General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 171023 |
Name | ASXL1 |
Synonymous | additional sex combs like transcriptional regulator 1;ASXL1;additional sex combs like transcriptional regulator 1 |
Definition | additional sex combs like 1|putative Polycomb group protein ASXL1 |
Position | 20q11 |
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 0.80. |
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.160G>T; p.A54S; 20:32369031-32369031 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3379G>A; p.D1127N; 20:32436091-32436091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3379G>A; p.D1127N; 20:32436091-32436091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2320A>T; p.R774*; 20:32435032-32435032 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.396G>A; p.S132S; 20:32428347-32428347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3084G>A; p.S1028S; 20:32435796-32435796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3084G>A; p.S1028S; 20:32435796-32435796 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.396G>A; p.S132S; 20:32428347-32428347 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3304G>T; p.E1102*; 20:32436016-32436016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1915_1941>18; p.T639_P647>PPSDGS; 20:32434627-32434653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - deletion inframe |
c.1934_1935delGT; p.G646fs*11; 20:32434646-32434647 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.1900A>T; p.R634*; 20:32434612-32434612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3658A>T; p.I1220F; 20:32436370-32436370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1900A>T; p.R634*; 20:32434612-32434612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_myelodysplastic_syndrome_therapy_related_NOS | Substitution - Missense |
c.2502_2502delT; p.T836fs*2; 20:32435214-32435214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.589G>A; p.G197S; 20:32429924-32429924 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3306G>T; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.3788_3788delC; p.P1263fs*17; 20:32436500-32436500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2083_2084delCA; p.Q695fs*22; 20:32434795-32434796 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1710G>A; p.P570P; 20:32433908-32433908 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2384delC; p.W796fs*22; 20:32435096-32435096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4008G>A; p.G1336G; 20:32436720-32436720 |
breast | carcinoma | Substitution - coding silent |
c.2431A>G; p.N811D; 20:32435143-32435143 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2384delC; p.W796fs*22; 20:32435096-32435096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.2883_2884delTG; p.V962fs*7; 20:32435595-32435596 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.433C>T; p.L145F; 20:32428384-32428384 |
skin | malignant_melanoma | Substitution - Missense |
c.2302C>G; p.Q768E; 20:32435014-32435014 |
oesophagus | carcinoma | Substitution - Missense |
c.924A>G; p.L308L; 20:32431624-32431624 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.272C>G; p.S91C; 20:32428147-32428147 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.243C>T; p.F81F; 20:32369114-32369114 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.3012C>A; p.D1004E; 20:32435724-32435724 |
ovary | other; neoplasm | Substitution - Missense |
c.2128delG; p.G710fs*15; 20:32434840-32434840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3012C>A; p.D1004E; 20:32435724-32435724 |
ovary | other; neoplasm | Substitution - Missense |
c.1225A>T; p.K409*; 20:32433423-32433423 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2058_2059delGT; p.C687fs*30; 20:32434770-32434771 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.106C>G; p.Q36E; 20:32366432-32366432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2058_2059delGT; p.C687fs*30; 20:32434770-32434771 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - Frameshift |
c.2356A>G; p.R786G; 20:32435068-32435068 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4189G>A; p.G1397S; 20:32436901-32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2898_2900delAGG; p.G967del; 20:32435610-32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - In frame |
c.3016G>A; p.E1006K; 20:32435728-32435728 |
breast | carcinoma | Substitution - Missense |
c.1612A>G; p.K538E; 20:32433810-32433810 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4189G>A; p.G1397S; 20:32436901-32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4189G>A; p.G1397S; 20:32436901-32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2356A>G; p.R786G; 20:32435068-32435068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4189G>A; p.G1397S; 20:32436901-32436901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Substitution - Missense |
c.2898_2900delAGG; p.G967del; 20:32435610-32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2898_2900delAGG; p.G967del; 20:32435610-32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2356A>G; p.R786G; 20:32435068-32435068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4329_4330insT; p.L1444fs*3; 20:32437041-32437042 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.2898_2900delAGG; p.G967del; 20:32435610-32435612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.2356A>G; p.R786G; 20:32435068-32435068 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2266G>A; p.D756N; 20:32434978-32434978 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1900_1901insA; p.R634fs*24; 20:32434612-32434613 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1671C>T; p.T557T; 20:32433869-32433869 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.2085_2092delACTACTGC; p.Q695fs*20; 20:32434797-32434804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2201delG; p.A735fs*9; 20:32434913-32434913 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1909del22; p.H630fs*66; 20:32434600-32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2593G>A; p.E865K; 20:32435305-32435305 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1888_1909del22; p.H630fs*66; 20:32434600-32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1888_1909del22; p.H630fs*66; 20:32434600-32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1888_1909del22; p.H630fs*66; 20:32434600-32434621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3779G>C; p.G1260A; 20:32436491-32436491 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2668C>T; p.L890F; 20:32435380-32435380 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1926_1927insG; p.G646fs*12; 20:32434638-32434639 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Insertion - Frameshift |
c.1926_1927insG; p.G646fs*12; 20:32434638-32434639 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Insertion - Frameshift |
c.473C>T; p.A158V; 20:32429339-32429339 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1926_1927insG; p.G646fs*12; 20:32434638-32434639 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1926_1927insG; p.G646fs*12; 20:32434638-32434639 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2704C>T; p.P902S; 20:32435416-32435416 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4399C>A; p.L1467I; 20:32437111-32437111 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2668C>T; p.L890F; 20:32435380-32435380 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1926_1927insG; p.G646fs*12; 20:32434638-32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1945G>T; p.G649*; 20:32434657-32434657 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3824C>G; p.S1275*; 20:32436536-32436536 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.473C>T; p.A158V; 20:32429339-32429339 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1926_1927insG; p.G646fs*12; 20:32434638-32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4488C>G; p.S1496R; 20:32437200-32437200 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.604_605CC>TT; p.P202L; 20:32429939-32429940 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166C>A; p.L56I; 20:32369037-32369037 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4099G>A; p.V1367I; 20:32436811-32436811 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2332C>T; p.Q778*; 20:32435044-32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.74C>T; p.S25L; 20:32366400-32366400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2332C>T; p.Q778*; 20:32435044-32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2332C>T; p.Q778*; 20:32435044-32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1880C>T; p.A627V; 20:32434592-32434592 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2423_2424insC; p.A809fs*13; 20:32435135-32435136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2395G>A; p.D799N; 20:32435107-32435107 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2242C>T; p.Q748*; 20:32434954-32434954 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2592C>T; p.D864D; 20:32435304-32435304 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1125G>T; p.V375V; 20:32433323-32433323 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2348_2349insT; p.D784fs*3; 20:32435060-32435061 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2541_2541delC; p.T848fs*19; 20:32435253-32435253 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1924G>T; p.G642*; 20:32434636-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4078C>T; p.P1360S; 20:32436790-32436790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2506A>C; p.T836P; 20:32435218-32435218 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2242C>T; p.Q748*; 20:32434954-32434954 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.359G>A; p.S120N; 20:32428234-32428234 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2541_2541delC; p.T848fs*19; 20:32435253-32435253 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2331_2332insGGAG; p.Q778fs*10; 20:32435043-32435044 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1452G>C; p.E484D; 20:32433650-32433650 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2357G>T; p.R786I; 20:32435069-32435069 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4243C>T; p.R1415*; 20:32436955-32436955 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.462T>C; p.A154A; 20:32428413-32428413 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4520C>T; p.A1507V; 20:32437232-32437232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.163T>A; p.C55S; 20:32369034-32369034 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.4243C>T; p.R1415*; 20:32436955-32436955 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.673C>T; p.Q225*; 20:32430008-32430008 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1157_1160delTGTG; p.C387fs*74; 20:32433355-32433358 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.1161T>A; p.C387*; 20:32433359-32433359 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.1803delG; p.E602fs*101; 20:32434515-32434515 |
kidney | Wilms_tumour | Deletion - Frameshift |
c.831A>G; p.P277P; 20:32431433-32431433 |
liver | carcinoma | Substitution - coding silent |
c.4031C>T; p.S1344F; 20:32436743-32436743 |
skin | malignant_melanoma | Substitution - Missense |
c.2464_2465insA; p.T822fs*11; 20:32435176-32435177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.2944_2944delA; p.K982fs*2; 20:32435656-32435656 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Deletion - Frameshift |
c.1565A>T; p.Q522L; 20:32433763-32433763 |
thyroid | other; neoplasm | Substitution - Missense |
c.3934G>T; p.A1312S; 20:32436646-32436646 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1899_1921del23; p.E635fs*15; 20:32434611-32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Deletion - Frameshift |
c.1249C>T; p.R417*; 20:32433447-32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2475_2476insA; p.G826fs*7; 20:32435187-32435188 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1249C>T; p.R417*; 20:32433447-32433447 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Nonsense |
c.1899_1921del23; p.E635fs*15; 20:32434611-32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2536A>C; p.S846R; 20:32435248-32435248 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1957_1964delGGGGCCAC; p.G653fs*2; 20:32434669-32434676 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1249C>T; p.R417*; 20:32433447-32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1899_1921del23; p.E635fs*15; 20:32434611-32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1859_1859delG; p.R620fs*83; 20:32434571-32434571 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1249C>T; p.R417*; 20:32433447-32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Nonsense |
c.1249C>T; p.R417*; 20:32433447-32433447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2324_2324delT; p.L775fs*1; 20:32435036-32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2387G>T; p.W796L; 20:32435099-32435099 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2190C>A; p.C730*; 20:32434902-32434902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2324_2324delT; p.L775fs*1; 20:32435036-32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3214G>A; p.V1072I; 20:32435926-32435926 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1062C>A; p.F354L; 20:32432962-32432962 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1835G>T; p.R612M; 20:32434547-32434547 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2577_2577delC; p.N859fs*8; 20:32435289-32435289 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2467delT; p.L823fs*1; 20:32435179-32435179 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.2175A>G; p.R725R; 20:32434887-32434887 |
breast | carcinoma | Substitution - coding silent |
c.2537G>A; p.S846N; 20:32435249-32435249 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1863_1873del11; p.L622fs*9; 20:32434575-32434585 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1900_1921del22; p.R634fs*62; 20:32434612-32434633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1863_1873del11; p.L622fs*9; 20:32434575-32434585 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1197A>T; p.P399P; 20:32433395-32433395 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2290_2291insC; p.L764fs*10; 20:32435002-32435003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.3010G>A; p.D1004N; 20:32435722-32435722 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2034G>T; p.R678S; 20:32434746-32434746 |
pancreas | carcinoma | Substitution - Missense |
c.2518C>T; p.P840S; 20:32435230-32435230 |
skin | malignant_melanoma | Substitution - Missense |
c.4471C>T; p.Q1491*; 20:32437183-32437183 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.4090G>C; p.V1364L; 20:32436802-32436802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2580_2581delAG; p.R860fs*3; 20:32435292-32435293 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2057_2058insA; p.C687fs*31; 20:32434769-32434770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1279A>T; p.K427*; 20:32433477-32433477 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.1732C>T; p.R578C; 20:32434444-32434444 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.486G>A; p.K162K; 20:32429352-32429352 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1633_1634insC; p.R545fs*6; 20:32433831-32433832 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1815C>A; p.C605*; 20:32434527-32434527 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2561C>A; p.T854N; 20:32435273-32435273 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4314G>T; p.Q1438H; 20:32437026-32437026 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1492G>T; p.A498S; 20:32433690-32433690 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1492G>T; p.A498S; 20:32433690-32433690 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3102A>G; p.K1034K; 20:32435814-32435814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3506_3507insT; p.L1170fs*12; 20:32436218-32436219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.2125G>A; p.A709T; 20:32434837-32434837 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1918_1928del11; p.A640fs*14; 20:32434630-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1534C>T; p.Q512*; 20:32433732-32433732 |
breast | carcinoma | Substitution - Nonsense |
c.1534C>T; p.Q512*; 20:32433732-32433732 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1918_1928del11; p.A640fs*14; 20:32434630-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2100T>A; p.Y700*; 20:32434812-32434812 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1896C>A; p.C632*; 20:32434608-32434608 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4394A>G; p.K1465R; 20:32437106-32437106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3100A>G; p.K1034E; 20:32435812-32435812 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3002_3011CAGCCTCTGA>TAGGC; p.T1001fs*4; 20:32435714-32435723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.124G>A; p.G42R; 20:32366450-32366450 |
breast | carcinoma | Substitution - Missense |
c.2250delC; p.V751fs*21; 20:32434962-32434962 |
prostate | carcinoma | Deletion - Frameshift |
c.2357G>A; p.R786K; 20:32435069-32435069 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3828_3828delT; p.P1277fs*3; 20:32436540-32436540 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2707_2708insC; p.N904fs*2; 20:32435419-32435420 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1900A>CGGAG; p.E635fs*24; 20:32434612-32434612 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Complex - frameshift |
c.4127_4128insG; p.P1377fs*3; 20:32436839-32436840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4127_4128insG; p.P1377fs*3; 20:32436839-32436840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4127_4128insG; p.P1377fs*3; 20:32436839-32436840 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1787delG; p.I597fs*106; 20:32434499-32434499 |
soft_tissue; blood_vessel | angiosarcoma | Deletion - Frameshift |
c.2746A>T; p.R916*; 20:32435458-32435458 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3399C>T; p.S1133S; 20:32436111-32436111 |
skin | malignant_melanoma | Substitution - coding silent |
c.1850_1851insA; p.K618fs*1; 20:32434562-32434563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4001C>T; p.P1334L; 20:32436713-32436713 |
skin | malignant_melanoma | Substitution - Missense |
c.3306G>C; p.E1102D; 20:32436018-32436018 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.427C>T; p.R143*; 20:32428378-32428378 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3259T>C; p.Y1087H; 20:32435971-32435971 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2893C>T; p.R965*; 20:32435605-32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2893C>T; p.R965*; 20:32435605-32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.3965C>G; p.P1322R; 20:32436677-32436677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2893C>T; p.R965*; 20:32435605-32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2893C>T; p.R965*; 20:32435605-32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3965C>G; p.P1322R; 20:32436677-32436677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2893C>T; p.R965*; 20:32435605-32435605 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2893C>T; p.R965*; 20:32435605-32435605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1898_1899insA; p.H633fs*2; 20:32434610-32434611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1542T>C; p.T514T; 20:32433740-32433740 |
liver | carcinoma | Substitution - coding silent |
c.1542T>C; p.T514T; 20:32433740-32433740 |
liver | carcinoma | Substitution - coding silent |
c.1589C>A; p.A530E; 20:32433787-32433787 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1915_1978>13; p.T639_G659>PPWD; 20:32434627-32434690 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - deletion inframe |
c.2484C>T; p.G828G; 20:32435196-32435196 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2756_2757insACCA; p.S921fs*4; 20:32435468-32435469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1537G>T; p.E513*; 20:32433735-32433735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2094G>T; p.P698P; 20:32434806-32434806 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.481C>A; p.Q161K; 20:32429347-32429347 |
thyroid | other; neoplasm | Substitution - Missense |
c.555A>G; p.E185E; 20:32429421-32429421 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2011_2012insGGTGAGG; p.A671fs*2; 20:32434723-32434724 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3139A>T; p.N1047Y; 20:32435851-32435851 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1552G>T; p.E518*; 20:32433750-32433750 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.3269G>C; p.R1090T; 20:32435981-32435981 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1851_1852insT; p.K618fs*1; 20:32434563-32434564 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1552G>T; p.E518*; 20:32433750-32433750 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.1851_1852insT; p.K618fs*1; 20:32434563-32434564 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1816C>T; p.R606W; 20:32434528-32434528 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Substitution - Missense |
c.2957A>G; p.N986S; 20:32435669-32435669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3416C>A; p.T1139K; 20:32436128-32436128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1935_1936insT; p.G646fs*12; 20:32434647-32434648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2957A>G; p.N986S; 20:32435669-32435669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2302C>T; p.Q768*; 20:32435014-32435014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2755A>G; p.I919V; 20:32435467-32435467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2302C>T; p.Q768*; 20:32435014-32435014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1935_1936insT; p.G646fs*12; 20:32434647-32434648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2957A>G; p.N986S; 20:32435669-32435669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1935_1936insT; p.G646fs*12; 20:32434647-32434648 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1700C>T; p.P567L; 20:32433898-32433898 |
skin | malignant_melanoma | Substitution - Missense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.160G>A; p.A54T; 20:32369031-32369031 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Substitution - Nonsense |
c.3843C>T; p.S1281S; 20:32436555-32436555 |
skin | malignant_melanoma | Substitution - coding silent |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2077C>T; p.R693*; 20:32434789-32434789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2358A>G; p.R786R; 20:32435070-32435070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4146C>T; p.A1382A; 20:32436858-32436858 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2057_2058insAAAG; p.C687fs*32; 20:32434769-32434770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4146C>T; p.A1382A; 20:32436858-32436858 |
skin | malignant_melanoma | Substitution - coding silent |
c.2358A>G; p.R786R; 20:32435070-32435070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.804C>T; p.I268I; 20:32431406-32431406 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1915_1928del14; p.T639fs*14; 20:32434627-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1910_1932del23; p.A637fs*13; 20:32434622-32434644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1774C>T; p.Q592*; 20:32434486-32434486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1926_1926delA; p.G645fs*58; 20:32434638-32434638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1774C>T; p.Q592*; 20:32434486-32434486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1774C>T; p.Q592*; 20:32434486-32434486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.4411G>A; p.V1471M; 20:32437123-32437123 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1645delC; p.R549fs*154; 20:32433843-32433843 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2463_2464insA; p.T822fs*11; 20:32435175-32435176 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.1774C>T; p.Q592*; 20:32434486-32434486 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1937_1938insG; p.G649fs*9; 20:32434649-32434650 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.1937_1938insG; p.G649fs*9; 20:32434649-32434650 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.4042G>A; p.G1348R; 20:32436754-32436754 |
lung | carcinoma; large_cell_carcinoma | Substitution - Missense |
c.3966G>T; p.P1322P; 20:32436678-32436678 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.3595G>A; p.A1199T; 20:32436307-32436307 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.930C>T; p.N310N; 20:32431630-32431630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1934_1934delG; p.G645fs*58; 20:32434646-32434646 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1256G>A; p.R419K; 20:32433454-32433454 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1934_1934delG; p.G645fs*58; 20:32434646-32434646 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1934_1934delG; p.G645fs*58; 20:32434646-32434646 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1934_1934delG; p.G645fs*58; 20:32434646-32434646 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2535_2535delC; p.S846fs*21; 20:32435247-32435247 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2407C>T; p.Q803*; 20:32435119-32435119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2407C>T; p.Q803*; 20:32435119-32435119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1934_1934delG; p.G645fs*58; 20:32434646-32434646 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.961C>T; p.R321W; 20:32431661-32431661 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2922C>G; p.Y974*; 20:32435634-32435634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1723C>T; p.Q575*; 20:32434435-32434435 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3149T>C; p.M1050T; 20:32435861-32435861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2922C>G; p.Y974*; 20:32435634-32435634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.3218G>T; p.R1073L; 20:32435930-32435930 |
skin | malignant_melanoma | Substitution - Missense |
c.3764C>G; p.S1255*; 20:32436476-32436476 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1903_1925del23; p.E635fs*15; 20:32434615-32434637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Deletion - Frameshift |
c.2535_2536insC; p.S846fs*5; 20:32435247-32435248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.619A>G; p.S207G; 20:32429954-32429954 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3121G>A; p.A1041T; 20:32435833-32435833 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4144G>T; p.A1382S; 20:32436856-32436856 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2572C>T; p.Q858*; 20:32435284-32435284 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2921_2922insTCTT; p.C975fs*8; 20:32435633-32435634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2316_2317insT; p.E773fs*1; 20:32435028-32435029 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Insertion - Frameshift |
c.1190_1191insG; p.G398fs*12; 20:32433388-32433389 |
ovary | carcinoma; small_cell_carcinoma | Insertion - Frameshift |
c.2848_2848delC; p.L950fs*1; 20:32435560-32435560 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Insertion - Frameshift |
c.2254_2255insG; p.A752fs*22; 20:32434966-32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2254_2255insG; p.A752fs*22; 20:32434966-32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_neutrophilic_leukaemia | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3739C>T; p.R1247C; 20:32436451-32436451 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2254_2255insG; p.A752fs*22; 20:32434966-32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3594A>G; p.G1198G; 20:32436306-32436306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1772_1773insA; p.Y591fs*1; 20:32434484-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2387G>A; p.W796*; 20:32435099-32435099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3380A>G; p.D1127G; 20:32436092-32436092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4022G>A; p.S1341N; 20:32436734-32436734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3380A>G; p.D1127G; 20:32436092-32436092 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1830C>T; p.G610G; 20:32434542-32434542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2525_2525delA; p.N842fs*2; 20:32435237-32435237 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2387G>A; p.W796*; 20:32435099-32435099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2387G>A; p.W796*; 20:32435099-32435099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2325A>G; p.L775L; 20:32435037-32435037 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1830C>T; p.G610G; 20:32434542-32434542 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1830C>T; p.G610G; 20:32434542-32434542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1830C>T; p.G610G; 20:32434542-32434542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1830C>T; p.G610G; 20:32434542-32434542 |
breast | carcinoma | Substitution - coding silent |
c.1830C>T; p.G610G; 20:32434542-32434542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1830C>T; p.G610G; 20:32434542-32434542 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2555C>A; p.S852*; 20:32435267-32435267 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4568G>C; p.C1523S; 20:32437280-32437280 |
prostate | adenoma | Substitution - Missense |
c.2641_2642insA; p.R881fs*13; 20:32435353-32435354 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2083C>T; p.Q695*; 20:32434795-32434795 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2598A>G; p.L866L; 20:32435310-32435310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - coding silent |
c.2757_2758insA; p.P920fs*4; 20:32435469-32435470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Insertion - Frameshift |
c.2598A>G; p.L866L; 20:32435310-32435310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - coding silent |
c.3966G>A; p.P1322P; 20:32436678-32436678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3319C>T; p.L1107F; 20:32436031-32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1769_1770insT; p.Y591fs*28; 20:32434481-32434482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.4175C>T; p.P1392L; 20:32436887-32436887 |
skin | malignant_melanoma | Substitution - Missense |
c.3966G>A; p.P1322P; 20:32436678-32436678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3319C>T; p.L1107F; 20:32436031-32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3319C>T; p.L1107F; 20:32436031-32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3966G>A; p.P1322P; 20:32436678-32436678 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3759T>C; p.S1253S; 20:32436471-32436471 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.3935C>A; p.A1312E; 20:32436647-32436647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1779_1780insA; p.C594fs*25; 20:32434491-32434492 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3319C>T; p.L1107F; 20:32436031-32436031 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3759T>C; p.S1253S; 20:32436471-32436471 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1861G>T; p.A621S; 20:32434573-32434573 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1902_1924del23; p.E635fs*15; 20:32434614-32434636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3966G>A; p.P1322P; 20:32436678-32436678 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2310_2311delAG; p.V771fs*2; 20:32435022-32435023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1438G>T; p.E480*; 20:32433636-32433636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1438G>T; p.E480*; 20:32433636-32433636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2066C>G; p.S689*; 20:32434778-32434778 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2265G>T; p.G755G; 20:32434977-32434977 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4127G>A; p.G1376D; 20:32436839-32436839 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1876_1885del10; p.G626fs*74; 20:32434588-32434597 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2988_2989insT; p.E997fs*1; 20:32435700-32435701 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.3203G>T; p.R1068L; 20:32435915-32435915 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1763A>G; p.Q588R; 20:32434475-32434475 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4282T>C; p.S1428P; 20:32436994-32436994 |
breast | carcinoma | Substitution - Missense |
c.1763A>G; p.Q588R; 20:32434475-32434475 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1915_1932>19; p.T639fs*19; 20:32434627-32434644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - frameshift |
c.3203G>A; p.R1068Q; 20:32435915-32435915 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2314G>A; p.A772T; 20:32435026-32435026 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1356G>A; p.G452G; 20:32433554-32433554 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1927_1928insA; p.G643fs*15; 20:32434639-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1927_1928insA; p.G643fs*15; 20:32434639-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3941delT; p.Q1315fs*135; 20:32436653-32436653 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2388G>T; p.W796C; 20:32435100-32435100 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1488C>G; p.N496K; 20:32433686-32433686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2388G>T; p.W796C; 20:32435100-32435100 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1488C>G; p.N496K; 20:32433686-32433686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1927_1928insA; p.G643fs*15; 20:32434639-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1900_1922del23; p.E635fs*15; 20:32434612-32434634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2491C>T; p.L831F; 20:32435203-32435203 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2894_2896delGAG; p.G967delG; 20:32435606-32435608 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Deletion - In frame |
c.1979G>A; p.G660D; 20:32434691-32434691 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2894_2896delGAG; p.G967delG; 20:32435606-32435608 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.1879_1880insG; p.A627fs*8; 20:32434591-32434592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3682G>T; p.E1228*; 20:32436394-32436394 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3682G>T; p.E1228*; 20:32436394-32436394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2179G>A; p.E727K; 20:32434891-32434891 |
NS | malignant_melanoma | Substitution - Missense |
c.2226G>C; p.G742G; 20:32434938-32434938 |
thyroid | carcinoma | Substitution - coding silent |
c.4032C>T; p.S1344S; 20:32436744-32436744 |
skin | malignant_melanoma | Substitution - coding silent |
c.1786_1787insC; p.R596fs*23; 20:32434498-32434499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2388G>A; p.W796*; 20:32435100-32435100 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Nonsense |
c.246G>A; p.T82T; 20:32369117-32369117 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3817C>T; p.R1273C; 20:32436529-32436529 |
skin | malignant_melanoma | Substitution - Missense |
c.2047A>G; p.T683A; 20:32434759-32434759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2786A>GG; p.E929fs*19; 20:32435498-32435498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - frameshift |
c.3817C>T; p.R1273C; 20:32436529-32436529 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4016G>A; p.G1339E; 20:32436728-32436728 |
breast | carcinoma | Substitution - Missense |
c.2507_2507delC; p.T836fs*2; 20:32435219-32435219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1927_1928insG; p.G646fs*12; 20:32434639-32434640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3110G>A; p.W1037*; 20:32435822-32435822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3740G>A; p.R1247H; 20:32436452-32436452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2639C>G; p.T880S; 20:32435351-32435351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3148A>G; p.M1050V; 20:32435860-32435860 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1636C>A; p.Q546K; 20:32433834-32433834 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2638_2639insA; p.T880fs*2; 20:32435350-32435351 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2597T>G; p.L866*; 20:32435309-32435309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2989G>T; p.E997*; 20:32435701-32435701 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2486A>G; p.Q829R; 20:32435198-32435198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1719G>A; p.R573R; 20:32433917-32433917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3512delG; p.A1172fs*2; 20:32436224-32436224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.565+1G>A; p.?; 20:32429432-32429432 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.4242C>T; p.P1414P; 20:32436954-32436954 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3574G>T; p.E1192*; 20:32436286-32436286 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.4237T>G; p.L1413V; 20:32436949-32436949 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2409A>G; p.Q803Q; 20:32435121-32435121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2122C>T; p.Q708*; 20:32434834-32434834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.2122C>T; p.Q708*; 20:32434834-32434834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.2122C>T; p.Q708*; 20:32434834-32434834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.718+10G>A; p.?; 20:32430063-32430063 |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype | Unknown |
c.2409A>G; p.Q803Q; 20:32435121-32435121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2409A>G; p.Q803Q; 20:32435121-32435121 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2498_2501delGTCA; p.S833fs*4; 20:32435210-32435213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Deletion - Frameshift |
c.2346_2374del29; p.H782fs*8; 20:32435058-32435086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2498_2501delGTCA; p.S833fs*4; 20:32435210-32435213 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Deletion - Frameshift |
c.3626G>A; p.S1209N; 20:32436338-32436338 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1698G>A; p.E566E; 20:32433896-32433896 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3851C>G; p.P1284R; 20:32436563-32436563 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1911_1912insC; p.T638fs*20; 20:32434623-32434624 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3047C>T; p.A1016V; 20:32435759-32435759 |
breast | carcinoma | Substitution - Missense |
c.2587G>C; p.D863H; 20:32435299-32435299 |
breast | carcinoma | Substitution - Missense |
c.2110delG; p.E705fs*20; 20:32434822-32434822 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1949G>A; p.G650D; 20:32434661-32434661 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2254_2255GC>T; p.A752fs*20; 20:32434966-32434967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.2813C>G; p.P938R; 20:32435525-32435525 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2118_2119delTA; p.T707fs*10; 20:32434830-32434831 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera | Deletion - Frameshift |
c.1634G>C; p.R545P; 20:32433832-32433832 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2071C>T; p.L691L; 20:32434783-32434783 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1210C>T; p.R404*; 20:32433408-32433408 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Nonsense |
c.404C>A; p.S135Y; 20:32428355-32428355 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2285_2286insT; p.L762fs*12; 20:32434997-32434998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Insertion - Frameshift |
c.2285_2286insT; p.L762fs*12; 20:32434997-32434998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Insertion - Frameshift |
c.1926_1927insA; p.G643fs*15; 20:32434638-32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1926_1927insA; p.G643fs*15; 20:32434638-32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1210C>T; p.R404*; 20:32433408-32433408 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1782C>A; p.C594*; 20:32434494-32434494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1782C>A; p.C594*; 20:32434494-32434494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1782C>A; p.C594*; 20:32434494-32434494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1998_1999delTG; p.D667fs*3; 20:32434710-32434711 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1976G>A; p.G659D; 20:32434688-32434688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2674T>G; p.S892A; 20:32435386-32435386 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.634C>T; p.L212L; 20:32429969-32429969 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2153delG; p.R718fs*7; 20:32434865-32434865 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2560A>T; p.T854S; 20:32435272-32435272 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2869A>T; p.T957S; 20:32435581-32435581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3806C>T; p.S1269L; 20:32436518-32436518 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3797_3812del16; p.L1266fs*9; 20:32436509-32436524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.241T>C; p.F81L; 20:32369112-32369112 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2873C>T; p.S958L; 20:32435585-32435585 |
skin | malignant_melanoma | Substitution - Missense |
c.2869A>T; p.T957S; 20:32435581-32435581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2117_2118insA; p.H706fs*12; 20:32434829-32434830 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.3743C>T; p.A1248V; 20:32436455-32436455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4364_4364delA; p.N1455fs*20; 20:32437076-32437076 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2647G>T; p.E883*; 20:32435359-32435359 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3931G>A; p.A1311T; 20:32436643-32436643 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3911T>A; p.L1304H; 20:32436623-32436623 |
pancreas | carcinoma | Substitution - Missense |
c.3911T>A; p.L1304H; 20:32436623-32436623 |
pancreas | carcinoma | Substitution - Missense |
c.2131A>G; p.T711A; 20:32434843-32434843 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4119T>C; p.F1373F; 20:32436831-32436831 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2324T>A; p.L775*; 20:32435036-32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1850T>C; p.I617T; 20:32434562-32434562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.327G>T; p.E109D; 20:32428202-32428202 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2030_2046del17; p.P677fs*35; 20:32434742-32434758 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2026G>T; p.E676*; 20:32434738-32434738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1867C>T; p.Q623*; 20:32434579-32434579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2878_2879delTG; p.W960fs*9; 20:32435590-32435591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1320A>G; p.K440K; 20:32433518-32433518 |
breast | carcinoma | Substitution - coding silent |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4261C>T; p.L1421F; 20:32436973-32436973 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_neutrophilic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_neutrophilic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2212delG; p.G738fs*6; 20:32434924-32434924 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1934_1935insG; p.G646fs*12; 20:32434646-32434647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2654_2655insGAAAACTT; p.K888fs*1; 20:32435366-32435367 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1500C>T; p.A500A; 20:32433698-32433698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1969G>T; p.E657*; 20:32434681-32434681 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Nonsense |
c.1969G>T; p.E657*; 20:32434681-32434681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2530_2531insC; p.S846fs*5; 20:32435242-32435243 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2530_2531insC; p.S846fs*5; 20:32435242-32435243 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.3503G>C; p.S1168T; 20:32436215-32436215 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2530_2531insC; p.S846fs*5; 20:32435242-32435243 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.488A>C; p.K163T; 20:32429354-32429354 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1969G>T; p.E657*; 20:32434681-32434681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2530_2531insC; p.S846fs*5; 20:32435242-32435243 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1260C>T; p.A420A; 20:32433458-32433458 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2210T>C; p.V737A; 20:32434922-32434922 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1238G>A; p.R413Q; 20:32433436-32433436 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2429_2429delA; p.D810fs*8; 20:32435209-32435209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1776_1840del65; p.Q592fs*5; 20:32434488-32434552 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2324T>G; p.L775*; 20:32435036-32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1322C>T; p.S441F; 20:32433520-32433520 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460G>C; p.A154P; 20:32428411-32428411 |
liver | carcinoma | Substitution - Missense |
c.2324T>G; p.L775*; 20:32435036-32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; juvenile_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2095_2096insGC; p.P699fs*5; 20:32434807-32434808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4622G>C; p.R1541T; 20:32437334-32437334 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1322C>T; p.S441F; 20:32433520-32433520 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2928A>G; p.Q976Q; 20:32435640-32435640 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2095_2096insGC; p.P699fs*5; 20:32434807-32434808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4462C>T; p.L1488F; 20:32437174-32437174 |
pancreas | carcinoma | Substitution - Missense |
c.2423delC; p.P808fs*10; 20:32435135-32435135 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.243C>A; p.F81L; 20:32369114-32369114 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2423delC; p.P808fs*10; 20:32435135-32435135 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2708_2709insGAAT; p.D905fs*2; 20:32435420-32435421 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.581A>C; p.H194P; 20:32429916-32429916 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1978_1980delGGC; p.G660del; 20:32434690-32434692 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.1932G>T; p.G644G; 20:32434644-32434644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1992_1992delC; p.S664fs*39; 20:32434704-32434704 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3896G>A; p.G1299D; 20:32436608-32436608 |
thyroid | carcinoma | Substitution - Missense |
c.2110G>A; p.G704R; 20:32434822-32434822 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.541G>A; p.G181R; 20:32429407-32429407 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3863G>A; p.G1288D; 20:32436575-32436575 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2064G>A; p.T688T; 20:32434776-32434776 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2512A>T; p.K838*; 20:32435224-32435224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.2512A>T; p.K838*; 20:32435224-32435224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2512A>T; p.K838*; 20:32435224-32435224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Nonsense |
c.1578C>T; p.S526S; 20:32433776-32433776 |
liver | carcinoma | Substitution - coding silent |
c.1578C>T; p.S526S; 20:32433776-32433776 |
liver | carcinoma | Substitution - coding silent |
c.904C>T; p.R302C; 20:32431604-32431604 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2434G>T; p.G812C; 20:32435146-32435146 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185_2188delAGCT; p.S729fs*14; 20:32434897-32434900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3237C>G; p.S1079S; 20:32435949-32435949 |
breast | carcinoma | Substitution - coding silent |
c.4069G>A; p.A1357T; 20:32436781-32436781 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3818G>A; p.R1273H; 20:32436530-32436530 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3721G>A; p.E1241K; 20:32436433-32436433 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2422delC; p.P808fs*10; 20:32435134-32435134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.103C>A; p.L35M; 20:32366429-32366429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2422delC; p.P808fs*10; 20:32435134-32435134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2141delC; p.R715fs*10; 20:32434853-32434853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2422delC; p.P808fs*10; 20:32435134-32435134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2958C>T; p.N986N; 20:32435670-32435670 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2919delT; p.Y974fs*10; 20:32435631-32435631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2958C>T; p.N986N; 20:32435670-32435670 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3764C>A; p.S1255*; 20:32436476-32436476 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3864T>C; p.G1288G; 20:32436576-32436576 |
breast | carcinoma | Substitution - coding silent |
c.2601_2601delG; p.G869fs*7; 20:32435313-32435313 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2958C>T; p.N986N; 20:32435670-32435670 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3351C>T; p.P1117P; 20:32436063-32436063 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.472G>A; p.A158T; 20:32429338-32429338 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2428_2440del13; p.D810fs*4; 20:32435140-32435152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.4382C>T; p.P1461L; 20:32437094-32437094 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3350C>T; p.P1117L; 20:32436062-32436062 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2035G>T; p.G679*; 20:32434747-32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.2035G>T; p.G679*; 20:32434747-32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2035G>T; p.G679*; 20:32434747-32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Nonsense |
c.4121_4122insG; p.P1377fs*3; 20:32436833-32436834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2078G>T; p.R693L; 20:32434790-32434790 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2754C>T; p.H918H; 20:32435466-32435466 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2035G>T; p.G679*; 20:32434747-32434747 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.3195G>A; p.W1065*; 20:32435907-32435907 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2035G>T; p.G679*; 20:32434747-32434747 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1927delG; p.G645fs*58; 20:32434639-32434639 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1927delG; p.G645fs*58; 20:32434639-32434639 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3569G>A; p.R1190K; 20:32436281-32436281 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1927delG; p.G645fs*58; 20:32434639-32434639 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.1927delG; p.G645fs*58; 20:32434639-32434639 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.3737T>A; p.V1246D; 20:32436449-32436449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4514A>T; p.Q1505L; 20:32437226-32437226 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1927delG; p.G645fs*58; 20:32434639-32434639 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1927delG; p.G645fs*58; 20:32434639-32434639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1671C>G; p.T557T; 20:32433869-32433869 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3343A>G; p.S1115G; 20:32436055-32436055 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1611A>T; p.E537D; 20:32433809-32433809 |
breast | carcinoma | Substitution - Missense |
c.2698C>T; p.P900S; 20:32435410-32435410 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627_1628insG; p.E543fs*8; 20:32433825-32433826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1208A>G; p.Q403R; 20:32433406-32433406 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2149_2149delA; p.R717fs*8; 20:32434861-32434861 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2822_2822delC; p.P941fs*4; 20:32435534-32435534 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2822_2822delC; p.P941fs*4; 20:32435534-32435534 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1634G>A; p.R545H; 20:32433832-32433832 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2253_2254insG; p.A752fs*22; 20:32434965-32434966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4183C>G; p.L1395V; 20:32436895-32436895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1793_1794TC>A; p.I598fs*105; 20:32434505-32434506 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.3050A>C; p.D1017A; 20:32435762-32435762 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2208_2209insCA; p.V737fs*8; 20:32434920-32434921 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1972G>T; p.G658*; 20:32434684-32434684 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1873_1874delCG; p.A627fs*7; 20:32434585-32434586 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2448_2448delT; p.L817fs*1; 20:32435160-32435160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3184C>T; p.P1062S; 20:32435896-32435896 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1873_1874delCG; p.A627fs*7; 20:32434585-32434586 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4183C>G; p.L1395V; 20:32436895-32436895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1972G>T; p.G658*; 20:32434684-32434684 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.731G>A; p.R244H; 20:32431333-32431333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4304G>C; p.S1435T; 20:32437016-32437016 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4328A>G; p.K1443R; 20:32437040-32437040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2323_2324insA; p.L775fs*12; 20:32435035-32435036 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3005delC; p.S1003fs*21; 20:32435717-32435717 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.3005delC; p.S1003fs*21; 20:32435717-32435717 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3377A>G; p.H1126R; 20:32436089-32436089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3988C>T; p.P1330S; 20:32436700-32436700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1773C>A; p.Y591*; 20:32434485-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1773C>A; p.Y591*; 20:32434485-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.3213G>A; p.A1071A; 20:32435925-32435925 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.484A>G; p.K162E; 20:32429350-32429350 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2395G>T; p.D799Y; 20:32435107-32435107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.489A>C; p.K163N; 20:32429355-32429355 |
ovary | other; neoplasm | Substitution - Missense |
c.1169G>T; p.G390V; 20:32433367-32433367 |
thyroid | other; neoplasm | Substitution - Missense |
c.2395G>T; p.D799Y; 20:32435107-32435107 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.222G>A; p.L74L; 20:32369093-32369093 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2570T>C; p.L857P; 20:32435282-32435282 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4139_4140delCA; p.A1380fs*11; 20:32436851-32436852 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1633delC; p.R545fs*158; 20:32433831-32433831 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_III | Deletion - Frameshift |
c.3989C>A; p.P1330H; 20:32436701-32436701 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.608C>T; p.S203F; 20:32429943-32429943 |
skin | malignant_melanoma | Substitution - Missense |
c.1205G>A; p.R402Q; 20:32433403-32433403 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.858C>T; p.F286F; 20:32431460-32431460 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3933_3934insG; p.A1312fs*17; 20:32436645-32436646 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2862C>A; p.D954E; 20:32435574-32435574 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2147_2147delC; p.A716fs*9; 20:32434859-32434859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2258C>T; p.P753L; 20:32434970-32434970 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1855_1865del11; p.R620fs*11; 20:32434567-32434577 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1762C>T; p.Q588*; 20:32434474-32434474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3935C>T; p.A1312V; 20:32436647-32436647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1123G>A; p.V375M; 20:32433321-32433321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1762C>T; p.Q588*; 20:32434474-32434474 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3635delC; p.L1213fs*4; 20:32436347-32436347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2674_2675insCGGC; p.N893fs*2; 20:32435386-32435387 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.3935C>T; p.A1312V; 20:32436647-32436647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.3935C>T; p.A1312V; 20:32436647-32436647 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1736T>G; p.I579S; 20:32434448-32434448 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3935C>T; p.A1312V; 20:32436647-32436647 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1775A>G; p.Q592R; 20:32434487-32434487 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1775A>G; p.Q592R; 20:32434487-32434487 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1690A>T; p.K564*; 20:32433888-32433888 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2209delG; p.V737fs*7; 20:32434921-32434921 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3187C>T; p.Q1063*; 20:32435899-32435899 |
breast | carcinoma | Substitution - Nonsense |
c.(2896_2901)del3; p.G967del; 20:32435608-32435610 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - In frame |
c.2290_2290delC; p.L764fs*8; 20:32435002-32435002 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4285T>G; p.S1429A; 20:32436997-32436997 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3187_3188insA; p.S1064fs*23; 20:32435899-32435900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3793G>T; p.D1265Y; 20:32436505-32436505 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2389G>T; p.E797*; 20:32435101-32435101 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Substitution - Nonsense |
c.2485C>T; p.Q829*; 20:32435197-32435197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2290_2290delC; p.L764fs*8; 20:32435002-32435002 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2061_2061delT; p.C687fs*1; 20:32434773-32434773 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2485C>T; p.Q829*; 20:32435197-32435197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2400T>G; p.D800E; 20:32435112-32435112 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2113G>T; p.E705*; 20:32434825-32434825 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2920T>C; p.Y974H; 20:32435632-32435632 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2400T>G; p.D800E; 20:32435112-32435112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.1828G>A; p.G610S; 20:32434540-32434540 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2817A>G; p.A939A; 20:32435529-32435529 |
breast | carcinoma | Substitution - coding silent |
c.2433_2433delT; p.N811fs*7; 20:32435145-32435145 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2095delC; p.P699fs*4; 20:32434807-32434807 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1803G>A; p.T601T; 20:32434515-32434515 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2621_2622delCT; p.P874fs*5; 20:32435333-32435334 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.1925_1926insA; p.G643fs*15; 20:32434637-32434638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3810_3811insAA; p.T1271fs*10; 20:32436522-32436523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1220A>G; p.H407R; 20:32433418-32433418 |
breast | carcinoma | Substitution - Missense |
c.168C>G; p.L56L; 20:32369039-32369039 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1925_1926insA; p.G643fs*15; 20:32434637-32434638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.2640_2640delT; p.R881fs*5; 20:32435352-32435352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2101_2107delCCTCTAA; p.P701fs*22; 20:32434813-32434819 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2372C>T; p.S791F; 20:32435084-32435084 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.4315G>A; p.A1439T; 20:32437027-32437027 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1935delT; p.G646fs*57; 20:32434647-32434647 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3835G>A; p.V1279M; 20:32436547-32436547 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1935delT; p.G646fs*57; 20:32434647-32434647 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1935delT; p.G646fs*57; 20:32434647-32434647 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1935delT; p.G646fs*57; 20:32434647-32434647 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1935delT; p.G646fs*57; 20:32434647-32434647 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1935delT; p.G646fs*57; 20:32434647-32434647 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2147delC; p.A716fs*9; 20:32434859-32434859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.4048C>T; p.Q1350*; 20:32436760-32436760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_neutrophilic_leukaemia | Substitution - Nonsense |
c.308A>G; p.E103G; 20:32428183-32428183 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2128G>T; p.G710*; 20:32434840-32434840 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.1902_1923del22; p.A636fs*60; 20:32434614-32434635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.794G>A; p.R265H; 20:32431396-32431396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385C>A; p.S795S; 20:32435097-32435097 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2432A>G; p.N811S; 20:32435144-32435144 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385delC; p.W796fs*22; 20:32435097-32435097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.1838delC; p.L614fs*89; 20:32434550-32434550 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.2197C>T; p.Q733*; 20:32434909-32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2197C>T; p.Q733*; 20:32434909-32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2197C>T; p.Q733*; 20:32434909-32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2385delC; p.W796fs*22; 20:32435097-32435097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.1232G>A; p.R411H; 20:32433430-32433430 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2197C>T; p.Q733*; 20:32434909-32434909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2144_2145insA; p.A716fs*2; 20:32434856-32434857 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2278C>T; p.Q760*; 20:32434990-32434990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2709G>T; p.S903S; 20:32435421-32435421 |
breast | carcinoma | Substitution - coding silent |
c.2278C>T; p.Q760*; 20:32434990-32434990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3671G>C; p.R1224T; 20:32436383-32436383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3748T>C; p.S1250P; 20:32436460-32436460 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2278C>T; p.Q760*; 20:32434990-32434990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Nonsense |
c.3947G>A; p.R1316H; 20:32436659-32436659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1836G>C; p.R612S; 20:32434548-32434548 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3202C>T; p.R1068*; 20:32435914-32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2541C>A; p.S847S; 20:32435253-32435253 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3202C>T; p.R1068*; 20:32435914-32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3202C>T; p.R1068*; 20:32435914-32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Nonsense |
c.3202C>T; p.R1068*; 20:32435914-32435914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1730C>G; p.S577*; 20:32434442-32434442 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2222A>T; p.D741V; 20:32434934-32434934 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2382T>G; p.T794T; 20:32435094-32435094 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.121G>A; p.E41K; 20:32366447-32366447 |
NS | NS | Substitution - Missense |
c.2758_2759insA; p.P920fs*4; 20:32435470-32435471 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1609G>A; p.E537K; 20:32433807-32433807 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2655G>A; p.L885L; 20:32435367-32435367 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664G>A; p.E222K; 20:32429999-32429999 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1609G>A; p.E537K; 20:32433807-32433807 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1917_1990>14; p.A640_S664>PCSGG; 20:32434629-32434702 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - deletion inframe |
c.1894_1895insT; p.C632fs*3; 20:32434606-32434607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Insertion - Frameshift |
c.1423G>A; p.D475N; 20:32433621-32433621 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3299C>A; p.S1100*; 20:32436011-32436011 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3506C>T; p.S1169F; 20:32436218-32436218 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3593G>T; p.G1198V; 20:32436305-32436305 |
breast | carcinoma | Substitution - Missense |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3506C>T; p.S1169F; 20:32436218-32436218 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1375G>A; p.A459T; 20:32433573-32433573 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Deletion - Frameshift |
c.3506C>T; p.S1169F; 20:32436218-32436218 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1331C>A; p.S444*; 20:32433529-32433529 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1888_1910del23; p.E635fs*15; 20:32434600-32434622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4185G>A; p.L1395L; 20:32436897-32436897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2160delC; p.L721fs*4; 20:32434872-32434872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.1749G>A; p.W583*; 20:32434461-32434461 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.395C>T; p.S132L; 20:32428346-32428346 |
skin | malignant_melanoma | Substitution - Missense |
c.1937_1937delG; p.G646fs*57; 20:32434649-32434649 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3115C>T; p.Q1039*; 20:32435827-32435827 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.124G>T; p.G42*; 20:32366450-32366450 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1963_1976del14; p.T655fs*8; 20:32434675-32434688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.3518T>C; p.L1173S; 20:32436230-32436230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.1875_1876insG; p.A627fs*8; 20:32434587-32434588 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4552delG; p.G1518fs*23; 20:32437264-32437264 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.3160A>G; p.T1054A; 20:32435872-32435872 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3557C>T; p.T1186I; 20:32436269-32436269 |
breast | carcinoma | Substitution - Missense |
c.2208A>T; p.T736T; 20:32434920-32434920 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4482T>C; p.T1494T; 20:32437194-32437194 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2926C>T; p.Q976*; 20:32435638-32435638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_neutrophilic_leukaemia | Substitution - Nonsense |
c.2355_2355delT; p.R786fs*32; 20:32435067-32435067 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2415_2415delC; p.T806fs*12; 20:32435127-32435127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2415_2415delC; p.T806fs*12; 20:32435127-32435127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1480C>T; p.P494S; 20:32433678-32433678 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2835_2835delA; p.A946fs*5; 20:32435547-32435547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1771_1772insA; p.Y591fs*1; 20:32434483-32434484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3616_3625del10; p.A1206fs*8; 20:32436328-32436337 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1646G>A; p.R549H; 20:32433844-32433844 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2161_2161delC; p.L721fs*4; 20:32434873-32434873 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3605_3606insA; p.N1203fs*9; 20:32436317-32436318 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.3519G>C; p.L1173F; 20:32436231-32436231 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2688G>A; p.L896L; 20:32435400-32435400 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2338C>T; p.Q780*; 20:32435050-32435050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3598C>T; p.P1200S; 20:32436310-32436310 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2338C>T; p.Q780*; 20:32435050-32435050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1773C>G; p.Y591*; 20:32434485-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3135_3136ins131; p.V1046fs*22; 20:32435847-32435848 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.2846_2847delGT; p.G949fs*5; 20:32435558-32435559 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1773C>G; p.Y591*; 20:32434485-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1773C>G; p.Y591*; 20:32434485-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.1773C>G; p.Y591*; 20:32434485-32434485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1630G>A; p.D544N; 20:32433828-32433828 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1903G>T; p.E635*; 20:32434615-32434615 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3633C>A; p.D1211E; 20:32436345-32436345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2597T>C; p.L866S; 20:32435309-32435309 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2245delC; p.L749fs*23; 20:32434957-32434957 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2049C>T; p.T683T; 20:32434761-32434761 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2053G>A; p.G685R; 20:32434765-32434765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1954G>A; p.G652S; 20:32434666-32434666 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1346A>G; p.Y449C; 20:32433544-32433544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1730C>A; p.S577*; 20:32434442-32434442 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1914C>T; p.T638T; 20:32434626-32434626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.2696T>C; p.I899T; 20:32435408-32435408 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |