General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 2322 |
Name | FLT3 |
Synonymous | fms-related tyrosine kinase 3;FLT3;fms-related tyrosine kinase 3 |
Definition | CD135 antigen|FL cytokine receptor|fetal liver kinase 2|fms-like tyrosine kinase 3|growth factor receptor tyrosine kinase type III|receptor-type tyrosine-protein kinase FLT3|stem cell tyrosine kinase 1 |
Position | 13q12 |
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 |
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 0.06. |
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.1665T>C; p.I555I; 13:28034340-28034340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1225C>T; p.H409Y; 13:28037269-28037269 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1108T>C; p.S370P; 13:28048372-28048372 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1791_1792ins?; p.Y597_E598ins26; 13:28034127-28034128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1791_1792ins?; p.Y597_E598ins26; 13:28034127-28034128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1652G>A; p.C551Y; 13:28034353-28034353 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1641A>G; p.T547T; 13:28034364-28034364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1339G>A; p.A447T; 13:28036014-28036014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2520_2521insGGATCC; p.S840_N841insGS; 13:28018487-28018488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1795_1796ins39; p.Y599_D600ins13; 13:28034123-28034124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2028C>A; p.N676K; 13:28028203-28028203 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1327G>A; p.A443T; 13:28036026-28036026 |
breast | carcinoma | Substitution - Missense |
c.2028C>A; p.N676K; 13:28028203-28028203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2520_2521insGGATCC; p.S840_N841insGS; 13:28018487-28018488 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.?_?ins?; p.A620_F621ins39; 13:28033968-28033969 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.500C>T; p.T167I; 13:28052659-28052659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670T>C; p.V557A; 13:28034335-28034335 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670T>C; p.V557A; 13:28034335-28034335 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670T>C; p.V557A; 13:28034335-28034335 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670T>C; p.V557A; 13:28034335-28034335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670T>C; p.V557A; 13:28034335-28034335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1794_1795ins30; p.E598_Y599ins10; 13:28034124-28034125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1780_1781ins21; p.D593_F594insWGYFYVD; 13:28034138-28034139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1782_1783ins42; p.F594_R595ins14; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2411T>G; p.F804C; 13:28023357-28023357 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2726A>G; p.D909G; 13:28015184-28015184 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2797C>A; p.R933R; 13:28014514-28014514 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2648C>A; p.S883*; 13:28015595-28015595 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2749G>T; p.E917*; 13:28015161-28015161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.449_450CC>TT; p.T150I; 13:28057381-28057382 |
skin | malignant_melanoma | Substitution - Missense |
c.610G>T; p.E204*; 13:28052549-28052549 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1841A>G; p.K614R; 13:28033988-28033988 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1841A>T; p.K614M; 13:28033988-28033988 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.215C>T; p.S72L; 13:28062020-28062020 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1811_1812ins18; p.E604_F605insYDLKWE; 13:28034107-28034108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2050T>C; p.S684P; 13:28028181-28028181 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.237C>T; p.A79A; 13:28061998-28061998 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.1879G>A; p.A627T; 13:28033950-28033950 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.971_982del12; p.G326_T329delGYYT; 13:28049438-28049449 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Deletion - In frame |
c.1879G>A; p.A627T; 13:28033950-28033950 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1879G>A; p.A627T; 13:28033950-28033950 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1799_1800ins51; p.D600_L601ins17; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1879G>A; p.A627T; 13:28033950-28033950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2525A>G; p.Y842C; 13:28018483-28018483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2525A>G; p.Y842C; 13:28018483-28018483 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2525A>G; p.Y842C; 13:28018483-28018483 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.192G>C; p.G64G; 13:28062043-28062043 |
lung | carcinoma; large_cell_carcinoma | Substitution - coding silent |
c.192G>C; p.G64G; 13:28062043-28062043 |
lung | carcinoma; large_cell_carcinoma | Substitution - coding silent |
c.1635T>C; p.Y545Y; 13:28034370-28034370 |
liver | carcinoma | Substitution - coding silent |
c.1635T>C; p.Y545Y; 13:28034370-28034370 |
liver | carcinoma | Substitution - coding silent |
c.2654_2753del100; p.G885fs*4; 13:28015157-28015256 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_eosinophilic_leukaemia-hypereosinophilic_syndrome | Deletion - Frameshift |
c.1794_1795ins66; p.E598_Y599ins22; 13:28034124-28034125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2971G>A; p.E991K; 13:28004063-28004063 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2971G>A; p.E991K; 13:28004063-28004063 |
skin | malignant_melanoma | Substitution - Missense |
c.1761_1762ins114; p.N587_E588ins30; 13:28034157-28034158 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.1935G>A; p.M645I; 13:28033894-28033894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2508C>A; p.I836I; 13:28018500-28018500 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2508C>A; p.I836I; 13:28018500-28018500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2917C>T; p.R973*; 13:28004117-28004117 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2158G>A; p.E720K; 13:28027137-28027137 |
skin | malignant_melanoma | Substitution - Missense |
c.1669G>A; p.V557I; 13:28034336-28034336 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.728_729GG>TT; p.R243I; 13:28050108-28050109 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2967G>T; p.Q989H; 13:28004067-28004067 |
breast | carcinoma | Substitution - Missense |
c.1747G>A; p.G583S; 13:28034172-28034172 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.576G>T; p.P192P; 13:28052583-28052583 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1747G>A; p.G583S; 13:28034172-28034172 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1781_1798>12; p.F594_D600>SPPPH; 13:28034121-28034138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.2789C>G; p.S930*; 13:28014522-28014522 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1879_1880ins113; p.A627fs*22; 13:28033949-28033950 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.826C>T; p.H276Y; 13:28049691-28049691 |
skin | malignant_melanoma | Substitution - Missense |
c.1508T>A; p.M503K; 13:28035584-28035584 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1792_1793ins48; p.Y597_E598ins16; 13:28034126-28034127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>G; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1809_1810ins21; p.W603_E604insYEYDLKW; 13:28034109-28034110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1758T>G; p.D586E; 13:28034161-28034161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1773_1774ins57; p.L610_E611ins19; 13:28034145-28034146 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1799_1800ins24; p.Y599_D600insEYEYEYEY; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Deletion - In frame |
c.1799_1800ins24; p.Y599_D600insEYEYEYEY; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.143G>A; p.G48E; 13:28070513-28070513 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2944G>A; p.G982R; 13:28004090-28004090 |
genital_tract; extragonadal | germ_cell_tumour; mixed | Substitution - Missense |
c.1799_1800ins24; p.Y599_D600insEYEYEYEY; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.424C>A; p.L142I; 13:28057407-28057407 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1799_1800ins24; p.Y599_D600insEYEYEYEY; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.2506_2508delATC; p.I836delI; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Deletion - In frame |
c.876C>T; p.L292L; 13:28049641-28049641 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2005G>A; p.G669R; 13:28028226-28028226 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1794_1795ins42; p.E598_Y599ins14; 13:28034124-28034125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1781_1799>13; p.F594_D600>SPPPH; 13:28034120-28034138 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1797_1798ins24; p.Y599_D600insR*; 13:28034121-28034122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2523C>A; p.N841K; 13:28018485-28018485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2523C>A; p.N841K; 13:28018485-28018485 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934_1935ins168; p.M645_L646ins56; 13:28033894-28033895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2542G>C; p.A848P; 13:28015701-28015701 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1548A>G; p.A516A; 13:28035544-28035544 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1943-2A>T; p.?; 13:28028290-28028290 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2507_2509delTCA; p.I836delI; 13:28018499-28018501 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.1600C>T; p.P534S; 13:28034405-28034405 |
skin | malignant_melanoma | Substitution - Missense |
c.2538C>T; p.G846G; 13:28018470-28018470 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2507_2509delTCA; p.I836delI; 13:28018499-28018501 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.2034_2035ins15; p.L678_G679insIVKLL; 13:28028196-28028197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.582G>A; p.V194V; 13:28052577-28052577 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2504A>G; p.D835G; 13:28018504-28018504 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111G>C; p.V371L; 13:28048369-28048369 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2507_2509delTCA; p.I836delI; 13:28018499-28018501 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.1458G>A; p.K486K; 13:28035634-28035634 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.523A>T; p.K175*; 13:28052636-28052636 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2298T>G; p.I766M; 13:28023470-28023470 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1768_1773TTCTAC>GGGGAC; p.F590_Y591>GD; 13:28034146-28034151 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - compound substitution |
c.1779_1780ins48; p.D593_F594ins16; 13:28034139-28034140 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.489C>T; p.T163T; 13:28052670-28052670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1034T>C; p.V345A; 13:28049386-28049386 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.2504A>C; p.D835A; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.85G>C; p.D29H; 13:28070571-28070571 |
skin | malignant_melanoma | Substitution - Missense |
c.?_?ins?; p.602_603>20; 13:28034112-28034113 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.92C>T; p.P31L; 13:28070564-28070564 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1800_1801ins60; p.D600_L601ins20; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2891A>C; p.E964A; 13:28004143-28004143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1775T>C; p.V592A; 13:28034144-28034144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>C; p.D835A; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.92C>T; p.P31L; 13:28070564-28070564 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.273G>A; p.L91L; 13:28061962-28061962 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.391T>G; p.L131V; 13:28057440-28057440 |
skin | malignant_melanoma | Substitution - Missense |
c.20A>G; p.D7G; 13:28100491-28100491 |
thyroid | other; neoplasm | Substitution - Missense |
c.2504A>C; p.D835A; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2672G>A; p.G891D; 13:28015238-28015238 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.286G>A; p.D96N; 13:28061949-28061949 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1715A>G; p.Y572C; 13:28034204-28034204 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1715A>G; p.Y572C; 13:28034204-28034204 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.1715A>G; p.Y572C; 13:28034204-28034204 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1802T>C; p.L601P; 13:28034117-28034117 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845G>A; p.D949N; 13:28014466-28014466 |
skin | malignant_melanoma | Substitution - Missense |
c.1805_1806ins33; p.L601_K602ins11; 13:28034113-28034114 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1615C>A; p.Q539K; 13:28034390-28034390 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.521G>A; p.R174K; 13:28052638-28052638 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1866_1867ins63; p.K623_V624ins21; 13:28033962-28033963 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2209A>G; p.M737V; 13:28024942-28024942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1794_1795ins75; p.E598_Y599ins25; 13:28034124-28034125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2928C>A; p.S976R; 13:28004106-28004106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.932G>A; p.R311Q; 13:28049488-28049488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2209A>G; p.M737V; 13:28024942-28024942 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.540C>T; p.D180D; 13:28052619-28052619 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2515G>C; p.D839H; 13:28018493-28018493 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1755_1756ins42; p.D600_L601ins14; 13:28034163-28034164 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1776T>C; p.V592V; 13:28034143-28034143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2079C>T; p.Y693Y; 13:28027216-28027216 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2161C>A; p.H721N; 13:28027134-28027134 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1829_1830ins192; p.L610_E611ins64; 13:28034089-28034090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1828_1829ins57; p.N609_L610ins19; 13:28034090-28034091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1881A>G; p.A627A; 13:28033948-28033948 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2546G>A; p.R849H; 13:28015697-28015697 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.979T>C; p.Y327H; 13:28049441-28049441 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2456T>C; p.V819A; 13:28018552-28018552 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1824_1825ins69; p.E608_N609ins23; 13:28034094-28034095 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2524T>C; p.Y842H; 13:28018484-28018484 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1771_1773delTAC; p.Y591delY; 13:28034146-28034148 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1987A>C; p.K663Q; 13:28028244-28028244 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.427C>A; p.L143I; 13:28057404-28057404 |
breast | carcinoma | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.?_?ins?; p.612_613>33; 13:28034082-28034083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - insertion inframe |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1769_1770ins24; p.Y597_E598insDYVDFREY; 13:28034149-28034150 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>T; p.D835Y; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1804_1805ins24; p.L601_K602insIREYEYDL; 13:28034114-28034115 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2507T>G; p.I836S; 13:28018501-28018501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1859_1860ins105; p.A620_F621ins35; 13:28033969-28033970 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2316A>T; p.K772N; 13:28023452-28023452 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2316A>T; p.K772N; 13:28023452-28023452 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1727T>A; p.L576Q; 13:28034192-28034192 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1775T>G; p.V592G; 13:28034144-28034144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2822C>T; p.S941L; 13:28014489-28014489 |
skin | malignant_melanoma | Substitution - Missense |
c.2506_2508ATC>TTT; p.I836F; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2506_2508ATC>TTT; p.I836F; 13:28018500-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1096G>T; p.E366*; 13:28048384-28048384 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2039C>T; p.A680V; 13:28028192-28028192 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1775_1776ins21; p.D600_L601insFREYEYD; 13:28034143-28034144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2039C>T; p.A680V; 13:28028192-28028192 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.541G>A; p.A181T; 13:28052618-28052618 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2039C>T; p.A680V; 13:28028192-28028192 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.2039C>T; p.A680V; 13:28028192-28028192 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.121A>T; p.K41*; 13:28070535-28070535 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2521A>C; p.N841H; 13:28018487-28018487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1518C>T; p.A506A; 13:28035574-28035574 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.856G>T; p.E286*; 13:28049661-28049661 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2291-2A>G; p.?; 13:28023479-28023479 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1823_1824ins75; p.E608_N609ins25; 13:28034095-28034096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.869A>C; p.K290T; 13:28049648-28049648 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1523A>G; p.K508R; 13:28035569-28035569 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2073T>G; p.F691L; 13:28027222-28027222 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2073T>G; p.F691L; 13:28027222-28027222 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2073T>G; p.F691L; 13:28027222-28027222 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2222G>T; p.R741I; 13:28024929-28024929 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2502A>G; p.R834R; 13:28018506-28018506 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1805_1806ins54; p.L601_K602ins18; 13:28034113-28034114 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2440G>A; p.A814T; 13:28018568-28018568 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1811_1812ins39; p.W603_E604ins13; 13:28034107-28034108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1765delT; p.Y589fs*22; 13:28034154-28034154 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1795_1796ins21; p.E598_Y599insFDFREYE; 13:28034123-28034124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2092G>T; p.D698Y; 13:28027203-28027203 |
ovary | other; neoplasm | Substitution - Missense |
c.1800_1801ins42; p.D600_L601ins14; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1788_1789ins36; p.E596_Y597ins12; 13:28034130-28034131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.239C>T; p.A80V; 13:28061996-28061996 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1817_1818ins24; p.P606_R607insYDLKWEFP; 13:28034101-28034102 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1788_1789ins36; p.E596_Y597ins12; 13:28034130-28034131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1817_1818ins45; p.P606_R607ins15; 13:28034101-28034102 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - In frame |
c.1817_1818ins36; p.P606_R607ins12; 13:28034101-28034102 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.1778_1779ins60; p.V592_D593ins20; 13:28034140-28034141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - In frame |
c.1739_1740ins66; p.Q580_V581ins*; 13:28034179-28034180 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1793_1794ins33; p.Y597_E598ins11; 13:28034125-28034126 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1793_1794ins33; p.Y597_E598ins11; 13:28034125-28034126 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1878C>T; p.N626N; 13:28033951-28033951 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.166G>A; p.V56I; 13:28062069-28062069 |
skin | malignant_melanoma | Substitution - Missense |
c.1800_1801ins84; p.D600_L601ins28; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1363G>A; p.D455N; 13:28035990-28035990 |
skin | malignant_melanoma | Substitution - Missense |
c.743-8T>C; p.?; 13:28049782-28049782 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.1837+4_1837+5ins36; p.?; 13:28034077-28034078 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Unknown |
c.1813_1814ins69; p.E604_F605ins23; 13:28034105-28034106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1837+4_1837+5ins36; p.?; 13:28034077-28034078 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.590T>C; p.V197A; 13:28052569-28052569 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1799_1800ins78; p.Y599_D600ins26; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1473G>T; p.V491V; 13:28035619-28035619 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1218T>C; p.F406F; 13:28037276-28037276 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1909G>A; p.V637I; 13:28033920-28033920 |
skin | malignant_melanoma | Substitution - Missense |
c.1788_1789ins33; p.E596_Y597ins11; 13:28034130-28034131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1854A>G; p.S618S; 13:28033975-28033975 |
skin | malignant_melanoma | Substitution - coding silent |
c.1842G>T; p.K614N; 13:28033987-28033987 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1842G>T; p.K614N; 13:28033987-28033987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807_1808ins18; p.K602_W603insYEYDLK; 13:28034111-28034112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2662C>T; p.P888S; 13:28015248-28015248 |
skin | malignant_melanoma | Substitution - Missense |
c.312C>T; p.L104L; 13:28061923-28061923 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1790_1791ins27; p.F605_P606insGEYDLKWEF; 13:28034128-28034129 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.110T>C; p.L37S; 13:28070546-28070546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1826_1827ins57; p.E608_N609ins19; 13:28034092-28034093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1817_1818ins30; p.P606_R607ins10; 13:28034101-28034102 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1853_1854ins63; p.S618_G619ins21; 13:28033975-28033976 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1828_1829ins30; p.N609_L610ins10; 13:28034090-28034091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2503_2504GA>TT; p.D835F; 13:28018504-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503_2504GA>TT; p.D835F; 13:28018504-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503_2504GA>TT; p.D835F; 13:28018504-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1078G>A; p.E360K; 13:28048402-28048402 |
skin | malignant_melanoma | Substitution - Missense |
c.1837_1837+1ins45; p.F612_G613ins15; 13:28034081-28034082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2503_2504GA>TT; p.D835F; 13:28018504-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1782_1783ins30; p.F594_R595ins10; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1782_1783ins30; p.F594_R595ins10; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1798_1799ins45; p.Y599_D600ins15; 13:28034120-28034121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1782_1783ins30; p.F594_R595ins10; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Insertion - In frame |
c.1730A>C; p.Q577P; 13:28034189-28034189 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1782_1783ins30; p.F594_R595ins10; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1798_1799ins45; p.Y599_D600ins15; 13:28034120-28034121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - In frame |
c.2503_2505delGAT; p.D835delD; 13:28018503-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.218_219GG>AA; p.G73E; 13:28062016-28062017 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2882G>C; p.R961P; 13:28004152-28004152 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2198C>A; p.P733Q; 13:28027097-28027097 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988A>G; p.K663R; 13:28028243-28028243 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1803_1804ins72; p.L601_K602ins24; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1780T>A; p.F594I; 13:28034139-28034139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2340G>A; p.L780L; 13:28023428-28023428 |
skin | malignant_melanoma | Substitution - coding silent |
c.1780T>A; p.F594I; 13:28034139-28034139 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1311G>A; p.R437R; 13:28036042-28036042 |
skin | malignant_melanoma | Substitution - coding silent |
c.1481A>T; p.Q494L; 13:28035611-28035611 |
liver | carcinoma | Substitution - Missense |
c.1398G>A; p.K466K; 13:28035955-28035955 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1306A>G; p.R436G; 13:28037188-28037188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559G>C; p.E187Q; 13:28052600-28052600 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1311G>A; p.R437R; 13:28036042-28036042 |
skin | malignant_melanoma | Substitution - coding silent |
c.1481A>T; p.Q494L; 13:28035611-28035611 |
liver | carcinoma | Substitution - Missense |
c.1545T>C; p.C515C; 13:28035547-28035547 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1815_1816ins18; p.F605_P606insDLKWEF; 13:28034103-28034104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2248G>T; p.D750Y; 13:28024903-28024903 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1804_1805ins21; p.L601_K602insREYEYDL; 13:28034114-28034115 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1986C>T; p.L662L; 13:28028245-28028245 |
breast | carcinoma | Substitution - coding silent |
c.1770_1771ins33; p.F590_Y591insFQRI*; 13:28034148-28034149 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2002C>T; p.L668L; 13:28028229-28028229 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1834_1835ins69; p.E611_F612ins23; 13:28034084-28034085 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.598G>C; p.D200H; 13:28052561-28052561 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.499A>G; p.T167A; 13:28052660-28052660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1705-1G>T; p.?; 13:28034215-28034215 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.499A>G; p.T167A; 13:28052660-28052660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.499A>G; p.T167A; 13:28052660-28052660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.499A>G; p.T167A; 13:28052660-28052660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.499A>G; p.T167A; 13:28052660-28052660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.871G>C; p.A291P; 13:28049646-28049646 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.702A>G; p.R234R; 13:28050135-28050135 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1471G>C; p.V491L; 13:28035621-28035621 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1471G>C; p.V491L; 13:28035621-28035621 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2623G>A; p.G875R; 13:28015620-28015620 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1770_1782>A; p.F590_F594>L; 13:28034137-28034149 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Complex - deletion inframe |
c.1833_1834ins75; p.E611_F612ins25; 13:28034085-28034086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2003T>C; p.L668P; 13:28028228-28028228 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1833_1834ins75; p.E611_F612ins25; 13:28034085-28034086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2522A>G; p.N841S; 13:28018486-28018486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2504_2506delATA; p.D835_I836>V; 13:28018502-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.1791_1792ins54; p.Y597_E598ins18; 13:28034127-28034128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2137A>G; p.T713A; 13:28027158-28027158 |
skin | malignant_melanoma | Substitution - Missense |
c.1775_1776insTGG; p.V592_D593insG; 13:28034143-28034144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1732_1734ATG>18; p.M578>NLRNPP; 13:28034185-28034187 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Complex - insertion inframe |
c.1766delA; p.Y589fs*22; 13:28034153-28034153 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1351T>C; p.S451P; 13:28036002-28036002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.9G>A; p.A3A; 13:28100502-28100502 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.2508_2510delCAT; p.I836delI; 13:28018498-28018500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2508_2510delCAT; p.I836delI; 13:28018498-28018500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.2508_2510delCAT; p.I836delI; 13:28018498-28018500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.1814_1815ins69; p.F605_P606ins23; 13:28034104-28034105 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1683A>G; p.L561L; 13:28034322-28034322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.1192G>A; p.D398N; 13:28048288-28048288 |
skin | malignant_melanoma | Substitution - Missense |
c.331T>G; p.S111A; 13:28061904-28061904 |
skin | malignant_melanoma | Substitution - Missense |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2638G>A; p.E880K; 13:28015605-28015605 |
skin | malignant_melanoma | Substitution - Missense |
c.1683A>G; p.L561L; 13:28034322-28034322 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.1789T>A; p.Y597N; 13:28034130-28034130 |
skin | malignant_melanoma | Substitution - Missense |
c.1683A>G; p.L561L; 13:28034322-28034322 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2638G>A; p.E880K; 13:28015605-28015605 |
skin | malignant_melanoma | Substitution - Missense |
c.1989G>C; p.K663N; 13:28028242-28028242 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Missense |
c.1556C>A; p.S519Y; 13:28035536-28035536 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1285A>G; p.K429E; 13:28037209-28037209 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2146G>C; p.E716Q; 13:28027149-28027149 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1639A>G; p.T547A; 13:28034366-28034366 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.2753+2T>G; p.?; 13:28015155-28015155 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1115G>C; p.R372T; 13:28048365-28048365 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1774G>A; p.V592I; 13:28034145-28034145 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1803_1804ins81; p.L601_K602ins27; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1803_1804ins81; p.L601_K602ins27; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1803_1804ins81; p.L601_K602ins27; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.212_213GC>TA; p.S71I; 13:28062022-28062023 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1803_1804ins81; p.L601_K602ins27; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1770C>G; p.F590L; 13:28034149-28034149 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2504A>T; p.D835V; 13:28018504-28018504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1803_1804ins63; p.L601_K602ins21; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2509_2510AT>CC; p.M837P; 13:28018498-28018499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2509_2510AT>CC; p.M837P; 13:28018498-28018499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1831_1832ins60; p.L610_E611ins20; 13:28034087-28034088 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1850G>A; p.G617E; 13:28033979-28033979 |
skin | malignant_melanoma | Substitution - Missense |
c.2956C>T; p.P986S; 13:28004078-28004078 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1850G>A; p.G617E; 13:28033979-28033979 |
skin | malignant_melanoma | Substitution - Missense |
c.2509A>C; p.M837L; 13:28018499-28018499 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2418G>A; p.S806S; 13:28023350-28023350 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2501G>A; p.R834Q; 13:28018507-28018507 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2501G>A; p.R834Q; 13:28018507-28018507 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1796_1797ins21; p.Y599>*; 13:28034122-28034123 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1801_1802ins30; p.D600_L601ins10; 13:28034117-28034118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2501G>A; p.R834Q; 13:28018507-28018507 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1352C>T; p.S451F; 13:28036001-28036001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.659T>G; p.V220G; 13:28050178-28050178 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1801_1802ins42; p.D600_L601ins14; 13:28034117-28034118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1352C>T; p.S451F; 13:28036001-28036001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1310G>A; p.R437K; 13:28036043-28036043 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1352C>T; p.S451F; 13:28036001-28036001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2858C>T; p.A953V; 13:28014453-28014453 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1825_1826ins66; p.E608_N609insI*; 13:28034093-28034094 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.1361C>T; p.S454L; 13:28035992-28035992 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.659T>G; p.V220G; 13:28050178-28050178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2506_2507AT>TTGGA; p.I836>LD; 13:28018501-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - insertion inframe |
c.1310G>A; p.R437K; 13:28036043-28036043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2858C>T; p.A953V; 13:28014453-28014453 |
ovary | other; neoplasm | Substitution - Missense |
c.1361C>T; p.S454L; 13:28035992-28035992 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1716_1717ins96; p.Y599_D600ins32; 13:28034202-28034203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1155C>T; p.F385F; 13:28048325-28048325 |
liver | carcinoma | Substitution - coding silent |
c.1811_1812ins30; p.W603_E604ins10; 13:28034107-28034108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2007A>T; p.G669G; 13:28028224-28028224 |
skin | malignant_melanoma | Substitution - coding silent |
c.1811_1812ins30; p.W603_E604ins10; 13:28034107-28034108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1155C>T; p.F385F; 13:28048325-28048325 |
liver | carcinoma | Substitution - coding silent |
c.2492G>A; p.G831E; 13:28018516-28018516 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2492G>A; p.G831E; 13:28018516-28018516 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2492G>A; p.G831E; 13:28018516-28018516 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.877G>A; p.E293K; 13:28049640-28049640 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1812_1813ins30; p.E604_F605ins10; 13:28034106-28034107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2799G>A; p.R933R; 13:28014512-28014512 |
breast | carcinoma | Substitution - coding silent |
c.196G>A; p.A66T; 13:28062039-28062039 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.196G>A; p.A66T; 13:28062039-28062039 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2306A>G; p.E769G; 13:28023462-28023462 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2040G>A; p.A680A; 13:28028191-28028191 |
pancreas | carcinoma | Substitution - coding silent |
c.1770_1771ins18; p.F590_Y591ins*; 13:28034148-28034149 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.93T>C; p.P31P; 13:28070563-28070563 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1836_1837ins75; p.F612_G613ins25; 13:28034082-28034083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2146G>A; p.E716K; 13:28027149-28027149 |
skin | malignant_melanoma | Substitution - Missense |
c.2503G>A; p.D835N; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1098G>T; p.E366D; 13:28048382-28048382 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2500_2505delCGAGAT; p.R834_D835delRD; 13:28018503-28018508 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2340G>C; p.L780F; 13:28023428-28023428 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2503G>A; p.D835N; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1215G>A; p.K405K; 13:28037279-28037279 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2503G>A; p.D835N; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>A; p.D835N; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>A; p.D835N; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>A; p.D835N; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.970G>A; p.D324N; 13:28049450-28049450 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.970G>A; p.D324N; 13:28049450-28049450 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2565G>T; p.M855I; 13:28015678-28015678 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1830_1831ins75; p.L610_E611ins25; 13:28034088-28034089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2444G>A; p.R815K; 13:28018564-28018564 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1073A>T; p.D358V; 13:28048407-28048407 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2955_2956delTC; p.P986fs*>8; 13:28004078-28004079 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2955_2956delTC; p.P986fs*>8; 13:28004078-28004079 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.?_?ins?; p.E604_F605ins15; 13:28034106-28034107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2008_2009insA; p.S670fs*23; 13:28028222-28028223 |
liver | carcinoma | Insertion - Frameshift |
c.2955_2956delTC; p.P986fs*>8; 13:28004078-28004079 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2955_2956delTC; p.P986fs*>8; 13:28004078-28004079 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2840T>C; p.L947P; 13:28014471-28014471 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2955_2956delTC; p.P986fs*>8; 13:28004078-28004079 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1811_1812ins42; p.W603_E604ins14; 13:28034107-28034108 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.915A>G; p.T305T; 13:28049505-28049505 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1769_1770ins63; p.L610_E611ins21; 13:28034149-28034150 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2857G>A; p.A953T; 13:28014454-28014454 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1243G>T; p.E415*; 13:28037251-28037251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.276_277insA; p.V93fs*16; 13:28061958-28061959 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.1801_1802ins72; p.D600_L601ins24; 13:28034117-28034118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1367G>A; p.G456E; 13:28035986-28035986 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1838_1839ins69; p.G613_K614ins23; 13:28033990-28033991 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1830_1831ins51; p.L610_E611ins17; 13:28034088-28034089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2362C>A; p.L788I; 13:28023406-28023406 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1793_1794ins63; p.E598_Y599ins21; 13:28034125-28034126 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1243G>A; p.E415K; 13:28037251-28037251 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1243G>A; p.E415K; 13:28037251-28037251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2034_2035ins15; p.L678_G679insIVNLL; 13:28028196-28028197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1794_1795ins?; p.E598_Y599insFYVDFREYE; 13:28034124-28034125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1798_1799ins27; p.D600_L601insVDFREYEYD; 13:28034120-28034121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2208-2A>G; p.?; 13:28024945-28024945 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2714G>T; p.G905V; 13:28015196-28015196 |
skin | malignant_melanoma | Substitution - Missense |
c.1160G>A; p.R387Q; 13:28048320-28048320 |
skin | malignant_melanoma | Substitution - Missense |
c.149C>T; p.S50L; 13:28070507-28070507 |
skin | malignant_melanoma | Substitution - Missense |
c.1160G>A; p.R387Q; 13:28048320-28048320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1844T>C; p.V615A; 13:28033985-28033985 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1160G>A; p.R387Q; 13:28048320-28048320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1763A>T; p.E588V; 13:28034156-28034156 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1788_1789ins36; p.E596_Y597ins12; 13:28034130-28034131 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1797_1798ins57; p.Y599_D600ins19; 13:28034121-28034122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2172T>A; p.S724R; 13:28027123-28027123 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1797_1798ins57; p.Y599_D600ins19; 13:28034121-28034122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1797_1798ins57; p.Y599_D600ins19; 13:28034121-28034122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2516A>G; p.D839G; 13:28018492-28018492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2516A>G; p.D839G; 13:28018492-28018492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; granulocytic_sarcoma | Substitution - Missense |
c.1721_1722insCCGGGAGCC; p.S574_Q575insREP; 13:28034197-28034198 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.2516A>G; p.D839G; 13:28018492-28018492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2516A>G; p.D839G; 13:28018492-28018492 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2516A>G; p.D839G; 13:28018492-28018492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1964G>A; p.R655K; 13:28028267-28028267 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.2282A>C; p.H761P; 13:28024869-28024869 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2211G>C; p.M737I; 13:28024940-28024940 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2038delG; p.A680fs*10; 13:28028193-28028193 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2211G>C; p.M737I; 13:28024940-28024940 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1776_1777ins36; p.D600_L601ins12; 13:28034142-28034143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.711G>T; p.L237L; 13:28050126-28050126 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2010C>G; p.S670R; 13:28028221-28028221 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2367T>C; p.L789L; 13:28023401-28023401 |
skin | malignant_melanoma | Substitution - coding silent |
c.1799_1800ins36; p.Y599_D600ins12; 13:28034119-28034120 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1171C>T; p.P391S; 13:28048309-28048309 |
skin | malignant_melanoma | Substitution - Missense |
c.2505T>A; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2505T>A; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.190G>A; p.G64R; 13:28062045-28062045 |
pancreas | carcinoma | Substitution - Missense |
c.1782_1783ins36; p.F594_R595ins12; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2508C>G; p.I836M; 13:28018500-28018500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Missense |
c.418G>T; p.E140*; 13:28057413-28057413 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2505T>A; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2508C>G; p.I836M; 13:28018500-28018500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1800_1801ins21; p.D600_L601insFREYEYD; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage_associated_with_MDS | Insertion - In frame |
c.2505T>A; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2508C>G; p.I836M; 13:28018500-28018500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2508C>G; p.I836M; 13:28018500-28018500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2505T>A; p.D835E; 13:28018503-28018503 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2508C>G; p.I836M; 13:28018500-28018500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1370A>G; p.Y457C; 13:28035983-28035983 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1785_1786ins39; p.R595_E596ins13; 13:28034133-28034134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.631C>T; p.P211S; 13:28050206-28050206 |
skin | malignant_melanoma | Substitution - Missense |
c.2753+2T>C; p.?; 13:28015155-28015155 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2957C>A; p.P986Q; 13:28004077-28004077 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1724A>C; p.Q575P; 13:28034195-28034195 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.366C>G; p.N122K; 13:28061869-28061869 |
skin | malignant_melanoma | Substitution - Missense |
c.1681C>A; p.L561I; 13:28034324-28034324 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.928A>G; p.I310V; 13:28049492-28049492 |
liver | carcinoma | Substitution - Missense |
c.1838G>A; p.G613E; 13:28033991-28033991 |
skin | malignant_melanoma | Substitution - Missense |
c.1159C>T; p.R387*; 13:28048321-28048321 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2668C>T; p.P890S; 13:28015242-28015242 |
prostate | carcinoma | Substitution - Missense |
c.1362G>T; p.S454S; 13:28035991-28035991 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1879_1880ins93; p.N626_A627ins31; 13:28033949-28033950 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2159A>T; p.E720V; 13:28027136-28027136 |
skin | malignant_melanoma | Substitution - Missense |
c.1414C>T; p.P472S; 13:28035939-28035939 |
liver | carcinoma | Substitution - Missense |
c.1414C>T; p.P472S; 13:28035939-28035939 |
liver | carcinoma | Substitution - Missense |
c.2817G>T; p.L939F; 13:28014494-28014494 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2528T>C; p.V843A; 13:28018480-28018480 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2793G>A; p.R931R; 13:28014518-28014518 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1827_1828ins57; p.N609_L610ins19; 13:28034091-28034092 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2793G>A; p.R931R; 13:28014518-28014518 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1414C>T; p.P472S; 13:28035939-28035939 |
liver | carcinoma | Substitution - Missense |
c.1581C>T; p.I527I; 13:28035511-28035511 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1517C>T; p.A506V; 13:28035575-28035575 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.686T>A; p.I229K; 13:28050151-28050151 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1581C>T; p.I527I; 13:28035511-28035511 |
skin | malignant_melanoma | Substitution - coding silent |
c.2491G>A; p.G831R; 13:28018517-28018517 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2669C>T; p.P890L; 13:28015241-28015241 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1792_1793ins24; p.E598>DMISPEDMK; 13:28034126-28034127 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Complex - insertion inframe |
c.1881A>T; p.A627A; 13:28033948-28033948 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2623_2624GG>AA; p.G875K; 13:28015619-28015620 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1936C>T; p.L646L; 13:28033893-28033893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2029C>T; p.L677L; 13:28028202-28028202 |
NS | NS | Substitution - coding silent |
c.1777_1779delGAT; p.D593delD; 13:28034140-28034142 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - In frame |
c.423C>A; p.Y141*; 13:28057408-28057408 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.198G>A; p.A66A; 13:28062037-28062037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1310-3T>C; p.?; 13:28036046-28036046 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.198G>A; p.A66A; 13:28062037-28062037 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.346C>T; p.P116S; 13:28061889-28061889 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1741_1742ins57; p.E598_Y599ins19; 13:28034177-28034178 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2678C>T; p.P893L; 13:28015232-28015232 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.?_?ins?; p.G613_K614ins33; 13:28033989-28033990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1785A>G; p.R595R; 13:28034134-28034134 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2506A>C; p.I836L; 13:28018502-28018502 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.285C>T; p.V95V; 13:28061950-28061950 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2838G>T; p.Q946H; 13:28014473-28014473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.380C>T; p.S127F; 13:28057451-28057451 |
skin | malignant_melanoma | Substitution - Missense |
c.?_?ins?; p.F612_G613ins20; 13:28034082-28034083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1552A>G; p.N518D; 13:28035540-28035540 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1815_1816ins66; p.F605_P606ins22; 13:28034103-28034104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1836_1837ins48; p.F612_G613ins16; 13:28034082-28034083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.622G>C; p.E208Q; 13:28050215-28050215 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2498C>A; p.A833D; 13:28018510-28018510 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.580G>A; p.V194M; 13:28052579-28052579 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1217T>G; p.F406C; 13:28037277-28037277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.580G>A; p.V194M; 13:28052579-28052579 |
stomach | carcinoma | Substitution - Missense |
c.580G>A; p.V194M; 13:28052579-28052579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1202A>G; p.Y401C; 13:28048278-28048278 |
breast | carcinoma | Substitution - Missense |
c.1736T>C; p.V579A; 13:28034183-28034183 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2683G>T; p.D895Y; 13:28015227-28015227 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1787_1788ins30; p.R595_E596ins10; 13:28034131-28034132 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1807_1808ins18; p.K602_W603insYEYDLK; 13:28034111-28034112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.?_?ins?; p.F594_R595ins12; 13:28034136-28034137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1762G>A; p.E588K; 13:28034157-28034157 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1807_1808ins18; p.K602_W603insYEYDLK; 13:28034111-28034112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - In frame |
c.393G>A; p.L131L; 13:28057438-28057438 |
skin | malignant_melanoma | Substitution - coding silent |
c.526A>G; p.M176V; 13:28052633-28052633 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2440G>T; p.A814S; 13:28018568-28018568 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1787_1788ins21; p.R595_E596insDFYVDFR; 13:28034131-28034132 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - In frame |
c.1090T>C; p.Y364H; 13:28048390-28048390 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2890G>A; p.E964K; 13:28004144-28004144 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.2683G>A; p.D895N; 13:28015227-28015227 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.197C>A; p.A66E; 13:28062038-28062038 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1795_1796ins51; p.E598_Y599ins17; 13:28034123-28034124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1796A>T; p.Y599F; 13:28034123-28034123 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.393G>C; p.L131F; 13:28057438-28057438 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1875G>A; p.M625I; 13:28033954-28033954 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1796A>T; p.Y599F; 13:28034123-28034123 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1853C>T; p.S618L; 13:28033976-28033976 |
skin | malignant_melanoma | Substitution - Missense |
c.1744_1745ins54; p.T582>19; 13:28034174-28034175 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1853C>T; p.S618L; 13:28033976-28033976 |
skin | malignant_melanoma | Substitution - Missense |
c.206_207CC>TT; p.P69L; 13:28062028-28062029 |
skin | malignant_melanoma | Substitution - Missense |
c.699delC; p.R234fs*14; 13:28050138-28050138 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1007C>G; p.P336R; 13:28049413-28049413 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2950_2951delCT; p.P986fs*>8; 13:28004083-28004084 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.649G>A; p.E217K; 13:28050188-28050188 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1171_1172CC>TT; p.P391F; 13:28048308-28048309 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1809_1810ins30; p.W603_E604ins10; 13:28034109-28034110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1816_1817ins63; p.P606_R607ins21; 13:28034102-28034103 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - In frame |
c.1819_1820ins39; p.P606_R607ins13; 13:28034099-28034100 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.882G>A; p.E294E; 13:28049635-28049635 |
skin | malignant_melanoma | Substitution - coding silent |
c.1793_1794ins24; p.Y597_E598insDYVDFREY; 13:28034125-28034126 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1829_1830ins96; p.L610_E611ins32; 13:28034089-28034090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2001G>A; p.Q667Q; 13:28028230-28028230 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2503G>C; p.D835H; 13:28018505-28018505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1134A>C; p.Q378H; 13:28048346-28048346 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.2441C>T; p.A814V; 13:28018567-28018567 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.966A>G; p.R322R; 13:28049454-28049454 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.88C>T; p.L30L; 13:28070568-28070568 |
breast | carcinoma | Substitution - coding silent |
c.2459C>A; p.T820N; 13:28018549-28018549 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.1780_1781ins33; p.D593_F594ins11; 13:28034138-28034139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.884G>A; p.G295D; 13:28049536-28049536 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.526A>T; p.M176L; 13:28052633-28052633 |
skin | malignant_melanoma | Substitution - Missense |
c.1073A>C; p.D358A; 13:28048407-28048407 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1769_1770ins39; p.F590_Y591ins13; 13:28034149-28034150 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1812_1813ins66; p.E604_F605ins22; 13:28034106-28034107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.884G>A; p.G295D; 13:28049536-28049536 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2957C>T; p.P986L; 13:28004077-28004077 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1837+4_1837+5ins87; p.?; 13:28034077-28034078 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2957C>T; p.P986L; 13:28004077-28004077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2500C>T; p.R834*; 13:28018508-28018508 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1911C>A; p.V637V; 13:28033918-28033918 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2500C>T; p.R834*; 13:28018508-28018508 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1836T>A; p.F612L; 13:28034083-28034083 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2685T>C; p.D895D; 13:28015225-28015225 |
pancreas | carcinoma | Substitution - coding silent |
c.1815_1816ins39; p.F605_P606ins13; 13:28034103-28034104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2464G>A; p.G822R; 13:28018544-28018544 |
skin | malignant_melanoma | Substitution - Missense |
c.1240G>T; p.G414*; 13:28037254-28037254 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1836_1837ins51; p.F612_G613ins17; 13:28034082-28034083 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - In frame |
c.1800_1801ins51; p.D600_L601ins17; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1821_1822ins69; p.R607_E608ins23; 13:28034097-28034098 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - In frame |
c.305C>T; p.S102F; 13:28061930-28061930 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1426G>C; p.E476Q; 13:28035666-28035666 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1803_1804ins21; p.L601_K602insREYEYDL; 13:28034115-28034116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1765_1776del12; p.Y589_V592delYFYV; 13:28034143-28034154 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia | Deletion - In frame |
c.1800_1801ins51; p.D600_L601ins17; 13:28034118-28034119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1830_1831ins54; p.L610_E611ins18; 13:28034088-28034089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1776_1777ins60; p.V592_D593ins20; 13:28034142-28034143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.2445G>T; p.R815S; 13:28018563-28018563 |
liver | carcinoma | Substitution - Missense |
c.1801_1802ins21; p.L601_K602insQRI*; 13:28034117-28034118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |
c.1842G>A; p.K614K; 13:28033987-28033987 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1842G>A; p.K614K; 13:28033987-28033987 |
oesophagus | carcinoma | Substitution - coding silent |
c.1705_1740del36; p.Q569_Q580del12; 13:28034179-28034214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.238G>A; p.A80T; 13:28061997-28061997 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2668C>A; p.P890T; 13:28015242-28015242 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.501A>G; p.T167T; 13:28052658-28052658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2634G>A; p.L878L; 13:28015609-28015609 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1717_1718ins72; p.E573_S574ins14; 13:28034201-28034202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - In frame |