| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 861 |
Name | RUNX1 |
Synonymous | AML1|AML1-EVI-1|AMLCR1|CBFA2|EVI-1|PEBP2aB;runt-related transcription factor 1;RUNX1;runt-related transcription factor 1 |
Definition | AML1-EVI-1 fusion protein|CBF-alpha-2|PEA2-alpha B|PEBP2-alpha B|SL3-3 enhancer factor 1 alpha B subunit|SL3/AKV core-binding factor alpha B subunit|acute myeloid leukemia 1 protein|aml1 oncogene|core-binding factor subunit alpha-2|core-binding factor, ru |
Position | 21q22.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RUNX1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
RUNX1_E1_UTR_5; chr21; 36260101 |
SUB; UTR_5; G; G/C; SOMATIC | MB; VALID; WGS |
RUNX1_E9_UTR_3; chr21; 36163293 |
SUB; UTR_3; G; G/C; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
RUNX1_R166*; chr21; 36252866 |
SUB; NONSENSE; G; G/A; SOMATIC | T-ALL; VALID; WGS |
RUNX1_V124fs; chr21; 36252990 |
IFRAMESHIFT; -; -/TTGCTCAACA; SOMATIC | T-ALL; VALID; WGS |
RUNX1_V164A; chr21; 36252871 |
SUB; MISSENSE; A; A/G; SOMATIC | T-ALL; VALID; WGS |
RUNX1_P401S; chr21; 36164674 |
SUB; MISSENSE; G; G/A; SOMATIC | T-ALL; VALID; |
RUNX1_L327fs; chr21; 36164894 |
IFRAMESHIFT; -; -/CGTCCCTA; SOMATIC | T-ALL; VALID; |
RUNX1_T148fs; chr21; 36252918 |
IFRAMESHIFT; -; -/GA; SOMATIC | T-ALL; VALID; |
RUNX1_GinsA147; chr21; 36252923 |
IPROTEINI-; -/CCC; SOMATIC | T-ALL; VALID; |
RUNX1_S322*; chr21; 36171600 |
SUB; NONSENSE; G; G/C; SOMATIC | T-ALL; VALID; |
RUNX1_R204*; chr21; 36231774 |
SUB; NONSENSE; G; G/A; SOMATIC | T-ALL; VALID; |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.312_313delGC; p.H105fs*32; 21:35181048-35181049 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.352-1insTTTAG; p.?; 21:35174880-35174881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.497_498ins9; p.R166_S167insSNR; 21:35174734-35174735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.503_504ins9; p.G168_R169insRSG; 21:35174728-35174729 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.422C>T; p.S141L; 21:35174810-35174810 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.613+41delGTACACCCTCCAGGCTG; p.?; 21:35153584-35153600 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.613+41delGTACACCCTCCAGGCTG; p.?; 21:35153584-35153600 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.446_447insTACCGC; p.A149_A150insTA; 21:35174785-35174786 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.595G>A; p.G199R; 21:35153659-35153659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.347T>C; p.F116S; 21:35181014-35181014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.484A>G; p.R162G; 21:35174748-35174748 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.292delC; p.L98fs*24; 21:35181069-35181069 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.318G>T; p.W106C; 21:35181043-35181043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.508+1G>A; p.?; 21:35174723-35174723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?_?del?; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.552G>T; p.P184P; 21:35153702-35153702 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.384T>C; p.T128T; 21:35174848-35174848 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.205G>C; p.G69R; 21:35181156-35181156 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.291delC; p.L98fs*24; 21:35181070-35181070 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.205G>C; p.G69R; 21:35181156-35181156 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.419_420ins23; p.Y140fs*1; 21:35174812-35174813 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.611G>A; p.R204Q; 21:35153643-35153643 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.494_495insCGGGGG; p.G165_R166insGG; 21:35174737-35174738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.445_446ins22; p.A149fs*2; 21:35174786-35174787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.598C>T; p.P200S; 21:35153656-35153656 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?_?insGT; p.V132fs*2; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.496C>G; p.R166G; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.253C>A; p.H85N; 21:35181108-35181108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm |
c.119_173del55; p.F40fs*14; 21:35181188-35181242 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.342C>A; p.I114I; 21:35181019-35181019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.431T>C; p.L144P; 21:35174801-35174801 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.227G>A; p.R76H; 21:35181134-35181134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.352-10T>A; p.?; 21:35174890-35174890 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.342C>A; p.I114I; 21:35181019-35181019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.318G>T; p.W106C; 21:35181043-35181043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.167T>C; p.L56S; 21:35181194-35181194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.291delC; p.L98fs*24; 21:35181070-35181070 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.A142_E143insELRNAT; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.530T>C; p.I177T; 21:35153724-35153724 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.112_166del55; p.R38fs*16; 21:35181195-35181249 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.179C>T; p.A60V; 21:35181182-35181182 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S141L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.N96S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R107H; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D198N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.P113L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.P216fs*38; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.A147_T148insLRNA; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D198G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R107C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.L98fs*24; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G135_N136insG; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.N139fs*5; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R107C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D198N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S226>RR; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R107C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.K171N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G199A; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R204*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R166fs*47; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G170fs*10; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D198G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.L56S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G199Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R162fs*43; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.T148fs*3; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S226*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R224fs*4; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S141L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.L112P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R204Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R166*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G170fs*7; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.W106C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D198V; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S172fs*4; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R191fs*22; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R204*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G59D; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.?; p.S265fs*334; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage |
c.?; p.R166*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.V81fs*57; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.N96S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G170fs*45; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R201*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.L56S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.V124fs*15; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.A142fs*3; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S308fs*307; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G408fs*193; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R204*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D326fs*5; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.A324_D326>LQH; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R166*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S141L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.474_487del14; p.N159fs*49; 21:35174745-35174758 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.444_445ins22; p.A149fs*2; 21:35174787-35174788 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S167_G168insSR; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.508+1ins?; p.?; 21:35174722-35174723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.494G>A; p.G165D; 21:35174738-35174738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.484A>G; p.R162G; 21:35174748-35174748 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.593A>G; p.D198G; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.496C>T; p.R166*; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.496C>T; p.R166*; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.593A>G; p.D198G; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.611G>A; p.R204Q; 21:35153643-35153643 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia |
c.?; p.R201*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.571_572insA; p.R191fs*22; 21:35153682-35153683 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R76S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R162M; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G165C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.508+?ins?; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R166*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R204*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G199N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.496C>T; p.R166*; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.281G>T; p.S94I; 21:35181080-35181080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.492_493ins?; p.?; 21:35174739-35174740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.1153_1157delTACCC; p.Y385fs*96; 21:35086588-35086592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.1014delG; p.L339fs*143; 21:35086731-35086731 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.967_968insTCAA; p.T323fs*161; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.712delG; p.V238fs*16; 21:35128670-35128670 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.843C>G; p.Y281*; 21:35093592-35093592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.777delT; p.F259fs*52; 21:35128605-35128605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.240_241insG; p.V81fs*57; 21:35181120-35181121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.422delC; p.S141fs*4; 21:35174810-35174810 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.749G>A; p.R250H; 21:35128633-35128633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.941_942delCT; p.S314fs*168; 21:35093493-35093494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.555A>T; p.Q185H; 21:35153699-35153699 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.496C>G; p.R166G; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.668A>G; p.E223G; 21:35128714-35128714 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.547C>G; p.P183A; 21:35153707-35153707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.428_429ins14; p.E143fs*7; 21:35174803-35174804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.494G>T; p.G165V; 21:35174738-35174738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.?; p.R166P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.?; p.R166P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.?; p.R166P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.610C>T; p.R204*; 21:35153644-35153644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.422C>A; p.S141*; 21:35174810-35174810 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.297_298insAGAC; p.S100fs*39; 21:35181063-35181064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.253C>A; p.H85N; 21:35181108-35181108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.330G>C; p.K110N; 21:35181031-35181031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.611G>A; p.R204Q; 21:35153643-35153643 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.342C>A; p.I114I; 21:35181019-35181019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.342C>A; p.I114I; 21:35181019-35181019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.441_442ins19; p.T148fs*2; 21:35174790-35174791 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.422_423insAGGC; p.A142fs*3; 21:35174809-35174810 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.342C>A; p.I114I; 21:35181019-35181019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.423_423G>CCTTCC; p.A142fs*5; 21:35174809-35174809 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.469delA; p.R157fs*19; 21:35174763-35174763 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.504_505insGAAGTGGA; p.R169fs*10; 21:35174727-35174728 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.508_509ins9; p.G170_K171insRRG; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.578T>C; p.I193T; 21:35153676-35153676 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.593A>G; p.D198G; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.334_335insCCC; p.T111_L112insP; 21:35181026-35181027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.492_492C>AGGA; p.V164_G165insG; 21:35174740-35174740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.750_751insACCGT; p.A251fs*5; 21:35128631-35128632 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.776_789del14; p.F259fs*219; 21:35128593-35128606 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.806-13T>A; p.?; 21:35093642-35093642 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.952delT; p.S318fs*10; 21:35093483-35093483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.959_959G>AGGGCCCA; p.R320fs*165; 21:35093476-35093476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.967_968ins14; p.T323fs*10; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.967+1delGTAA; p.?; 21:35093464-35093467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1172_1176delCGCAG; p.A391fs*90; 21:35086569-35086573 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1214_1215insACCT; p.Y406fs*78; 21:35086530-35086531 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.440C>A; p.A147D; 21:35174792-35174792 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.291delC; p.L98fs*24; 21:35181070-35181070 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.373delC; p.P125fs*8; 21:35174859-35174859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.493_494insTTTTG; p.G165fs*13; 21:35174738-35174739 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.445_446ins22; p.A149fs*2; 21:35174786-35174787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.352-10T>A; p.?; 21:35174890-35174890 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage_associated_with_MDS |
c.964_965delTC; p.S322fs*160; 21:35093470-35093471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.1256_1266del11; p.V419fs*60; 21:35086479-35086489 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.595G>A; p.G199R; 21:35153659-35153659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.300_301insC; p.V101fs*37; 21:35181060-35181061 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1164_1165insG; p.S389fs*94; 21:35086580-35086581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.494G>A; p.G165D; 21:35174738-35174738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.238_239insG; p.E80fs*58; 21:35181122-35181123 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.952_953insT; p.S318fs*165; 21:35093482-35093483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1090_1103del14; p.I364fs*114; 21:35086642-35086655 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.352-1G>A; p.?; 21:35174881-35174881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.488T>A; p.F163Y; 21:35174744-35174744 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.329A>G; p.K110R; 21:35181032-35181032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.540_541insC; p.T181fs*32; 21:35153713-35153714 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.1396A>T; p.M466L; 21:35086349-35086349 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1274C>A; p.P425Q; 21:35086471-35086471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.325_326insTGCA; p.N109fs*30; 21:35181035-35181036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.1190A>G; p.Q397R; 21:35086555-35086555 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.1223_1224insG; p.A409fs*74; 21:35086521-35086522 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.223G>T; p.D75Y; 21:35181138-35181138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.522T>G; p.T174T; 21:35153732-35153732 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia |
c.?; p.K110Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.?; p.R107C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.?; p.S141*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.167T>C; p.L56S; 21:35181194-35181194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.?; p.R107C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R166P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.611G>A; p.R204Q; 21:35153643-35153643 |
lung | carcinoma; squamous_cell_carcinoma |
c.936C>A; p.T312T; |
ovary | other; neoplasm |
c.?; p.Y377fs*22; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.497G>A; p.R166Q; 21:35174735-35174735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.968-10C>A; p.?; 21:35086787-35086787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.320G>A; p.R107H; 21:35181041-35181041 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.223G>T; p.D75Y; 21:35181138-35181138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.318G>C; p.W106C; 21:35181043-35181043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.423_424ins14; p.A142fs*8; 21:35174808-35174809 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.593A>T; p.D198V; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.506_507ins11; p.R169fs*11; 21:35174725-35174726 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.395_396insT; p.M133fs*5; 21:35174836-35174837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.245_246insTGCTT; p.D84fs*40; 21:35181115-35181116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.464_465ins60; p.V155_A156ins20; 21:35174767-35174768 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?_?del?; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1036_1037insC; p.R346fs*137; 21:35086708-35086709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.330G>T; p.K110N; 21:35181031-35181031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?_?del?; p.0?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.395_396delTG; p.V132fs*5; 21:35174836-35174837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.437A>T; p.N146I; 21:35174795-35174795 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.494G>T; p.G165V; 21:35174738-35174738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.460C>T; p.Q154*; 21:35174772-35174772 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera |
c.292delC; p.L98fs*24; 21:35181069-35181069 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.315C>A; p.H105Q; 21:35181046-35181046 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.318G>T; p.W106C; 21:35181043-35181043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.496C>G; p.R166G; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.593A>G; p.D198G; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.859_860insCAAT; p.Y287fs*197; 21:35093575-35093576 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.352_352delG; p.V118fs*4; 21:35174880-35174880 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.1221_1225delCGGCG; p.G408fs*73; 21:35086520-35086524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.155T>A; p.M52K; 21:35181206-35181206 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.399_399delG; p.A134fs*11; 21:35174833-35174833 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.167T>C; p.L56S; 21:35181194-35181194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.167T>C; p.L56S; 21:35181194-35181194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.184_185insGCGC; p.D62fs*77; 21:35181176-35181177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.195_223del29; p.A66fs*62; 21:35181138-35181166 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.243_244insTG; p.L82fs*41; 21:35181117-35181118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.299C>T; p.S100F; 21:35181062-35181062 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.593A>G; p.D198G; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.332C>A; p.T111N; 21:35181029-35181029 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.335_339delTGCCC; p.L112fs*24; 21:35181022-35181026 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.338C>T; p.P113L; 21:35181023-35181023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.486G>C; p.R162S; 21:35174746-35174746 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.361_362insCC; p.L121fs*2; 21:35174870-35174871 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.427_428ins25; p.E143fs*3; 21:35174804-35174805 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.449_449delC; p.M151fs*1; 21:35174783-35174783 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.454_454delA; p.K152fs*24; 21:35174778-35174778 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.480C>A; p.D160E; 21:35174752-35174752 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.496C>T; p.R166*; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.497G>A; p.R166Q; 21:35174735-35174735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.497G>A; p.R166Q; 21:35174735-35174735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.610C>T; p.R204*; 21:35153644-35153644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.611G>A; p.R204Q; 21:35153643-35153643 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.724_737del14; p.H242fs*14; 21:35128645-35128658 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.796C>T; p.Q266*; 21:35128586-35128586 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.934_935insA; p.T312fs*171; 21:35093500-35093501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia |
c.1036_1037insC; p.R346fs*137; 21:35086708-35086709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.1096_1103delATCGGCAT; p.I366fs*114; 21:35086642-35086649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.V155fs*6; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.V155fs*6; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.V118fs*6; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.V118fs*6; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.V164_G165insKV; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.R201*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.R201*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.F163Efs; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.F163Efs; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.V132L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.V132L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.L112fs*11; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.V119_A120insV; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.F180fs*32; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.V119_A120insV; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.F180fs*32; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.T148fs*1; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.G50fs*4; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.710G>A; p.R237K; 21:35128672-35128672 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.593A>G; p.D198G; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.1274C>T; p.P425L; 21:35086471-35086471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.720_733del14; p.H242fs*14; 21:35128649-35128662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.610C>T; p.R204*; 21:35153644-35153644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.622C>T; p.Q208*; 21:35128760-35128760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.167T>C; p.L56S; 21:35181194-35181194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.329A>G; p.K110R; 21:35181032-35181032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.485G>A; p.R162K; 21:35174747-35174747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.493G>T; p.G165C; 21:35174739-35174739 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.385_386insNNNNN; p.L129fs; 21:35174846-35174847 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.524T>C; p.L175P; 21:35153730-35153730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.593A>T; p.D198V; 21:35153661-35153661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?_?del?; p.0?; |
oesophagus | carcinoma; adenocarcinoma |
c.?; p.D198G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.?; p.S322fs*571; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.?; p.G199W; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome_therapy_related |
c.?; p.S167R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.D198N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.?; p.A65fs*72; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.422C>A; p.S141*; 21:35174810-35174810 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.496C>G; p.R166G; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.266T>G; p.L89R; 21:35181095-35181095 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.269T>C; p.V90A; 21:35181092-35181092 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.270_271ins26; p.(R91)fs; 21:35181090-35181091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.734C>T; p.P245L; 21:35128648-35128648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.167T>C; p.L56S; 21:35181194-35181194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.641C>T; p.T214I; 21:35128741-35128741 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.452T>G; p.M151R; 21:35174780-35174780 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.596G>C; p.G199A; 21:35153658-35153658 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.502G>T; p.G168*; 21:35174730-35174730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related |
c.?; p.D84fs*40; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis |
c.?; p.R320*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm |
c.268_351del84; p.V90_K117del; 21:35181010-35181093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.898_899insAA; p.T300fs*12; 21:35093536-35093537 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable |
c.?; p.G87fs*52; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.Y403fs*197; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.421T>C; p.S141P; 21:35174811-35174811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.421T>C; p.S141P; 21:35174811-35174811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.424_432GCTGAGCTG>ACCCCC; p.A142_L144>TP; 21:35174800-35174808 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.589G>T; p.V197L; 21:35153665-35153665 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1090_1103del14; p.I364fs*114; 21:35086642-35086655 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.583_584insAT; p.I195fs*17; 21:35153670-35153671 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1189_1189delC; p.Q397fs*85; 21:35086556-35086556 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1077_1078insTGGGGC; p.P359_V360insWG; 21:35086667-35086668 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.296G>A; p.C99Y; 21:35181065-35181065 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1073_1074insC; p.P359fs*124; 21:35086671-35086672 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.431T>C; p.L144P; 21:35174801-35174801 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.316T>C; p.W106R; 21:35181045-35181045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.493G>A; p.G165S; 21:35174739-35174739 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.497_498insTTCAACG; p.G168fs*47; 21:35174734-35174735 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.479A>T; p.D160V; 21:35174753-35174753 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.432_441del10; p.R145fs*4; 21:35174791-35174800 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.496C>T; p.R166*; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.F330fs*151; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.?; p.N96fs*24; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm |
c.?; p.A224fs*?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.1313_1314insG; p.S439fs*44; 21:35086431-35086432 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.497G>T; p.R166L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.478G>T; p.D160Y; 21:35174754-35174754 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.648_649insC; p.G217fs*11; 21:35128736-35128737 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.675_676insC; p.S226fs*2; 21:35128706-35128707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.993_994ins10; p.D332fs*154; 21:35086751-35086752 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.667_668delGA; p.E223fs*4; 21:35128714-35128715 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.445_446ins22; p.A149fs*2; 21:35174786-35174787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1065_1065delC; p.S356fs*126; 21:35086680-35086680 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.510_510delG; p.S172fs*4; 21:35153744-35153744 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.493G>C; p.G165R; 21:35174739-35174739 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.319C>T; p.R107C; 21:35181042-35181042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.937_938delCT; p.S314fs*168; 21:35093497-35093498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.188_194delCCGGCGC; p.A63fs*7; 21:35181167-35181173 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.312_313insG; p.H105fs*33; 21:35181048-35181049 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.284_285insTGG; p.P95_N96insG; 21:35181076-35181077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.R107C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.425_426insCGGC; p.E143fs*2; 21:35174806-35174807 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1-30insC; p.?; 21:35343095-35343096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1011_1012insC; p.A338fs*145; 21:35086733-35086734 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1190_1191insG; p.A398fs*85; 21:35086554-35086555 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1142_1143insACCT; p.P383fs*101; 21:35086602-35086603 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1024_1025insGGGC; p.I342fs*142; 21:35086720-35086721 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1265_1266delAG; p.E422fs*60; 21:35086479-35086480 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1090_1103del14; p.I364fs*114; 21:35086642-35086655 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.424_425insTCCC; p.A142fs*3; 21:35174807-35174808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.292delC; p.L98fs*24; 21:35181069-35181069 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.337C>G; p.P113A; 21:35181024-35181024 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.601C>G; p.R201G; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.443_444ins71; p.A149fs*8; 21:35174788-35174789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.336_341delGCCCAT; p.P113_I114del; 21:35181020-35181025 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.347_348ins34; p.F116fs*33; 21:35181013-35181014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.340_344delATCGC; p.I114fs*22; 21:35181017-35181021 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.442_443insGAGTAGAT; p.T148fs*7; 21:35174789-35174790 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.445_446ins22; p.A149fs*2; 21:35174786-35174787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.676_677insGC; p.E227fs*11; 21:35128705-35128706 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.751_762>AAC; p.A251_N254>N; 21:35128620-35128631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1344_1345insGAGC; p.Q449fs*35; 21:35086400-35086401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1036_1037insC; p.R346fs*137; 21:35086708-35086709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1153_1154insT; p.Y385fs*98; 21:35086591-35086592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1247_1248insAGCCCCC; p.F416fs*69; 21:35086497-35086498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1015_1016ins12; p.A338_L339insQFPA; 21:35086729-35086730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1036_1037insC; p.R346fs*137; 21:35086708-35086709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1034C>G; p.P345R; 21:35086711-35086711 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1164_1165delGT; p.S389fs*93; 21:35086580-35086581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.340_344delATCGC; p.I114fs*22; 21:35181017-35181021 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.442_443insGAGTAGAT; p.T148fs*7; 21:35174789-35174790 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.694C>T; p.R232W; 21:35128688-35128688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.338C>T; p.P113L; 21:35181023-35181023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1184C>T; p.P395L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.694C>T; p.R232W; 21:35128688-35128688 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.807_808insA; p.T270fs*>212; |
breast | carcinoma; lobular_carcinoma |
c.492_493insTAGCC; p.G165fs*1; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.497_498insGTCG; p.G168fs*46; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dentritic_cell_neoplasm |
c.965C>G; p.S322*; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.1212C>T; p.H404H; 21:35086533-35086533 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1108G>A; p.A370T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?; p.L56S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.L405fs*196; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.474delT; p.F158fs*18; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.1262_1263insTGGGGGC; p.E422fs*63; 21:35086482-35086483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.508_508+1insAG; p.G170fs*7; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.784C>T; p.Q262*; |
oesophagus | carcinoma; adenocarcinoma |
c.694C>T; p.R232W; 21:35128688-35128688 |
oesophagus | carcinoma; adenocarcinoma |
c.728C>T; p.P243L; |
oesophagus | carcinoma; adenocarcinoma |
c.602G>A; p.R201Q; 21:35153652-35153652 |
oesophagus | carcinoma; adenocarcinoma |
c.1220A>G; p.Y407C; |
liver | carcinoma |
c.801G>A; p.M267I; |
large_intestine; colon | carcinoma |
c.?; p.Y377fs*223; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.H105Y; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.Y380*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.S318fs*281; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia |
c.?; p.L313fs*287; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.?; p.N146fs*159; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.N146fs*6; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.G170R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.G170R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.R201Q; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.A142fs*2; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?; p.Y380*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia |
c.?; p.N146fs*6; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.?; p.W106L; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |
c.944C>T; p.A315V; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.338C>T; p.P113L; 21:35181023-35181023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.492_493insTAGCC; p.G165fs*1; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.423_424insCCC; p.S141_A142insP; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1036_1037insC; p.R346fs*137; 21:35086708-35086709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.445G>A; p.A149T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.755C>T; p.S252F; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.703G>A; p.A235T; |
lung | carcinoma; adenocarcinoma |
c.188C>T; p.A63V; |
lung | carcinoma; adenocarcinoma |
c.160G>C; p.E54Q; |
lung | carcinoma; adenocarcinoma |
c.1098C>T; p.I366I; |
lung | carcinoma; adenocarcinoma |
c.22G>C; p.E8Q; |
lung | carcinoma; adenocarcinoma |
c.(961_963)insA; p.?fs; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.?_?del?; p.0?; |
oesophagus | carcinoma; adenocarcinoma |
c.?_?del?; p.0?; |
oesophagus | carcinoma; adenocarcinoma |
c.253C>A; p.H85N; 21:35181108-35181108 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.312delG; p.H105fs*17; |
NS | NS |
c.393T>A; p.T131T; |
breast | carcinoma |
c.1232C>T; p.A411V; |
prostate | carcinoma |
c.531_532insATC; p.I177_T178insI; 21:35153722-35153723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.531_532insATC; p.I177_T178insI; 21:35153722-35153723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.358delG; p.A120fs*2; 21:35174874-35174874 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.358delG; p.A120fs*2; 21:35174874-35174874 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.447A>G; p.A149A; 21:35174785-35174785 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.583_584insAAAA; p.I195fs*19; 21:35153670-35153671 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia |
c.496C>T; p.R166*; 21:35174736-35174736 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.371_372ins10; p.P125fs*16; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.491T>C; p.V164A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?_?del?; p.0?; |
oesophagus | carcinoma; adenocarcinoma |
c.444C>T; p.T148T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1302C>T; p.N434N; |
ovary | carcinoma; serous_carcinoma |
c.592G>A; p.D198N; 21:35153662-35153662 |
lung | carcinoma; adenocarcinoma |
c.602G>A; p.R201Q; 21:35153652-35153652 |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.967+2_967+3insT; p.?; |
breast | carcinoma |
c.524T>C; p.L175P; 21:35153730-35153730 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.437A>G; p.N146S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.959G>A; p.R320Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.367_368insG; p.D123fs*15; |
breast | carcinoma |
c.416A>G; p.N139S; |
breast | carcinoma |
c.949C>T; p.L317F; |
breast | carcinoma |
c.555A>G; p.Q185Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.353T>C; p.V118A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.493G>A; p.G165S; 21:35174739-35174739 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.493G>A; p.G165S; 21:35174739-35174739 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.493G>A; p.G165S; 21:35174739-35174739 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.784C>T; p.Q262*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.530T>C; p.I177T; 21:35153724-35153724 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.514delA; p.S172fs*4; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.486G>A; p.R162R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.530T>C; p.I177T; 21:35153724-35153724 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>G; p.R201G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.422_423insC; p.A142fs*2; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.501T>A; p.S167R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.501_506delTGGAAG; p.S167_G168delSG; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.502G>C; p.G168R; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.367_368insGG; p.D123fs*11; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1258_1280del23; p.G420fs*>54; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.422C>T; p.S141L; 21:35174810-35174810 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.484A>G; p.R162G; 21:35174748-35174748 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.509-2A>C; p.?; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.485G>A; p.R162K; 21:35174747-35174747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.287_288insA; p.N96fs*42; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.484A>G; p.R162G; 21:35174748-35174748 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.958C>T; p.R320*; 21:35093477-35093477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.602G>A; p.R201Q; 21:35153652-35153652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.338C>T; p.P113L; 21:35181023-35181023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.601C>T; p.R201*; 21:35153653-35153653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.445G>C; p.A149P; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.492_493insTAGCC; p.G165fs*1; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.577A>G; p.I193V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.599C>A; p.P200H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.651_667del17; p.S218fs*4; |
breast | carcinoma |
c.479A>G; p.D160G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1048C>T; p.P350S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.551C>T; p.P184L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.611G>A; p.R204Q; 21:35153643-35153643 |
endometrium | carcinoma; endometrioid_carcinoma |
c.482T>C; p.L161P; |
breast | carcinoma |
c.334delC; p.L112fs*10; |
breast | carcinoma |
c.1011C>T; p.P337P; |
breast | carcinoma |
c.941_942delCT; p.S314fs*168; 21:35093493-35093494 |
breast | carcinoma |
c.885_891delTGTGCAC; p.V296fs*13; |
breast | carcinoma |
c.462G>A; p.Q154Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.26C>A; p.S9*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.737C>T; p.T246M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.694C>T; p.R232W; 21:35128688-35128688 |
endometrium | carcinoma; endometrioid_carcinoma |
c.485G>A; p.R162K; 21:35174747-35174747 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.841T>C; p.Y281H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.530T>C; p.I177T; 21:35153724-35153724 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.530T>C; p.I177T; 21:35153724-35153724 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.555A>G; p.Q185Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.960A>G; p.R320R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.959G>A; p.R320Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.959G>A; p.R320Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.520A>T; p.T174S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.342C>T; p.I114I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.345T>G; p.A115A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.796C>T; p.Q266*; 21:35128586-35128586 |
breast | carcinoma |
c.427_441del15; p.E143_A147delELRNA; |
breast | carcinoma |
c.695G>T; p.R232L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.860_861insTA; p.L288fs*24; |
breast | carcinoma |
c.404G>A; p.G135D; |
breast | carcinoma |
c.593A>G; p.D198G; 21:35153661-35153661 |
breast | carcinoma |
c.505_506insA; p.R169fs*44; |
breast | carcinoma |
c.351+1_351+2insG; p.?; |
breast | carcinoma |
c.372delT; p.P125fs*8; |
breast | carcinoma |
c.735_736insC; p.T246fs*15; |
breast | carcinoma |
c.337C>T; p.P113S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.502G>C; p.G168R; |
breast | carcinoma |
c.759G>A; p.L253L; |
breast | carcinoma |
c.565T>C; p.Y189H; |
breast | carcinoma |
c.481_482insC; p.L161fs*52; |
breast | carcinoma |
c.367_368insG; p.D123fs*15; |
breast | carcinoma |
c.959G>A; p.R320Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.529A>G; p.I177V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.959G>A; p.R320Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.555A>G; p.Q185Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.593A>G; p.D198G; 21:35153661-35153661 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.228C>T; p.R76R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.595G>A; p.G199R; 21:35153659-35153659 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.603A>G; p.R201R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.484A>G; p.R162G; 21:35174748-35174748 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.493G>T; p.G165C; 21:35174739-35174739 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.460C>T; p.Q154*; 21:35174772-35174772 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.35C>T; p.S12L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.611G>A; p.R204Q; 21:35153643-35153643 |
endometrium | carcinoma; endometrioid_carcinoma |
c.441T>A; p.A147A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.842A>T; p.Y281F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.447A>G; p.A149A; 21:35174785-35174785 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.384T>C; p.T128T; 21:35174848-35174848 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.508+1G>C; p.?; |
breast | carcinoma |
c.400G>C; p.A134P; |
urinary_tract; bladder | carcinoma |
c.958C>A; p.R320R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.497G>T; p.R166L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.551C>A; p.P184Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.522T>C; p.T174T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.611G>T; p.R204L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.776_783delTTAACCCT; p.F259fs*>220; |
breast | carcinoma |
c.850_865del16; p.S284fs*22; |
breast | carcinoma |
c.341T>C; p.I114T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.551C>T; p.P184L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.486G>A; p.R162R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.495T>C; p.G165G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.54G>C; p.M18I; |
urinary_tract; bladder | carcinoma |
c.748C>T; p.R250C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.841T>C; p.Y281H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.437A>G; p.N146S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.445G>A; p.A149T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.523C>T; p.L175L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.461A>G; p.Q154R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.554A>G; p.Q185R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.431T>C; p.L144P; 21:35174801-35174801 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.595G>A; p.G199R; 21:35153659-35153659 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.31C>T; p.P11S; |
skin | malignant_melanoma |
c.?; p.L56S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm |
c.?; p.R162K; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm |
c.523_524insTGCCT; p.T176fs*2; 21:35153730-35153731 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm |
c.?; p.Q262*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm |
c.?; p.S400*; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm |
c.592G>A; p.D198N; 21:35153662-35153662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS |