General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 7490 |
Name | WT1 |
Synonymous | Wilms tumor 1;WT1;Wilms tumor 1 |
Definition | Wilms tumor protein|amino-terminal domain of EWS|last three zinc fingers of the DNA-binding domain of WT1 |
Position | 11p13 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
There is no record for WT1 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.69. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.1104C>G; p.D368E; 11:32392697-32392697 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm | Substitution - Missense |
c.1297_1298insTTAGTCC; p.R433fs*21; 11:32389110-32389111 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.926_936>AGT; p.T309fs*5; 11:32396366-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.924_925ins13; p.T309fs*12; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.921_922ins17; p.P308fs*5; 11:32396380-32396381 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.923_923C>GAT; p.P308fs*2; 11:32396379-32396379 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Complex - frameshift |
c.1297_1298insC; p.R433fs*19; 11:32389110-32389111 |
kidney | Wilms_tumour; bilateral | Insertion - Frameshift |
c.905_906insGTAACCCG; p.V303fs*1; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1071C>G; p.F357L; 11:32392730-32392730 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1169G>A; p.R390Q; 11:32392031-32392031 |
skin | malignant_melanoma | Substitution - Missense |
c.1297_1298insC; p.R433fs*19; 11:32389110-32389111 |
kidney | Wilms_tumour; bilateral | Insertion - Frameshift |
c.1036A>C; p.K346Q; 11:32396266-32396266 |
ovary | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.710C>T; p.T237I; 11:32417613-32417613 |
skin | malignant_melanoma | Substitution - Missense |
c.905_906GT>CCGACCC; p.R302fs*7; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1239C>A; p.P413P; 11:32389169-32389169 |
skin | malignant_melanoma | Substitution - coding silent |
c.928_937CTTGTACGGT>GAAACGTC; p.L310fs*6; 11:32396365-32396374 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.619G>A; p.D207N; 11:32428005-32428005 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1293_1294insA; p.V432fs*20; 11:32389114-32389115 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.926_945del20; p.T309fs*4; 11:32396357-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.744G>A; p.K248K; 11:32417579-32417579 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1172_1177delAGTTCT; p.K391_S393>T; 11:32392023-32392028 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.1136_1228del93; p.V380_S410del; 11:32391972-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1136_1228del93; p.V380_S410del; 11:32391972-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1136_1228del93; p.V380_S410del; 11:32391972-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.120_121insT; p.A41fs*90; 11:32435021-32435022 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.1136_1228del93; p.V380_S410del; 11:32391972-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1136_1228del93; p.V380_S410del; 11:32391972-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.905_906insC; p.V303fs*14; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1136_1228del93; p.V380_S410del; 11:32391972-32392064 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.483_484insCGGT; p.H162fs*19; 11:32428578-32428579 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.1013C>A; p.S338Y; 11:32396289-32396289 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.483_484insCGGT; p.H162fs*19; 11:32428578-32428579 |
kidney | other; nephrogenic_rest | Insertion - Frameshift |
c.1163G>A; p.C388Y; 11:32392037-32392037 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.833C>T; p.T278M; 11:32400009-32400009 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169G>C; p.R390P; 11:32392031-32392031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; granulocytic_sarcoma | Substitution - Missense |
c.904delC; p.R302fs*5; 11:32396398-32396398 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.833C>T; p.T278M; 11:32400009-32400009 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.833C>T; p.T278M; 11:32400009-32400009 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169G>C; p.R390P; 11:32392031-32392031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.904delC; p.R302fs*5; 11:32396398-32396398 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.319T>A; p.C107S; 11:32434823-32434823 |
kidney | Wilms_tumour | Substitution - Missense |
c.905_906insT; p.V303fs*14; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.937_938insT; p.S313fs*4; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.557_562GCTCGC>CCCCTACCCGA; p.G186fs*34; 11:32428500-32428505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1037A>G; p.K346R; 11:32396265-32396265 |
kidney | Wilms_tumour | Substitution - Missense |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.857A>G; p.Y286C; 11:32399985-32399985 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1220G>A; p.G407D; 11:32391980-32391980 |
skin | malignant_melanoma | Substitution - Missense |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941insTCGG; p.A314fs*4; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1226C>A; p.T409K; 11:32391974-32391974 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.137C>A; p.S46*; 11:32435005-32435005 |
kidney | other; nephrogenic_rest | Substitution - Nonsense |
c.137C>A; p.S46*; 11:32435005-32435005 |
kidney | other; nephrogenic_rest | Substitution - Nonsense |
c.137C>A; p.S46*; 11:32435005-32435005 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.405C>T; p.P135P; 11:32434737-32434737 |
pancreas | carcinoma | Substitution - coding silent |
c.910_911insTG; p.P304fs*4; 11:32396391-32396392 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.995A>T; p.K332M; 11:32396307-32396307 |
liver | carcinoma | Substitution - Missense |
c.870G>A; p.T290T; 11:32399972-32399972 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.870G>A; p.T290T; 11:32399972-32399972 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.936_937insAACGG; p.S313fs*70; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.936_937insAACGG; p.S313fs*70; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.995A>T; p.K332M; 11:32396307-32396307 |
liver | carcinoma | Substitution - Missense |
c.1084C>T; p.R362*; 11:32392717-32392717 |
kidney | Wilms_tumour; unilateral | Substitution - Nonsense |
c.1158A>T; p.K386N; 11:32392042-32392042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1084C>T; p.R362*; 11:32392717-32392717 |
kidney | Wilms_tumour; unilateral | Substitution - Nonsense |
c.938_939ins37; p.A314fs*15; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.924_925insACTCTTGT; p.R312fs*72; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.332C>A; p.P111H; 11:32434614-32434614 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.901_902insTGTGC; p.R301fs*8; 11:32396400-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.548_549insG; p.Q184fs*7; 11:32428513-32428514 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.937_938insACGGT; p.S313fs*70; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_938insACGGT; p.S313fs*70; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_938insACGGT; p.S313fs*70; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insA; p.R312fs*5; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insA; p.R312fs*5; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.934_935insA; p.R312fs*5; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insA; p.R312fs*5; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insA; p.R312fs*5; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.904_905insCGAC; p.R302fs*16; 11:32396397-32396398 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insA; p.R312fs*5; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.903A>G; p.R301R; 11:32396399-32396399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1180C>G; p.R394G; 11:32392020-32392020 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.1291_1297TTAGTCC>CATGCCCG; p.L431fs*21; 11:32389111-32389117 |
kidney | Wilms_tumour; unilateral | Complex - frameshift |
c.1136-1G>A; p.?; 11:32392065-32392065 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.901C>G; p.R301G; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1136-1G>A; p.?; 11:32392065-32392065 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.362C>A; p.S121*; 11:32434780-32434780 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.1136-1G>A; p.?; 11:32392065-32392065 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.901C>G; p.R301G; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.362C>A; p.S121*; 11:32434780-32434780 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.1180C>G; p.R394G; 11:32392020-32392020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.362C>A; p.S121*; 11:32434780-32434780 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.844T>G; p.C282G; 11:32399998-32399998 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.925_926insGGTGGCCA; p.T309fs*75; 11:32396376-32396377 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.938_939insTC; p.A314fs*68; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.917_918ins13; p.A307fs*14; 11:32396384-32396385 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.917_918ins13; p.A307fs*14; 11:32396384-32396385 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.858C>T; p.Y286Y; 11:32399984-32399984 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1135G>T; p.G379C; 11:32392666-32392666 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.581_582insGGGGGCT; p.V195fs*32; 11:32428042-32428043 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.907_908insAT; p.V303fs*5; 11:32396394-32396395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_938insGG; p.S313fs*69; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.936_937ins13; p.S313fs*8; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1125G>A; p.R375R; 11:32392676-32392676 |
NS | malignant_melanoma | Substitution - coding silent |
c.1125G>A; p.R375R; 11:32392676-32392676 |
NS | malignant_melanoma | Substitution - coding silent |
c.1125G>A; p.R375R; 11:32392676-32392676 |
skin | malignant_melanoma | Substitution - coding silent |
c.747_797del51; p.?; 11:32416490-32416540 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Unknown |
c.900_937del38; p.R301fs*3; 11:32396365-32396402 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Deletion - Frameshift |
c.477C>T; p.S159S; 11:32428585-32428585 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1324_1325delAT; p.M442fs*9; 11:32389083-32389084 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.905_906insGCCG; p.V303fs*15; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.895-2A>C; p.?; 11:32396409-32396409 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.923_924insC; p.T309fs*8; 11:32396378-32396379 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.923_924insC; p.T309fs*8; 11:32396378-32396379 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.168delG; p.P57fs*33; 11:32434974-32434974 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.924_925insGGTT; p.T309fs*9; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.925_926insTGGGA; p.T309fs*74; 11:32396376-32396377 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.354C>G; p.S118R; 11:32434788-32434788 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.819C>T; p.S273S; 11:32400023-32400023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.937_938insG; p.S313fs*4; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_929delCT; p.L310fs*6; 11:32396373-32396374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.902_906GACGT>AAGA; p.R301fs*6; 11:32396396-32396400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.905G>C; p.R302P; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.937_938insTCGGT; p.S313fs*70; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.905G>C; p.R302P; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.993_993delT; p.N331fs*50; 11:32396309-32396309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.993_993delT; p.N331fs*50; 11:32396309-32396309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.932_933insGATCCTT; p.R312fs*7; 11:32396369-32396370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.442_442+2GGT>TTG; p.?; 11:32434698-32434700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.905G>C; p.R302P; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1006A>G; p.K336E; 11:32396296-32396296 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.856T>G; p.Y286D; 11:32399986-32399986 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.968_969insC; p.M324fs*9; 11:32396333-32396334 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.929_930insCT; p.V311fs*71; 11:32396372-32396373 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.895-4_900GCAGGATGTG>C; p.?; 11:32396402-32396411 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.893A>G; p.Q298R; 11:32399949-32399949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.817A>G; p.S273G; 11:32400025-32400025 |
peritoneum | mesothelioma; multicystic | Substitution - Missense |
c.933_934insCGGAGGGA; p.S313fs*71; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.817A>G; p.S273G; 11:32400025-32400025 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.435_436insTATTCGC; p.N146fs*36; 11:32434706-32434707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.813_814insTACG; p.E272fs*5; 11:32400028-32400029 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.817A>G; p.S273G; 11:32400025-32400025 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.527_528insTC; p.K177fs*42; 11:32428534-32428535 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.904_905insC; p.R302fs*15; 11:32396397-32396398 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.924_925insGTGGTGGG; p.T309fs*75; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.443-6C>A; p.?; 11:32428625-32428625 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.1178C>A; p.S393Y; 11:32392022-32392022 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1186G>A; p.D396N; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.937_938ins25; p.S313fs*12; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1186G>A; p.D396N; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.934_934C>TGA; p.R312*; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.442+1G>T; p.?; 11:32434699-32434699 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.1186G>A; p.D396N; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1186G>A; p.D396N; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.934_935insG; p.S313fs*4; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1186G>A; p.D396N; 11:32392014-32392014 |
kidney | Wilms_tumour; bilateral | Substitution - Missense |
c.1186G>A; p.D396N; 11:32392014-32392014 |
kidney | Wilms_tumour; bilateral | Substitution - Missense |
c.1186G>A; p.D396N; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1186G>A; p.D396N; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1186G>A; p.D396N; 11:32392014-32392014 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844T>C; p.C282R; 11:32399998-32399998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.746G>A; p.G249E; 11:32417577-32417577 |
skin | malignant_melanoma | Substitution - Missense |
c.844T>C; p.C282R; 11:32399998-32399998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844T>C; p.C282R; 11:32399998-32399998 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.844T>C; p.C282R; 11:32399998-32399998 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.844T>C; p.C282R; 11:32399998-32399998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.844T>C; p.C282R; 11:32399998-32399998 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.904_907CGTG>12; p.V303fs*7; 11:32396395-32396398 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.455_459delTCACC; p.T153fs*25; 11:32428603-32428607 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.901_901C>TCA; p.R301fs*7; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.926_927insAAGAGAC; p.L310fs*9; 11:32396375-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1181G>T; p.R394L; 11:32392019-32392019 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.520C>A; p.H174N; 11:32428542-32428542 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1246T>G; p.C416G; 11:32389162-32389162 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>T; p.R394L; 11:32392019-32392019 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.926_927insAAGAGAC; p.L310fs*9; 11:32396375-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1098T>C; p.R366R; 11:32392703-32392703 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.856T>A; p.Y286N; 11:32399986-32399986 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1150C>T; p.Q384*; 11:32392050-32392050 |
skin | malignant_melanoma | Substitution - Nonsense |
c.905_905G>CC; p.R302fs*15; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.905_905G>CC; p.R302fs*15; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.905_905G>CC; p.R302fs*15; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.905_905G>CC; p.R302fs*15; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.92C>T; p.A31V; 11:32435050-32435050 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.924_925ins13; p.T309fs*12; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.452C>T; p.T151M; 11:32428610-32428610 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1297_1298delCG; p.R433fs*18; 11:32389110-32389111 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.901_934>12; p.R301fs*73; 11:32396368-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.355C>T; p.Q119*; 11:32434787-32434787 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.566-1G>T; p.?; 11:32428059-32428059 |
kidney | Wilms_tumour | Unknown |
c.355C>T; p.Q119*; 11:32434787-32434787 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.1297_1298insT; p.R433fs*19; 11:32389110-32389111 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.602G>A; p.G201D; 11:32428022-32428022 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.1111A>G; p.K371E; 11:32392690-32392690 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.657G>A; p.T219T; 11:32427967-32427967 |
pancreas | carcinoma | Substitution - coding silent |
c.1111A>G; p.K371E; 11:32392690-32392690 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.657G>A; p.T219T; 11:32427967-32427967 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.459C>A; p.T153T; 11:32428603-32428603 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1125G>T; p.R375S; 11:32392676-32392676 |
thyroid | carcinoma | Substitution - Missense |
c.686_686delT; p.M229fs*8; 11:32417637-32417637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.978T>A; p.A326A; 11:32396324-32396324 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.933_934ins10; p.S313fs*7; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma | Insertion - Frameshift |
c.1153_1159TGTAAAA>18; p.C385fs*6; 11:32392041-32392047 |
kidney | Wilms_tumour; unilateral | Complex - frameshift |
c.933_934insCGGTC; p.A314fs*69; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.541C>T; p.P181S; 11:32428521-32428521 |
kidney | Wilms_tumour | Substitution - Missense |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - Frameshift |
c.928_931delCTTG; p.L310fs*70; 11:32396371-32396374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.928_931delCTTG; p.L310fs*70; 11:32396371-32396374 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.938_939insCGGTC; p.A314fs*69; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.937_938insTGTACGGT; p.S313fs*71; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.941C>G; p.A314G; 11:32396361-32396361 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.937_938insTGTACGGT; p.S313fs*71; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.231_264del34; p.W78fs*1; 11:32434878-32434911 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.937_938insTGTACGGT; p.S313fs*71; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.897_904delTGTGCGAC; p.D299fs*15; 11:32396398-32396405 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.155G>A; p.G52D; 11:32434987-32434987 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1172A>C; p.K391T; 11:32392028-32392028 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1045+1G>C; p.?; 11:32396256-32396256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1096C>T; p.R366C; 11:32392705-32392705 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.507G>A; p.A169A; 11:32428555-32428555 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1096C>T; p.R366C; 11:32392705-32392705 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1096C>T; p.R366C; 11:32392705-32392705 |
skin | malignant_melanoma | Substitution - Missense |
c.1096C>T; p.R366C; 11:32392705-32392705 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.901_901C>GG; p.R301fs*16; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.904_905ins12; p.R301_R302insLLKV; 11:32396397-32396398 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.506_507ins16; p.Q170fs*15; 11:32428555-32428556 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.901_901C>GG; p.R301fs*16; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1020_1021ins10; p.Q341fs*13; 11:32396281-32396282 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.901_901C>GG; p.R301fs*16; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.241G>A; p.A81T; 11:32434901-32434901 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.931G>A; p.V311I; 11:32396371-32396371 |
kidney | Wilms_tumour | Substitution - Missense |
c.63_63delC; p.G22fs*7; 11:32434883-32434883 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.934_934C>AG; p.S313fs*4; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1213C>T; p.H405Y; 11:32391987-32391987 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.743_744insAA; p.G249fs*11; 11:32417579-32417580 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.743_744insAA; p.G249fs*11; 11:32417579-32417580 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.172delC; p.P58fs*32; 11:32434970-32434970 |
kidney | Wilms_tumour; bilateral | Deletion - Frameshift |
c.675T>G; p.N225K; 11:32417648-32417648 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.172delC; p.P58fs*32; 11:32434970-32434970 |
kidney | Wilms_tumour; bilateral | Deletion - Frameshift |
c.714G>A; p.W238*; 11:32417609-32417609 |
kidney | Wilms_tumour; bilateral | Substitution - Nonsense |
c.895-23_896del25; p.?; 11:32396406-32396430 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.895-1_901GGATGTGC>CAACGGG; p.?; 11:32396401-32396408 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.919_920insCC; p.T309fs*73; 11:32396382-32396383 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.869C>T; p.T290M; 11:32399973-32399973 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.869C>T; p.T290M; 11:32399973-32399973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.371_371A>TCTCGTTA; p.Q124fs*9; 11:32434771-32434771 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.934_934C>GG; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.934_934C>GG; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.934_934C>GG; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.934_934C>GG; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.934_934C>GG; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.934_934C>GG; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.962G>A; p.R321H; 11:32396340-32396340 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1239C>T; p.P413P; 11:32389169-32389169 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1046_1056del11; p.?; 11:32392745-32392757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1239C>T; p.P413P; 11:32389169-32389169 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.925_928delACTC; p.T309fs*71; 11:32396374-32396377 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.309delA; p.A104fs*114; 11:32434833-32434833 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.925_928delACTC; p.T309fs*71; 11:32396374-32396377 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.712T>A; p.W238R; 11:32417611-32417611 |
breast | carcinoma | Substitution - Missense |
c.931_932insACTCTTG; p.V311fs*8; 11:32396370-32396371 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934C>T; p.R312W; 11:32396368-32396368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.931_932insACTCTTG; p.V311fs*8; 11:32396370-32396371 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.931_932insACTCTTG; p.V311fs*8; 11:32396370-32396371 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.892C>T; p.Q298*; 11:32399950-32399950 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.924_925insGG; p.T309fs*73; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.892C>T; p.Q298*; 11:32399950-32399950 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.961C>T; p.R321C; 11:32396341-32396341 |
oesophagus | carcinoma | Substitution - Missense |
c.237C>T; p.G79G; 11:32434905-32434905 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.847G>T; p.G283*; 11:32399995-32399995 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.581_582insTACATCC; p.V195fs*32; 11:32428042-32428043 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1150C>A; p.Q384K; 11:32392050-32392050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1180C>A; p.R394R; 11:32392020-32392020 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.905_905G>CT; p.R302fs*15; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1214_1215insA; p.H405fs*4; 11:32391985-32391986 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.905_908GTGT>CCATGTGG; p.R302fs*16; 11:32396394-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.830C>T; p.T277I; 11:32400012-32400012 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1214_1215insA; p.H405fs*4; 11:32391985-32391986 |
kidney | other; nephrogenic_rest | Insertion - Frameshift |
c.1214_1215insA; p.H405fs*4; 11:32391985-32391986 |
kidney | other; nephrogenic_rest | Insertion - Frameshift |
c.830C>T; p.T277I; 11:32400012-32400012 |
pancreas | carcinoma | Substitution - Missense |
c.1214_1215insA; p.H405fs*4; 11:32391985-32391986 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.830C>T; p.T277I; 11:32400012-32400012 |
pancreas | carcinoma | Substitution - Missense |
c.484C>T; p.H162Y; 11:32428578-32428578 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.901_902insG; p.R302fs*15; 11:32396400-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.905G>A; p.R302H; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1225A>C; p.T409P; 11:32391975-32391975 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.195G>A; p.P65P; 11:32434947-32434947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.901_902insG; p.R302fs*15; 11:32396400-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.899_900insG; p.R301fs*16; 11:32396402-32396403 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.901_902insG; p.R302fs*15; 11:32396400-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.939_940insTCGG; p.A314fs*4; 11:32396362-32396363 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1075G>T; p.D359Y; 11:32392726-32392726 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.979T>C; p.Y327H; 11:32396323-32396323 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.979T>C; p.Y327H; 11:32396323-32396323 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.979T>C; p.Y327H; 11:32396323-32396323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.998G>A; p.R333K; 11:32396304-32396304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.998G>A; p.R333K; 11:32396304-32396304 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.797A>G; p.N266S; 11:32416490-32416490 |
ovary | other; neoplasm | Substitution - Missense |
c.840C>T; p.I280I; 11:32400002-32400002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.906_907insTT; p.V303fs*5; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.906_907insTT; p.V303fs*5; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.797A>G; p.N266S; 11:32416490-32416490 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.797A>G; p.N266S; 11:32416490-32416490 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.345_363del19; p.P117fs*95; 11:32434779-32434797 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.895-5_909del15; p.?; 11:32396393-32396412 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.943T>C; p.S315P; 11:32396359-32396359 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.933delA; p.R312fs*69; 11:32396369-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.933delA; p.R312fs*69; 11:32396369-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.933delA; p.R312fs*69; 11:32396369-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.923_925CGA>TGAG; p.P308fs*9; 11:32396377-32396379 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1155T>C; p.C385C; 11:32392045-32392045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.934_934C>GA; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.933delA; p.R312fs*69; 11:32396369-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.934_934C>GA; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Complex - frameshift |
c.367G>T; p.G123C; 11:32434775-32434775 |
thyroid | other; neoplasm | Substitution - Missense |
c.1155T>C; p.C385C; 11:32392045-32392045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1214A>T; p.H405L; 11:32391986-32391986 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.905_905G>TGACGATAC; p.R302fs*8; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.905_905G>TGACGATAC; p.R302fs*8; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.511T>C; p.F171L; 11:32428551-32428551 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.937_938insGTACGGT; p.S313fs*6; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.80_83delCTGT; p.P27fs*62; 11:32435059-32435062 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.900_903delGCGA; p.R301fs*5; 11:32396399-32396402 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.929_930insNNNNNNN; p.?fs; 11:32396372-32396373 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.933_934ins13; p.R312fs*9; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.905_906insGGGCCGG; p.V303fs*16; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1173_1174insA; p.F392fs*17; 11:32392026-32392027 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.901C>T; p.R301*; 11:32396401-32396401 |
pancreas | carcinoma | Substitution - Nonsense |
c.322C>T; p.R108C; 11:32434820-32434820 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.901C>T; p.R301*; 11:32396401-32396401 |
kidney | Wilms_tumour; unilateral | Substitution - Nonsense |
c.877G>C; p.V293L; 11:32399965-32399965 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.901C>T; p.R301*; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.858C>G; p.Y286*; 11:32399984-32399984 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.901C>T; p.R301*; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.901C>T; p.R301*; 11:32396401-32396401 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.901C>T; p.R301*; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.919_934del16; p.A307fs*69; 11:32396368-32396383 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.1186G>C; p.D396H; 11:32392014-32392014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.924_927delGACT; p.T309fs*71; 11:32396375-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.780G>A; p.W260*; 11:32416507-32416507 |
skin | malignant_melanoma | Substitution - Nonsense |
c.818G>A; p.S273N; 11:32400024-32400024 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.901delC; p.R301fs*6; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.1072_1073insC; p.K358fs*4; 11:32392728-32392729 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.332C>T; p.P111L; 11:32434810-32434810 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059C>G; p.Y353*; 11:32392742-32392742 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.427G>A; p.A143T; 11:32434715-32434715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.902_903GA>CGG; p.R301fs*16; 11:32396399-32396400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.902_903GA>CGG; p.R301fs*16; 11:32396399-32396400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.363A>G; p.S121S; 11:32434779-32434779 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.895-2_904del12; p.?; 11:32396398-32396409 |
kidney | Wilms_tumour; unilateral | Unknown |
c.1271A>G; p.K424R; 11:32389137-32389137 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118A>G; p.H373R; 11:32392683-32392683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1118A>G; p.H373R; 11:32392683-32392683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.924_926GAC>AGTTTTT; p.T309fs*9; 11:32396376-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1180C>T; p.R394W; 11:32392020-32392020 |
kidney | Wilms_tumour | Substitution - Missense |
c.1191C>A; p.H397Q; 11:32392009-32392009 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.900_904GCGAC>ACCAGGGGG; p.R301fs*17; 11:32396398-32396402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1180C>T; p.R394W; 11:32392020-32392020 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.1180C>T; p.R394W; 11:32392020-32392020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1180C>T; p.R394W; 11:32392020-32392020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Substitution - Missense |
c.485A>T; p.H162L; 11:32428577-32428577 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.905_906ins17; p.?fs; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1180C>T; p.R394W; 11:32392020-32392020 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.906_907insCCCC; p.V303fs*15; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1180C>T; p.R394W; 11:32392020-32392020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.1180C>T; p.R394W; 11:32392020-32392020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.989G>A; p.C330Y; 11:32396313-32396313 |
pancreas | carcinoma | Substitution - Missense |
c.1191C>A; p.H397Q; 11:32392009-32392009 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.790C>G; p.Q264E; 11:32416497-32416497 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001_1002delAT; p.Y334fs*2; 11:32396300-32396301 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.937_938insCGGT; p.A314fs*4; 11:32396364-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_937CGGT>GGGGC; p.R312fs*5; 11:32396365-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.901_902CG>ACGG; p.R301fs*7; 11:32396400-32396401 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1298_1299delGC; p.R433fs*18; 11:32389109-32389110 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.938_939insG; p.A314fs*3; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.438_439insGCGCCCA; p.Q147fs*35; 11:32434703-32434704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1298_1299delGC; p.R433fs*18; 11:32389109-32389110 |
kidney | Wilms_tumour; unilateral | Deletion - Frameshift |
c.938_939insA; p.A314fs*3; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.416_417AG>GGACTCGTC; p.E139fs*43; 11:32434725-32434726 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.934C>G; p.R312G; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.868_869insA; p.T290fs*27; 11:32399973-32399974 |
kidney | Wilms_tumour; bilateral | Insertion - Frameshift |
c.934C>G; p.R312G; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.934C>G; p.R312G; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.923_952>TGAGAGGGCCG; p.P308fs*67; 11:32396350-32396379 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.934C>G; p.R312G; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.905_908GTGT>TC; p.R302fs*14; 11:32396394-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1012T>C; p.S338P; 11:32396290-32396290 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.903_925>15; p.R302fs*12; 11:32396377-32396399 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.746+7T>C; p.?; 11:32417570-32417570 |
liver | carcinoma | Unknown |
c.746+7T>C; p.?; 11:32417570-32417570 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.820G>A; p.D274N; 11:32400022-32400022 |
skin | malignant_melanoma | Substitution - Missense |
c.566-59insA; p.?; 11:32428116-32428117 |
kidney | Wilms_tumour | Unknown |
c.932_939delTACGGTCG; p.V311fs*3; 11:32396363-32396370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1046-1G>A; p.?; 11:32392756-32392756 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.932_939delTACGGTCG; p.V311fs*3; 11:32396363-32396370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.933_934ins10; p.R312fs*8; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_934C>AA; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Complex - frameshift |
c.934_934C>AA; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1174_1175insAAGT; p.F392fs*1; 11:32392025-32392026 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_934C>AA; p.R312fs*5; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.434G>T; p.R145L; 11:32434708-32434708 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.937_939delTCG; p.S313del; 11:32396363-32396365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.590delC; p.P198fs*20; 11:32428034-32428034 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.924_925insAGG; p.P308_T309insR; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.924_925insAGG; p.P308_T309insR; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.1093delT; p.S365fs*16; 11:32392708-32392708 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.944_945ins10; p.E316fs*4; 11:32396357-32396358 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.998_999delGA; p.R333fs*3; 11:32396303-32396304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.924_925insAGG; p.P308_T309insR; 11:32396377-32396378 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.1194G>A; p.L398L; 11:32392006-32392006 |
breast | carcinoma | Substitution - coding silent |
c.934_935insAG; p.R312fs*70; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1145C>A; p.P382Q; 11:32392055-32392055 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.941_942insTCGG; p.S315fs*3; 11:32396360-32396361 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.584_585insCCGG; p.P196fs*30; 11:32428039-32428040 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.144C>G; p.Y48*; 11:32434998-32434998 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.934_934C>TAG; p.R312*; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.144C>A; p.Y48*; 11:32434998-32434998 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.656C>T; p.T219M; 11:32427968-32427968 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.976G>A; p.A326T; 11:32396326-32396326 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1095_1096insGGTTTTCT; p.R366fs*18; 11:32392705-32392706 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.556G>C; p.G186R; 11:32428506-32428506 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1097_1098ins10; p.S367fs*23; 11:32392703-32392704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1136G>T; p.G379V; 11:32392064-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.905_905G>CCC; p.R302fs*6; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.1136G>T; p.G379V; 11:32392064-32392064 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136G>T; p.G379V; 11:32392064-32392064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.905_905G>CCC; p.R302fs*6; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.898_929del32; p.V300fs*6; 11:32396373-32396404 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.320G>T; p.C107F; 11:32434822-32434822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022_1023insGCGGGCC; p.M342fs*11; 11:32396279-32396280 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.711delC; p.W238fs*4; 11:32417612-32417612 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.900_901insGG; p.R301fs*7; 11:32396401-32396402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1138G>A; p.V380M; 11:32392062-32392062 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.934_935insCCTTG; p.R312fs*71; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.363_364insA; p.S122fs*9; 11:32434778-32434779 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.904_906CGT>AGCTGGATTT; p.R302fs*17; 11:32396396-32396398 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.743A>C; p.K248T; 11:32417580-32417580 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1298G>A; p.R433H; 11:32389110-32389110 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.434_435insTATTCGC; p.N146fs*36; 11:32434707-32434708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1169_1170GA>CT; p.R390P; 11:32392030-32392031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1117C>T; p.H373Y; 11:32392684-32392684 |
kidney | Wilms_tumour | Substitution - Missense |
c.992_993insA; p.N331fs*2; 11:32396309-32396310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.935G>A; p.R312Q; 11:32396367-32396367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.901_905CGACG>15; p.R301fs*19; 11:32396397-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.935G>A; p.R312Q; 11:32396367-32396367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.885A>T; p.R295S; 11:32399957-32399957 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.935_936insCTTGTACG; p.S313fs*71; 11:32396366-32396367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1139_1217>79; p.V380_T406>27; 11:32391983-32392061 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - compound substitution |
c.933_934insCCTTG; p.R312fs*71; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.934_935ins15; p.S313*; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.900_905GCGACG>20; p.R301fs*11; 11:32396397-32396402 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.461T>C; p.F154S; 11:32428601-32428601 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.1182G>A; p.R394R; 11:32392018-32392018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.931_932ins10; p.V311fs*9; 11:32396370-32396371 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.901_902insAG; p.R301fs*7; 11:32396400-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.461T>C; p.F154S; 11:32428601-32428601 |
kidney | other; nephrogenic_rest | Substitution - Missense |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.906_907insT; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.933_934insTGGTTTG; p.R312fs*7; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1009_1010ins76; p.L337fs*5; 11:32396292-32396293 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.851C>T; p.A284V; 11:32399991-32399991 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.489G>A; p.T163T; 11:32428573-32428573 |
breast | carcinoma | Substitution - coding silent |
c.924G>T; p.P308P; 11:32396378-32396378 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.907_908insT; p.P304fs*13; 11:32396394-32396395 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.693C>A; p.S231S; 11:32417630-32417630 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.372_376delGGCCA; p.A125fs*4; 11:32434766-32434770 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.1191C>T; p.H397H; 11:32392009-32392009 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1187A>G; p.D396G; 11:32392013-32392013 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1183_1184ins16; p.D396fs*18; 11:32392016-32392017 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.206_209delACTC; p.H69fs*20; 11:32434933-32434936 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.936_937insG; p.S313fs*4; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.936_937insG; p.S313fs*4; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.933_934insA; p.R312fs*5; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.388A>T; p.N130Y; 11:32434754-32434754 |
skin | malignant_melanoma | Substitution - Missense |
c.933_934insA; p.R312fs*5; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.933_934insA; p.R312fs*5; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.443_565del123; p.?; 11:32428497-32428619 |
kidney | Wilms_tumour; unilateral | Unknown |
c.895-55_895-2del54insCA; p.?; 11:32396409-32396462 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.905_906insGACT; p.V303fs*15; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1050_1127>78; p.Y353_R376>24; 11:32392674-32392751 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - compound substitution |
c.1285G>A; p.D429N; 11:32389123-32389123 |
skin | malignant_melanoma | Substitution - Missense |
c.440delA; p.Q147fs*71; 11:32434702-32434702 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.1011_1012ins19; p.S338fs*1; 11:32396290-32396291 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.845G>A; p.C282Y; 11:32399997-32399997 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1000_1001insGAGAT; p.Y334fs*1; 11:32396301-32396302 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.938C>A; p.S313*; 11:32396364-32396364 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.933_934insG; p.R312fs*5; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Insertion - Frameshift |
c.933_934insG; p.R312fs*5; 11:32396368-32396369 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.566-20G>T; p.?; 11:32428078-32428078 |
kidney | Wilms_tumour; bilateral | Unknown |
c.668G>C; p.S223T; 11:32427956-32427956 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.37C>T; p.P13S; 11:32435105-32435105 |
liver | carcinoma | Substitution - Missense |
c.1190_1200del11; p.H397fs*8; 11:32392000-32392010 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1111A>C; p.K371Q; 11:32392690-32392690 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.37C>T; p.P13S; 11:32435105-32435105 |
liver | carcinoma | Substitution - Missense |
c.904_905insT; p.R302fs*15; 11:32396397-32396398 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.923_924insCC; p.T309fs*73; 11:32396378-32396379 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1249C>T; p.R417W; 11:32389159-32389159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
kidney | Wilms_tumour; unilateral | Substitution - Nonsense |
c.480C>A; p.Y160*; 11:32428582-32428582 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.1153T>C; p.C385R; 11:32392047-32392047 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.923_924insCC; p.T309fs*73; 11:32396378-32396379 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1168C>T; p.R390*; 11:32392032-32392032 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.901_901C>GCG; p.R301fs*7; 11:32396401-32396401 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.1168C>T; p.R390*; 11:32392032-32392032 |
oesophagus | carcinoma | Substitution - Nonsense |
c.1168C>T; p.R390*; 11:32392032-32392032 |
kidney | Wilms_tumour; unilateral | Substitution - Nonsense |
c.1349G>C; p.*450S; 11:32389059-32389059 |
urinary_tract; bladder | carcinoma | Nonstop extension |
c.925_926ins10; p.T309fs*11; 11:32396376-32396377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.992A>G; p.N331S; 11:32396310-32396310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.937_943TCGGCAT>12; p.S313fs*70; 11:32396359-32396365 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.926_935CTCTTGTACG>12; p.?fs; 11:32396367-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.925_926ins10; p.T309fs*11; 11:32396376-32396377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - Frameshift |
c.938_939insNNNNNNNN; p.?fs; 11:32396363-32396364 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.927_956>CGTAC; p.L310fs*63; 11:32396346-32396375 |
kidney | Wilms_tumour; bilateral | Complex - frameshift |
c.938_939ins13; p.A314fs*7; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insC; p.A314fs*3; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insTGCC; p.R312fs*6; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.920_932del13; p.A307fs*70; 11:32396370-32396382 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1115_1116insGA; p.H373fs*9; 11:32392685-32392686 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.712T>C; p.W238R; 11:32417611-32417611 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.938_939ins13; p.A314fs*7; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939insC; p.A314fs*3; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.714G>T; p.W238C; 11:32417609-32417609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.926_927insAAGAC; p.L310fs*73; 11:32396375-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.926_927insAAGAC; p.L310fs*73; 11:32396375-32396376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.895_1045del151; p.D299fs*32; 11:32396257-32396407 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1154G>A; p.C385Y; 11:32392046-32392046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.895_1045del151; p.D299fs*32; 11:32396257-32396407 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1154G>A; p.C385Y; 11:32392046-32392046 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.895_1045del151; p.D299fs*32; 11:32396257-32396407 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.524C>A; p.S175*; 11:32428538-32428538 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.895_1045del151; p.D299fs*32; 11:32396257-32396407 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1181G>A; p.R394Q; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.740T>C; p.L247S; 11:32417583-32417583 |
skin | malignant_melanoma | Substitution - Missense |
c.1154G>A; p.C385Y; 11:32392046-32392046 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1279C>T; p.R427W; 11:32389129-32389129 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.900_901insAAGTC; p.R301fs*8; 11:32396401-32396402 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.814G>T; p.E272*; 11:32400028-32400028 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; T_cell_large_granular_lymphocytic_leukaemia | Substitution - Nonsense |
c.1086A>G; p.R362R; 11:32392715-32392715 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.895-3C>A; p.?; 11:32396410-32396410 |
ovary | other; neoplasm | Unknown |
c.1085_1093GAAGGTTTT>AC; p.R362fs*17; 11:32392708-32392716 |
kidney | Wilms_tumour; unilateral | Complex - frameshift |
c.905_906ins28; p.V303fs*23; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.785A>C; p.E262A; 11:32416502-32416502 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.931_931delG; p.V311fs*70; 11:32396371-32396371 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.785A>C; p.E262A; 11:32416502-32416502 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.912_916TGGAG>CGG; p.V306fs*10; 11:32396386-32396390 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.313G>A; p.G105R; 11:32434829-32434829 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.931_932insGAGTCGTG; p.V311fs*73; 11:32396370-32396371 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1297C>T; p.R433C; 11:32389111-32389111 |
breast | carcinoma | Substitution - Missense |
c.1059C>A; p.Y353*; 11:32392742-32392742 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.902_903ins17; p.R302fs*11; 11:32396399-32396400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1264C>T; p.Q422*; 11:32389144-32389144 |
pancreas | carcinoma | Substitution - Nonsense |
c.1280G>C; p.R427P; 11:32389128-32389128 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.253G>A; p.E85K; 11:32434889-32434889 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>C; p.R394P; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1181G>C; p.R394P; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.905_905G>CCCCC; p.R302fs*16; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.204_206TCA>CC; p.H69fs*21; 11:32434936-32434938 |
kidney | Wilms_tumour | Complex - frameshift |
c.1181G>C; p.R394P; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1181G>C; p.R394P; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1181G>C; p.R394P; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1181G>C; p.R394P; 11:32392019-32392019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.593delC; p.P198fs*20; 11:32428031-32428031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.513C>T; p.F171F; 11:32428549-32428549 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.934_934C>GGG; p.R312fs*70; 11:32396368-32396368 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.494C>T; p.S165L; 11:32428568-32428568 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.494C>T; p.S165L; 11:32428568-32428568 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.846C>T; p.C282C; 11:32399996-32399996 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1344G>A; p.A448A; 11:32389064-32389064 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1344G>A; p.A448A; 11:32389064-32389064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1344G>A; p.A448A; 11:32389064-32389064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.935_936ins10; p.A314fs*6; 11:32396366-32396367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.935_936ins10; p.A314fs*6; 11:32396366-32396367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.936_937ins32; p.S313fs*5; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.949A>T; p.T317S; 11:32396353-32396353 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1189C>G; p.H397D; 11:32392011-32392011 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.905_906insTT; p.V303fs*5; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.549_550insTC; p.Q184fs*35; 11:32428512-32428513 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.818G>T; p.S273I; 11:32400024-32400024 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.813C>T; p.Y271Y; 11:32400029-32400029 |
large_intestine | NS | Substitution - coding silent |
c.906_907insC; p.V303fs*14; 11:32396395-32396396 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1189C>T; p.H397Y; 11:32392011-32392011 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.936_937insTGTACGG; p.S313fs*6; 11:32396365-32396366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.903_905ACG>GC; p.R302fs*5; 11:32396397-32396399 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.905_906insTTGAAAT; p.V303fs*1; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1021C>T; p.Q341*; 11:32396281-32396281 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.940_946delGCATCTG; p.A314fs*65; 11:32396356-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1021C>T; p.Q341*; 11:32396281-32396281 |
kidney | Wilms_tumour | Substitution - Nonsense |
c.667A>G; p.S223G; 11:32427957-32427957 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.905_906insTTGAAAT; p.V303fs*1; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1021C>T; p.Q341*; 11:32396281-32396281 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.483_484insCA; p.P164fs*55; 11:32428578-32428579 |
kidney | Wilms_tumour | Insertion - Frameshift |
c.1170A>G; p.R390R; 11:32392030-32392030 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1170A>G; p.R390R; 11:32392030-32392030 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902_903insG; p.R302fs*15; 11:32396399-32396400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1170A>G; p.R390R; 11:32392030-32392030 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902_903insG; p.R302fs*15; 11:32396399-32396400 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.934_935insTCTTGTAC; p.R312fs*72; 11:32396367-32396368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1296_1297insC; p.R433fs*19; 11:32389111-32389112 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.319T>C; p.C107R; 11:32434823-32434823 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.962_963insAGGG; p.P322fs*12; 11:32396339-32396340 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.905_906insGTCC; p.V303fs*15; 11:32396396-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.306C>G; p.G102G; 11:32434836-32434836 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1311_1312insC; p.H438fs*14; 11:32389096-32389097 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.1112A>G; p.K371R; 11:32392689-32392689 |
kidney | Wilms_tumour; unilateral | Substitution - Missense |
c.874G>A; p.G292S; 11:32399968-32399968 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.398_399insT; p.L134fs*46; 11:32434743-32434744 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1228+1G>A; p.?; 11:32391971-32391971 |
lung; middle_lobe | carcinoma; adenocarcinoma | Unknown |
c.895G>T; p.D299Y; 11:32396407-32396407 |
kidney | Wilms_tumour | Substitution - Missense |
c.1097G>A; p.R366H; 11:32392704-32392704 |
breast | carcinoma | Substitution - Missense |
c.903_904insG; p.R302fs*15; 11:32396398-32396399 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.898_900GTG>AACTTAC; p.V300fs*18; 11:32396402-32396404 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Complex - frameshift |
c.923_924ins13; p.T309fs*12; 11:32396378-32396379 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1097G>A; p.R366H; 11:32392704-32392704 |
pancreas | carcinoma | Substitution - Missense |
c.1097G>A; p.R366H; 11:32392704-32392704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.126_126delC; p.P43fs*47; 11:32434820-32434820 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1270A>C; p.K424Q; 11:32389138-32389138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.542_543insATCC; p.M182fs*10; 11:32428519-32428520 |
kidney | Wilms_tumour; unilateral | Insertion - Frameshift |
c.932_933delTA; p.V311fs*5; 11:32396369-32396370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.932_933delTA; p.V311fs*5; 11:32396369-32396370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.938_939ins10; p.A314fs*6; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.938_939ins10; p.A314fs*6; 11:32396363-32396364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.900_901insG; p.R301fs*16; 11:32396401-32396402 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.491C>T; p.P164L; 11:32428571-32428571 |
skin; ear | malignant_melanoma | Substitution - Missense |
c.900_901insG; p.R301fs*16; 11:32396401-32396402 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.904_905insGA; p.P304fs*4; 11:32396397-32396398 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.905delG; p.R302fs*5; 11:32396397-32396397 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1188_1189ins17; p.?fs; 11:32392011-32392012 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.940_941ins11; p.A314fs*71; 11:32396361-32396362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |