS1:S1986Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr6:g.117639398_117639399delGGinsAT;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_37] - ENST00000368508 Lung adenocarcinoma
ROS1:S1986Y,S1986F MUT Resistant ROS1 (S1986Y,S1986F) RDientsmann Ceritinib ALK inhibitor Ceritinib (ALK inhibitor) Case report ROS1 LUAD PMID:27401242 chr6:g.117639399G>A c.5957C>T ROS1:S1986F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr6:g.117639398_117639399delGGinsAA;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_37] - ENST00000368508 Lung adenocarcinoma
ROS1:G2032R MUT Resistant ROS1 (G2032R) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Approved Case report ROS1 LUAD PMID:23724914;PMID:25688157 chr6:g.117638347C>T c.6094G>A ROS1:G2032R CSQN=Missense;reference_codon=GGA;candidate_codons=AGG,AGA,CGA,CGC,CGG,CGT;candidate_snv_variants=chr6:g.117638347C>G;candidate_mnv_variants=chr6:g.117638345_117638347delTCCinsCCT,chr6:g.117638345_117638347delTCCinsGCG,chr6:g.117638345_117638347delTCCinsCCG,chr6:g.117638345_117638347delTCCinsACG;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_38] - ENST00000368508 Lung adenocarcinoma
ROS1:S1986Y,S1986F MUT Resistant ROS1 (S1986Y,S1986F) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ROS1 LUAD PMID:27401242 chr6:g.117639399G>T c.5957C>A ROS1:S1986Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr6:g.117639398_117639399delGGinsAT;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_37] - ENST00000368508 Lung adenocarcinoma
ROS1:S1986Y,S1986F MUT Resistant ROS1 (S1986Y,S1986F) RDientsmann Crizotinib ALK inhibitor Crizotinib (ALK inhibitor) Case report ROS1 LUAD PMID:27401242 chr6:g.117639399G>A c.5957C>T ROS1:S1986F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr6:g.117639398_117639399delGGinsAA;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_37] - ENST00000368508 Lung adenocarcinoma
ROS1:S1986Y,S1986F MUT Responsive ROS1 (S1986Y,S1986F) RDientsmann Lorlatinib ALK&ROS1 inhibitor Lorlatinib (ALK&ROS1 inhibitor) Case report ROS1 LUAD PMID:27401242 chr6:g.117639399G>T c.5957C>A ROS1:S1986Y CSQN=Missense;reference_codon=TCC;candidate_codons=TAT,TAC;candidate_mnv_variants=chr6:g.117639398_117639399delGGinsAT;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_37] - ENST00000368508 Lung adenocarcinoma
ROS1:S1986Y,S1986F MUT Responsive ROS1 (S1986Y,S1986F) RDientsmann Lorlatinib ALK&ROS1 inhibitor Lorlatinib (ALK&ROS1 inhibitor) Case report ROS1 LUAD PMID:27401242 chr6:g.117639399G>A c.5957C>T ROS1:S1986F CSQN=Missense;reference_codon=TCC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr6:g.117639398_117639399delGGinsAA;aliases=ENSP00000357494;source=Ensembl inside_[cds_in_exon_37] - ENST00000368508 Lung adenocarcinoma
SERPINB3:. MUT Responsive SERPINB3 oncogenic mutation RDientsmann [] [CTLA4 inhibitor] CTLA4 inhibitors Early trials SERPINB3 CM PMID:27668655 Cutaneous melanoma
SETD2:. MUT Responsive SETD2 oncogenic mutation RDientsmann [] [WEE1 inhibitor] WEE1 inhibitors Pre-clinical SETD2 CANCER ENA 2014 (abstr 211) Any cancer type
SF3B1:K700E,K666N MUT Responsive SF3B1 (K700E,K666N) RDientsmann [] [Spliceosome inhibitor] Spliceosome inhibitors Pre-clinical SF3B1 CANCER ENA 2014 (abstr 456);ENA 2014 (abstr 575);PMID:25424858 chr2:g.198266834T>C c.2098A>G SF3B1:K700E CSQN=Missense;reference_codon=AAA;candidate_codons=GAG,GAA;candidate_mnv_variants=chr2:g.198266832_198266834delTTTinsCTC;aliases=ENSP00000335321;source=Ensembl inside_[cds_in_exon_15] - ENST00000335508 Any cancer type
SF3B1:K700E,K666N MUT Responsive SF3B1 (K700E,K666N) RDientsmann [] [Spliceosome inhibitor] Spliceosome inhibitors Pre-clinical SF3B1 CANCER ENA 2014 (abstr 456);ENA 2014 (abstr 575);PMID:25424858 chr2:g.198267359C>G c.1998G>C SF3B1:K666N CSQN=Missense;reference_codon=AAG;candidate_codons=AAC,AAT;candidate_snv_variants=chr2:g.198267359C>A;aliases=ENSP00000335321;source=Ensembl inside_[cds_in_exon_14] - ENST00000335508 Any cancer type
SH2B3:. MUT Responsive SH2B3 oncogenic mutation RDientsmann [] [JAK inhibitor] JAK inhibitors Pre-clinical SH2B3 MDPS PMID:20404132 Myelodisplasic proliferative syndrome
SLC29A1:. MUT Resistant SLC29A1 oncogenic mutation ARodriguez-Vida Gemcitabine Chemotherapy Gemcitabine (Chemotherapy) Pre-clinical SLC29A1 BLCA BLCA PMID:21166756 Bladder
SMARCA1:. MUT Responsive SMARCA1 oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Pre-clinical SMARCA1 CANCER PMID:26552009 Any cancer type
SMARCA4:. MUT Responsive SMARCA4 oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Case report SMARCA4 OV ESMO 2015 (abstract 302) Ovary
SMARCB1:. MUT Responsive SMARCB1 oncogenic mutation RDientsmann [] [EZH2 inhibitor] EZH2 inhibitors Case report SMARCB1 MRT ENA 2014 (abstr 6LBA);ESMO 2015 (abstract 302) Malignant rhabdoid tumor
SMARCB1:. MUT Responsive SMARCB1 oncogenic mutation RDientsmann [] [HDAC inhibitor] HDAC inhibitors Pre-clinical SMARCB1 MRT PMID:26920892 Malignant rhabdoid tumor
SMO:D473H MUT Resistant SMO (D473H) RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO MB PMID:19726788;PMID:25759019 chr7:g.128849189G>C c.1417G>C SMO:D473H CSQN=Missense;reference_codon=GAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr7:g.128849189_128849191delGACinsCAT;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_8] + ENST00000249373 Medulloblastoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128849189G>C c.1417G>C SMO:D473H CSQN=Missense;reference_codon=GAC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr7:g.128849189_128849191delGACinsCAT;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_8] + ENST00000249373 Basal cell carcinoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128849190A>G c.1418A>G SMO:D473G CSQN=Missense;reference_codon=GAC;candidate_codons=GGT,GGG,GGA,GGC;candidate_mnv_variants=chr7:g.128849190_128849191delACinsGT,chr7:g.128849190_128849191delACinsGG,chr7:g.128849190_128849191delACinsGA;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_8] + ENST00000249373 Basal cell carcinoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128850341G>T c.1604G>T SMO:W535L CSQN=Missense;reference_codon=TGG;candidate_codons=CTT,CTG,CTA,CTC,TTA,TTG;candidate_mnv_variants=chr7:g.128850340_128850341delTGinsCT,chr7:g.128850341_128850342delGGinsTA,chr7:g.128850340_128850342delTGGinsCTT,chr7:g.128850340_128850342delTGGinsCTA,chr7:g.128850340_128850342delTGGinsCTC;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_9] + ENST00000249373 Basal cell carcinoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128846398C>T c.1234C>T SMO:L412F CSQN=Missense;reference_codon=CTC;candidate_codons=TTT,TTC;candidate_mnv_variants=chr7:g.128846398_128846400delCTCinsTTT;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_6] + ENST00000249373 Basal cell carcinoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128845546G>T c.843G>T SMO:W281C CSQN=Missense;reference_codon=TGG;candidate_codons=TGT,TGC;candidate_snv_variants=chr7:g.128845546G>C;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_4] + ENST00000249373 Basal cell carcinoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128849201C>G c.1429C>G SMO:Q477E CSQN=Missense;reference_codon=CAG;candidate_codons=GAG,GAA;candidate_mnv_variants=chr7:g.128849201_128849203delCAGinsGAA;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_8] + ENST00000249373 Basal cell carcinoma
SMO:D473H,D473G,W535L,L412F,W281C,Q477E,G497W MUT Resistant SMO (D473H,D473G,W535L,L412F,W281C,Q477E,G497W) DTamborero;RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO BCC PMID:25759020;PMID:25306392 chr7:g.128850226G>T c.1489G>T SMO:G497W CSQN=Missense;reference_codon=GGG;candidate_codons=TGG;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_9] + ENST00000249373 Basal cell carcinoma
SMO:P641A MUT Responsive SMO (P641A) RDientsmann Vismodegib SHH inhibitor Vismodegib (SHH inhibitor) Case report SMO L ASCO 2017 (abstr 9062) chr7:g.128851596C>G c.1921C>G SMO:P641A CSQN=Missense;reference_codon=CCT;candidate_codons=GCA,GCC,GCG,GCT;candidate_mnv_variants=chr7:g.128851596_128851598delCCTinsGCA,chr7:g.128851596_128851598delCCTinsGCC,chr7:g.128851596_128851598delCCTinsGCG;aliases=ENSP00000249373;source=Ensembl inside_[cds_in_exon_11] + ENST00000249373 Lung
SRSF2:. MUT Responsive SRSF2 oncogenic mutation RDientsmann [] [Spliceosome inhibitor] Spliceosome inhibitors Pre-clinical SRSF2 AML PMID:27135740 Acute myeloid leukemia
STAG2:. MUT Responsive STAG2 oncogenic mutation RDientsmann [] [PARP inhibitor] PARP inhibitors Pre-clinical STAG2 G PMID:24356817 Glioma
STK11:. MUT Resistant STK11 oncogenic mutation RDientsmann [] [BET inhibitor] BET inhibitors Pre-clinical STK11 L PMID:23129625;PMID:24045185 Lung
STK11:. MUT Responsive STK11 oncogenic mutation RDientsmann [] [MEK inhibitor] MEK inhibitors Pre-clinical STK11 LUAD PMID:19165201 Lung adenocarcinoma
STK11:. MUT Responsive STK11 oncogenic mutation RDientsmann [] [MTOR inhibitor] MTOR inhibitors Pre-clinical STK11 CANCER PMID:19541609 Any cancer type
STK11:. MUT Responsive STK11 oncogenic mutation RDientsmann [] [SRC inhibitor;PI3K/MEK inhibitor] SRC inhibitor + PI3K/MEK inhibitors Pre-clinical STK11 LUAD PMID:20541700 Lung adenocarcinoma
STK11:D194E MUT Responsive STK11 (D194E) RDientsmann Everolimus MTOR inhibitor Everolimus (MTOR inhibitor) Case report STK11 PA PMID:21189378 chr19:g.1220489C>G c.582C>G STK11:D194E CSQN=Missense;reference_codon=GAC;candidate_codons=GAG,GAA;candidate_snv_variants=chr19:g.1220489C>A;aliases=ENSP00000324856;source=Ensembl inside_[cds_in_exon_4] + ENST00000326873 Pancreas
STK11:. MUT Responsive STK11 oncogenic mutation RDientsmann Phenformin Anti-diabetic Phenformin (Anti-diabetic) Pre-clinical STK11 LUAD PMID:23352126 Lung adenocarcinoma
SUZ12:. MUT Responsive SUZ12 oncogenic mutation RDientsmann [] [BET inhibitor] BET inhibitors Pre-clinical SUZ12 CANCER PMID:25119042 Any cancer type
TERT::consequence::promoters_core:. MUT Responsive TERT promoters core CRubio-Perez Eribulin Macrocyclic analog Eribulin (Macrocyclic analog) Pre-clinical TERT GBM PMID:25375122;https://academic.oup.com/neuro-oncology/article-abstract/18/suppl_4/iv50/2222864/P08-41-Development-of-a-novel-TERT-targeting?cited-by=yes&legid=neuonc;18/suppl_4/iv50-b Glioblastoma multiforme
TP53::wildtype:. MUT Responsive TP53 wildtype RDientsmann [] [HDM2 inhibitor] HDM2 inhibitors Early trials TP53 AML AACR 2017 (abstr CT152) Acute myeloid leukemia
TP53:R248Q,R175H MUT Responsive TP53 (R248Q,R175H) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical TP53 CANCER PMID:26009011 chr17:g.7577538C>T c.743G>A TP53:R248Q CSQN=Missense;reference_codon=CGG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr17:g.7577537_7577538delCCinsTT;aliases=ENSP00000269305;source=Ensembl inside_[cds_in_exon_7] - ENST00000269305 Any cancer type
TP53:R248Q,R175H MUT Responsive TP53 (R248Q,R175H) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical TP53 CANCER PMID:26009011 chr17:g.7578406C>T c.524G>A TP53:R175H CSQN=Missense;reference_codon=CGC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr17:g.7578405_7578406delGCinsAT;aliases=ENSP00000269305;source=Ensembl inside_[cds_in_exon_5] - ENST00000269305 Any cancer type
TP53:R248Q,R175H MUT Responsive TP53 (R248Q,R175H) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical TP53 CANCER PMID:26009011 chr17:g.7577538C>T c.743G>A TP53:R248Q CSQN=Missense;reference_codon=CGG;candidate_codons=CAA,CAG;candidate_mnv_variants=chr17:g.7577537_7577538delCCinsTT;aliases=ENSP00000269305;source=Ensembl inside_[cds_in_exon_7] - ENST00000269305 Any cancer type
TP53:R248Q,R175H MUT Responsive TP53 (R248Q,R175H) RDientsmann [] [HSP90 inhibitor] HSP90 inhibitors Pre-clinical TP53 CANCER PMID:26009011 chr17:g.7578406C>T c.524G>A TP53:R175H CSQN=Missense;reference_codon=CGC;candidate_codons=CAT,CAC;candidate_mnv_variants=chr17:g.7578405_7578406delGCinsAT;aliases=ENSP00000269305;source=Ensembl inside_[cds_in_exon_5] - ENST00000269305 Any cancer type
TP53:. MUT Resistant TP53 oncogenic mutation RDientsmann [] [MDM2 inhibitor] MDM2 inhibitors Early trials TP53 LIP PMID:23084521;ASCO 2015 (abstr 10564) Liposarcoma
TP53:. MUT Responsive TP53 oncogenic mutation RDientsmann [] [WEE1 inhibitor] WEE1 inhibitors Pre-clinical TP53 HNC PMID:25125259 Head an neck
TP53:. MUT Resistant TP53 oncogenic mutation RDientsmann Abemaciclib CDK4/CDK6 inhibitor Abemaciclib (CDK4/CDK6 inhibitor) Early trials TP53 BRCA PMID:27217383 Breast adenocarcinoma
TP53:. MUT Responsive TP53 oncogenic mutation ECampo AZD6738 ATR inhibitor AZD6738 (ATR inhibitor) Clinical Trials Early trials TP53 BCL NCT01955668;https://ash.confex.com/ash/2014/webprogram/Paper71027.html Indirect B cell lymphoma
TP53:. MUT Resistant TP53 oncogenic mutation RDientsmann Cisplatin Chemotherapy Cisplatin (Chemotherapy) Early trials TP53 FGCT;MGCT PMID:27646943 Female germ cell tumor;Male germ cell tumor
TP53:. MUT Responsive TP53 oncogenic mutation RDientsmann Decitabine Chemotherapy Decitabine (Chemotherapy) Early trials TP53 AML;MDPS PMID:27959731 Acute myeloid leukemia;Myelodisplasic proliferative syndrome
TP53:. MUT Responsive TP53 oncogenic mutation RDientsmann Doxorubicin Anthracycline antitumor antibiotic Doxorubicin (Anthracycline antitumor antibiotic) Pre-clinical TP53 BLCA PMID:27397505 Bladder
TP53:. MUT Responsive TP53 oncogenic mutation RDientsmann Gemcitabine Chemotherapy Gemcitabine (Chemotherapy) Pre-clinical TP53 BLCA PMID:27397505 Bladder
TP53:. MUT Responsive TP53 oncogenic mutation RDientsmann Mitomycin C Chemotherapy Mitomycin C (Chemotherapy) Pre-clinical TP53 BLCA PMID:27397505 Bladder
TP53:. MUT Responsive TP53 oncogenic mutation KKarube;RDientsmann MK-1775 WEE1 inhibitor MK-1775 (WEE1 inhibitor) Clinical Trials Early trials TP53 OV NCT01357161;ASCO2015 (abstr 2507) Indirect Ovary