General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 54790 |
Name | TET2 |
Synonymous | tet methylcytosine dioxygenase 2;TET2;tet methylcytosine dioxygenase 2 |
Definition | methylcytosine dioxygenase TET2|probable methylcytosine dioxygenase TET2|tet oncogene family member 2 |
Position | 4q24 |
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 0.63. |
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.3410-9delT; p.?; 4:105241330-105241330 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3957_3957delA; p.E1320fs*43; 4:105261761-105261761 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2386G>T; p.E796*; 4:105236328-105236328 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.3812G>C; p.C1271S; 4:105259627-105259627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1216C>T; p.L406F; 4:105235158-105235158 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.?; p.V1371fs*76; 4:105269676-105269676 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.4069G>C; p.E1357Q; 4:105269634-105269634 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.?ins?; p.fs*?; 4:105272598-105272599 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3621G>T; p.E1207D; 4:105243596-105243596 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5908T>C; p.S1970P; 4:105276418-105276418 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.987_988insT; p.E330fs*1; 4:105234929-105234930 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5216_5217insT; p.R1739fs*14; 4:105275726-105275727 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3621G>T; p.E1207D; 4:105243596-105243596 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3058C>T; p.Q1020*; 4:105237000-105237000 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.4757C>A; p.S1586*; 4:105275267-105275267 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3456_3456delA; p.A1153fs*73; 4:105241385-105241385 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3899T>G; p.F1300C; 4:105259714-105259714 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3735C>A; p.Y1245*; 4:105243710-105243710 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2207C>G; p.S736*; 4:105236149-105236149 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2158C>T; p.Q720*; 4:105236100-105236100 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2044C>T; p.H682Y; 4:105235986-105235986 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.521_521delC; p.P174fs*9; 4:105234463-105234463 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4757C>A; p.S1586*; 4:105275267-105275267 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4213G>C; p.E1405Q; 4:105272594-105272594 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2044C>T; p.H682Y; 4:105235986-105235986 |
skin | malignant_melanoma | Substitution - Missense |
c.3735C>A; p.Y1245*; 4:105243710-105243710 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3316G>C; p.E1106Q; 4:105237258-105237258 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3316G>C; p.E1106Q; 4:105237258-105237258 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4165C>T; p.Q1389*; 4:105269730-105269730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.4165C>T; p.Q1389*; 4:105269730-105269730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1887_1887delC; p.H629fs*10; 4:105235829-105235829 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1150A>G; p.S384G; 4:105235092-105235092 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5245_5246insA; p.M1749fs*4; 4:105275755-105275756 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3697T>G; p.W1233G; 4:105243672-105243672 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1887_1887delC; p.H629fs*10; 4:105235829-105235829 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.783_783delC; p.C262fs*31; 4:105234725-105234725 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3697T>G; p.W1233G; 4:105243672-105243672 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1164delT; p.K389fs*38; 4:105235106-105235106 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2302G>C; p.D768H; 4:105236244-105236244 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1318C>G; p.Q440E; 4:105235260-105235260 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1960C>T; p.Q654*; 4:105235902-105235902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1960C>T; p.Q654*; 4:105235902-105235902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.5698G>T; p.V1900F; 4:105276208-105276208 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.3822G>C; p.Q1274H; 4:105259637-105259637 |
ovary | other; neoplasm | Substitution - Missense |
c.845_846insT; p.E283fs*1; 4:105234787-105234788 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.3154A>T; p.K1052*; 4:105237096-105237096 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3708_3716del9; p.P1237_S1239del; 4:105243683-105243691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - In frame |
c.3009G>A; p.W1003*; 4:105236951-105236951 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3811_3812insG; p.C1271fs*29; 4:105259626-105259627 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.3523A>T; p.I1175F; 4:105242856-105242856 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3523A>T; p.I1175F; 4:105242856-105242856 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3658_3658delA; p.T1220fs*6; 4:105243633-105243633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3009G>A; p.W1003*; 4:105236951-105236951 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5509G>A; p.A1837T; 4:105276019-105276019 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.3514G>A; p.G1172S; 4:105242847-105242847 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3803+2_3insT; p.?; 4:105243780-105243781 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2083_2084insA; p.M695fs*17; 4:105236025-105236026 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4537G>C; p.E1513Q; 4:105272918-105272918 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.5602C>T; p.H1868Y; 4:105276112-105276112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5602C>T; p.H1868Y; 4:105276112-105276112 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.5216G>T; p.R1739I; 4:105275726-105275726 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4618C>A; p.Q1540K; 4:105275128-105275128 |
liver | carcinoma | Substitution - Missense |
c.2218C>T; p.Q740*; 4:105236160-105236160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4663_4664insA; p.S1556fs*22; 4:105275173-105275174 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2513delC; p.T838fs*3; 4:105236455-105236455 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3718C>G; p.L1240V; 4:105243693-105243693 |
breast | carcinoma | Substitution - Missense |
c.2638_2641CACA>AC; p.H880fs*20; 4:105236580-105236583 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.4618C>A; p.Q1540K; 4:105275128-105275128 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1059T>A; p.C353*; 4:105235001-105235001 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5216G>T; p.R1739I; 4:105275726-105275726 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4767T>C; p.Y1589Y; 4:105275277-105275277 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5104C>T; p.Q1702*; 4:105275614-105275614 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1480G>A; p.G494R; 4:105235422-105235422 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3406_3409delGTAG; p.V1136fs*15; 4:105237348-105237351 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3958G>T; p.E1320*; 4:105261762-105261762 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.803C>T; p.S268L; 4:105234745-105234745 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1147C>T; p.Q383*; 4:105235089-105235089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5104C>T; p.Q1702*; 4:105275614-105275614 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2620C>G; p.P874A; 4:105236562-105236562 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.5104C>T; p.Q1702*; 4:105275614-105275614 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4974G>T; p.L1658L; 4:105275484-105275484 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - coding silent |
c.1147C>T; p.Q383*; 4:105235089-105235089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4082G>T; p.G1361V; 4:105269647-105269647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.3151C>T; p.Q1051*; 4:105237093-105237093 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.803C>T; p.S268L; 4:105234745-105234745 |
skin | malignant_melanoma | Substitution - Missense |
c.1147C>T; p.Q383*; 4:105235089-105235089 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4012A>T; p.K1338*; 4:105261816-105261816 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5104C>T; p.Q1702*; 4:105275614-105275614 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5104C>T; p.Q1702*; 4:105275614-105275614 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5681C>T; p.P1894L; 4:105276191-105276191 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.291_294delAGTT; p.S99fs*13; 4:105234233-105234236 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2737C>T; p.Q913*; 4:105236679-105236679 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4609C>T; p.Q1537*; 4:105275119-105275119 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.3554A>C; p.K1185T; 4:105242887-105242887 |
liver | carcinoma | Substitution - Missense |
c.4263_4264insAT; p.K1422fs*27; 4:105272644-105272645 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4087A>T; p.K1363*; 4:105269652-105269652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2518_2518delC; p.L840fs*1; 4:105236460-105236460 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.4609C>T; p.Q1537*; 4:105275119-105275119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4609C>T; p.Q1537*; 4:105275119-105275119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2737C>T; p.Q913*; 4:105236679-105236679 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.5297_5298ins42; p.Y1677fs*1; 4:105275807-105275808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.3554A>C; p.K1185T; 4:105242887-105242887 |
liver | carcinoma | Substitution - Missense |
c.1955delA; p.Q652fs*48; 4:105235897-105235897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1354_1354delG; p.E452fs*34; 4:105235296-105235296 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.3929A>C; p.K1310T; 4:105259744-105259744 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2982_2982delC; p.H994fs*13; 4:105236924-105236924 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.3024G>A; p.K1008K; 4:105236966-105236966 |
skin | malignant_melanoma | Substitution - coding silent |
c.2737C>T; p.Q913*; 4:105236679-105236679 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Nonsense |
c.2737C>T; p.Q913*; 4:105236679-105236679 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1930C>T; p.Q644*; 4:105235872-105235872 |
NS | NS | Substitution - Nonsense |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.591_591delT; p.I197fs*10; 4:105234533-105234533 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.241G>T; p.E81*; 4:105234183-105234183 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5642A>G; p.H1881R; 4:105276152-105276152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.5642A>G; p.H1881R; 4:105276152-105276152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2001_2001delT; p.L668fs*32; 4:105235943-105235943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.5703_5704delTT; p.F1901fs*4; 4:105276213-105276214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.1930C>T; p.Q644*; 4:105235872-105235872 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4177A>G; p.T1393A; 4:105269742-105269742 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5642A>G; p.H1881R; 4:105276152-105276152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.3622A>T; p.K1208*; 4:105243597-105243597 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.4108G>A; p.G1370R; 4:105269673-105269673 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5693C>T; p.S1898F; 4:105276203-105276203 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1019_1020insC; p.Q341fs*10; 4:105234961-105234962 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.5071T>G; p.S1691A; 4:105275581-105275581 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.(2290_2292)insC; p.Q764fs*5; 4:105236233-105236234 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1506_1506delT; p.E503fs*30; 4:105235448-105235448 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5348_5348delA; p.N1784fs*36; 4:105275858-105275858 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4928delC; p.P1644fs*51; 4:105275438-105275438 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1040C>T; p.A347V; 4:105234982-105234982 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3594+1delG; p.?; 4:105242928-105242928 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.3730_3731delCT; p.Y1245fs*22; 4:105243705-105243706 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3730_3731delCT; p.Y1245fs*22; 4:105243705-105243706 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2281delC; p.P761fs*52; 4:105236223-105236223 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5192_5192delG; p.G1731fs*14; 4:105275702-105275702 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3730_3731delCT; p.Y1245fs*22; 4:105243705-105243706 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2149_2150delCA; p.H717fs*5; 4:105236091-105236092 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.2242T>A; p.L748I; 4:105236184-105236184 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3730_3731delCT; p.Y1245fs*22; 4:105243705-105243706 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2133_2133delG; p.E711fs*40; 4:105236075-105236075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2133_2133delG; p.E711fs*40; 4:105236075-105236075 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3937delG; p.D1314fs*49; 4:105259752-105259752 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1630C>T; p.R544*; 4:105235572-105235572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3743T>A; p.L1248H; 4:105243718-105243718 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2659G>T; p.E887*; 4:105236601-105236601 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2671C>T; p.Q891*; 4:105236613-105236613 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3671_3671delC; p.A1224fs*2; 4:105243646-105243646 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2728C>T; p.Q910*; 4:105236670-105236670 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.679_680insA; p.T229fs*25; 4:105234621-105234622 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.679_680insA; p.T229fs*25; 4:105234621-105234622 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.3787T>G; p.C1263G; 4:105243762-105243762 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4011_4012insGTAT; p.K1338fs*2; 4:105261815-105261816 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2671C>T; p.Q891*; 4:105236613-105236613 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.749_750insA; p.N250fs*4; 4:105234691-105234692 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3410-2A>C; p.?; 4:105241337-105241337 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.679_680insA; p.T229fs*25; 4:105234621-105234622 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2038A>G; p.R680G; 4:105235980-105235980 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5942A>G; p.D1981G; 4:105276452-105276452 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.290C>T; p.T97I; 4:105234232-105234232 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3379C>T; p.Q1127*; 4:105237321-105237321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.223A>T; p.S75C; 4:105234165-105234165 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1658_1659insG; p.P554fs*13; 4:105235600-105235601 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.762delT; p.Q255fs*38; 4:105234704-105234704 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3047_3050delGTGA; p.C1016fs*16; 4:105236989-105236992 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.3234_3235ins58; p.P1079fs*8; 4:105237176-105237177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2477_2478GT>TA; p.S826I; 4:105236419-105236420 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3954+2T>C; p.?; 4:105261850-105261850 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.5578delG; p.G1861fs*26; 4:105276088-105276088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.1480delG; p.T495fs*2; 4:105235422-105235422 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2827C>T; p.Q943*; 4:105236769-105236769 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1056C>A; p.F352L; 4:105234998-105234998 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5077T>G; p.Y1693D; 4:105275587-105275587 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.367C>A; p.R123S; 4:105234309-105234309 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1837delG; p.L615fs*24; 4:105235779-105235779 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1091G>A; p.G364D; 4:105235033-105235033 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.3725A>T; p.D1242V; 4:105243700-105243700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.2827C>T; p.Q943*; 4:105236769-105236769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3725A>T; p.D1242V; 4:105243700-105243700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera | Substitution - Missense |
c.4759G>A; p.D1587N; 4:105275269-105275269 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.972A>C; p.Q324H; 4:105234914-105234914 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.5704_5704delT; p.Y1902fs*6; 4:105276214-105276214 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1720_1720delC; p.Q574fs*6; 4:105235662-105235662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2710C>T; p.Q904*; 4:105236652-105236652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3954+1G>C; p.?; 4:105243779-105243779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Unknown |
c.3717_3718insT; p.L1240fs*3; 4:105243692-105243693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.744C>A; p.H248Q; 4:105234686-105234686 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.2263G>T; p.E755*; 4:105236205-105236205 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4850C>A; p.P1617H; 4:105275360-105275360 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1825_1825delT; p.S609fs*30; 4:105235767-105235767 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4893T>A; p.Y1631*; 4:105275403-105275403 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3619G>T; p.E1207*; 4:105243594-105243594 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5950_5957delGTAACTAC; p.V1984fs*18; 4:105276460-105276467 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3619G>T; p.E1207*; 4:105243594-105243594 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3728A>G; p.K1243R; 4:105243703-105243703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Nonsense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2104C>T; p.H702Y; 4:105236046-105236046 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2794delG; p.D932fs*21; 4:105236736-105236736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2870_2871insA; p.Q958fs*14; 4:105236812-105236813 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1802delC; p.S602fs*37; 4:105235744-105235744 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.301C>A; p.P101T; 4:105234243-105234243 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.5357_5364delAGAATGAC; p.E1786fs*7; 4:105275867-105275874 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4472A>G; p.K1491R; 4:105272853-105272853 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4354C>T; p.R1452*; 4:105272735-105272735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.2576_2577insAGAC; p.Q860fs*13; 4:105236518-105236519 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4045-1G>C; p.?; 4:105269609-105269609 |
breast | carcinoma | Unknown |
c.4045-1G>C; p.?; 4:105269609-105269609 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.4113_4120delCACTGCAT; p.T1372fs*26; 4:105269678-105269685 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4396_4416del21; p.Q1466_K1472del; 4:105272777-105272797 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - In frame |
c.2911G>T; p.E971*; 4:105236853-105236853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4468G>T; p.E1490*; 4:105272849-105272849 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4778G>A; p.S1593N; 4:105275288-105275288 |
breast | carcinoma | Substitution - Missense |
c.4621C>T; p.Q1541*; 4:105275131-105275131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4106C>T; p.S1369L; 4:105269671-105269671 |
breast | carcinoma | Substitution - Missense |
c.1300C>T; p.H434Y; 4:105235242-105235242 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1993_1994insAA; p.T665fs*36; 4:105235935-105235936 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3887A>G; p.N1296S; 4:105259702-105259702 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.5556_5556delG; p.S1853fs*34; 4:105276066-105276066 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4474G>T; p.E1492*; 4:105272855-105272855 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3862G>A; p.G1288S; 4:105259677-105259677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1241A>T; p.Q414L; 4:105235183-105235183 |
liver | carcinoma | Substitution - Missense |
c.1020_1020delC; p.Q341fs*6; 4:105234962-105234962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2321C>T; p.S774L; 4:105236263-105236263 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4186T>C; p.C1396R; 4:105272567-105272567 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3009_3009delG; p.W1003fs*1; 4:105236951-105236951 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2309_2310delAA; p.E772fs*8; 4:105236251-105236252 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2452C>G; p.P818A; 4:105236394-105236394 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2256_2259delTAAA; p.N752fs*60; 4:105236198-105236201 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1851_1851delG; p.R617fs*22; 4:105235793-105235793 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2291A>G; p.Q764R; 4:105236233-105236233 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3862G>A; p.G1288S; 4:105259677-105259677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1241A>T; p.Q414L; 4:105235183-105235183 |
liver | carcinoma | Substitution - Missense |
c.4312A>T; p.K1438*; 4:105272693-105272693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2855_2856insT; p.R953fs*19; 4:105236797-105236798 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1118_1122delAAAAT; p.Q373fs*15; 4:105235060-105235064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.4128C>A; p.D1376E; 4:105269693-105269693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3109_3110insC; p.K1038fs*5; 4:105237051-105237052 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.5209_5210delAC; p.T1737fs*2; 4:105275719-105275720 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3732_3733delCT; p.Y1245fs*22; 4:105243707-105243708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1118_1122delAAAAT; p.Q373fs*15; 4:105235060-105235064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4544_4545insT; p.L1515fs*63; 4:105275054-105275055 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Insertion - Frameshift |
c.2665delA; p.K889fs*32; 4:105236607-105236607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1235delT; p.P413fs*14; 4:105235177-105235177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.3852_3854delCTT; p.F1285del; 4:105259667-105259669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - In frame |
c.1252_1255delCTTC; p.P419fs*7; 4:105235194-105235197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3852_3854delCTT; p.F1285del; 4:105259667-105259669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.3852_3854delCTT; p.F1285del; 4:105259667-105259669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - In frame |
c.2095T>A; p.L699M; 4:105236037-105236037 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.2095T>A; p.L699M; 4:105236037-105236037 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.3729_3729delA; p.K1243fs*10; 4:105243704-105243704 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4183-16_4183-6del11; p.?; 4:105272548-105272558 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.4748C>A; p.S1583*; 4:105275258-105275258 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.5539_5541TGG>A; p.W1847fs*11; 4:105276049-105276051 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.675delC; p.L226fs*24; 4:105234617-105234617 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5609C>T; p.S1870L; 4:105276119-105276119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4097G>A; p.R1366H; 4:105269662-105269662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.763C>T; p.Q255*; 4:105234705-105234705 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3657C>G; p.H1219Q; 4:105243632-105243632 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5538C>A; p.V1846V; 4:105276048-105276048 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4097G>A; p.R1366H; 4:105269662-105269662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4097G>A; p.R1366H; 4:105269662-105269662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4817G>C; p.G1606A; 4:105275327-105275327 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1567G>T; p.G523*; 4:105235509-105235509 |
kidney | other; neoplasm | Substitution - Nonsense |
c.763C>T; p.Q255*; 4:105234705-105234705 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4064C>T; p.A1355V; 4:105269629-105269629 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3214_3215insG; p.A1072fs*4; 4:105237157-105237158 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1567G>T; p.G523*; 4:105235509-105235509 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.4064C>T; p.A1355V; 4:105269629-105269629 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.67C>T; p.P23S; 4:105234009-105234009 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2362G>A; p.E788K; 4:105236304-105236304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5609C>T; p.S1870L; 4:105276119-105276119 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.5609C>T; p.S1870L; 4:105276119-105276119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4097G>A; p.R1366H; 4:105269662-105269662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1707C>T; p.A569A; 4:105235649-105235649 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.4285delT; p.F1429fs*19; 4:105272666-105272666 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5117delT; p.F1706fs*13; 4:105275627-105275627 |
prostate | carcinoma | Deletion - Frameshift |
c.2809C>G; p.H937D; 4:105236751-105236751 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1070delG; p.S357fs*15; 4:105235012-105235012 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.311delC; p.S104fs*9; 4:105234253-105234253 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5119_5125delAGCAGTT; p.S1707fs*10; 4:105275629-105275635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.322C>T; p.Q108*; 4:105234264-105234264 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4183-1G>A; p.?; 4:105272563-105272563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.4183-1G>C; p.?; 4:105272563-105272563 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.4269C>A; p.V1423V; 4:105272650-105272650 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3735C>G; p.Y1245*; 4:105243710-105243710 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3309delT; p.F1104fs*2; 4:105237251-105237251 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3711G>A; p.P1237P; 4:105243686-105243686 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.3500+10G>A; p.?; 4:105241439-105241439 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.80C>T; p.T27I; 4:105234022-105234022 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5750G>A; p.W1917*; 4:105276260-105276260 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.702T>G; p.Y234*; 4:105234644-105234644 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.5182G>T; p.E1728*; 4:105275692-105275692 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3379delC; p.Q1127fs*10; 4:105237321-105237321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.824A>G; p.N275S; 4:105234766-105234766 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2271_2277delCCAGACT; p.Q758fs*53; 4:105236213-105236219 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.3139delA; p.T1047fs*8; 4:105237081-105237081 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4162delA; p.M1388fs*60; 4:105269727-105269727 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5254delA; p.N1753fs*10; 4:105275764-105275764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3661T>C; p.C1221R; 4:105243636-105243636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2123C>G; p.S708*; 4:105236065-105236065 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3263C>A; p.S1088*; 4:105237205-105237205 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.601delA; p.N202fs*5; 4:105234543-105234543 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2123C>G; p.S708*; 4:105236065-105236065 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1683_1684insAA; p.P562fs*7; 4:105235625-105235626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4619_4619delA; p.Q1540fs*31; 4:105275129-105275129 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.3764_3765insA; p.Y1255fs*1; 4:105243739-105243740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3764_3765insA; p.Y1255fs*1; 4:105243739-105243740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5319delC; p.F1773fs*47; 4:105275829-105275829 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2276_2277insT; p.P761fs*8; 4:105236218-105236219 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.5456_5462delTAAGTGA; p.S1820fs*11; 4:105275966-105275972 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3866G>A; p.C1289Y; 4:105259681-105259681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.318_331del14; p.L107fs*8; 4:105234260-105234273 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4078C>A; p.L1360M; 4:105269643-105269643 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.4141_4142insG; p.A1381fs*20; 4:105269706-105269707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3251_3251delA; p.T1085fs*21; 4:105237193-105237193 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3764_3765insA; p.Y1255fs*1; 4:105243739-105243740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3986T>C; p.L1329P; 4:105261790-105261790 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3866G>A; p.C1289Y; 4:105259681-105259681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.688_689delCT; p.L230fs*23; 4:105234630-105234631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5841A>C; p.K1947N; 4:105276351-105276351 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4100C>G; p.P1367R; 4:105269665-105269665 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4168A>C; p.N1390H; 4:105269733-105269733 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2166_2166delG; p.K722fs*29; 4:105236108-105236108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4128C>G; p.D1376E; 4:105269693-105269693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4889C>A; p.S1630*; 4:105275399-105275399 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.2554G>T; p.E852*; 4:105236496-105236496 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.2771A>G; p.H924R; 4:105236713-105236713 |
thyroid | other; neoplasm | Substitution - Missense |
c.4889C>A; p.S1630*; 4:105275399-105275399 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3227G>C; p.S1076T; 4:105237169-105237169 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4044+1G>C; p.?; 4:105261849-105261849 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.?_?delA; p.?fs*?; 4:105242834-105242834 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.393delA; p.N132fs*13; 4:105234335-105234335 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2352delT; p.H786fs*27; 4:105236294-105236294 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3781C>T; p.R1261C; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4147A>G; p.R1383G; 4:105269712-105269712 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.1467_1468insT; p.I490fs*14; 4:105235409-105235410 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.4513G>A; p.A1505T; 4:105272894-105272894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1467_1468insT; p.I490fs*14; 4:105235409-105235410 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.4513G>A; p.A1505T; 4:105272894-105272894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.5734C>T; p.H1912Y; 4:105276244-105276244 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4513G>A; p.A1505T; 4:105272894-105272894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1742_1743insA; p.N582fs*1; 4:105235684-105235685 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1741C>T; p.R581C; 4:105235683-105235683 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4513G>A; p.A1505T; 4:105272894-105272894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.5824C>T; p.Q1942*; 4:105276334-105276334 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4333C>T; p.Q1445*; 4:105272714-105272714 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4513G>A; p.A1505T; 4:105272894-105272894 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.949C>T; p.Q317*; 4:105234891-105234891 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4615C>T; p.Q1539*; 4:105275125-105275125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2965_2966insAAGC; p.P989fs*21; 4:105236907-105236908 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4615C>T; p.Q1539*; 4:105275125-105275125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2227C>T; p.Q743*; 4:105236169-105236169 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4834_4835insA; p.S1612fs*2; 4:105275344-105275345 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5041_5048delCCAAGGTT; p.P1681fs*3; 4:105275551-105275558 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3837_3838delAA; p.E1279fs*20; 4:105259652-105259653 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4615C>T; p.Q1539*; 4:105275125-105275125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5554C>T; p.Q1852*; 4:105276064-105276064 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4615C>T; p.Q1539*; 4:105275125-105275125 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1847_1848insC; p.R617fs*21; 4:105235789-105235790 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2953delC; p.P985fs*22; 4:105236895-105236895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2527G>T; p.E843*; 4:105236469-105236469 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5554C>T; p.Q1852*; 4:105276064-105276064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5554C>T; p.Q1852*; 4:105276064-105276064 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1973_1973delA; p.H658fs*42; 4:105235915-105235915 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.5041_5048delCCAAGGTT; p.P1681fs*3; 4:105275551-105275558 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Deletion - Frameshift |
c.2227C>T; p.Q743*; 4:105236169-105236169 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.2227C>T; p.Q743*; 4:105236169-105236169 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1669C>T; p.Q557*; 4:105235611-105235611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3921delG; p.K1308fs*55; 4:105259736-105259736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4112T>A; p.V1371D; 4:105269677-105269677 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1669C>T; p.Q557*; 4:105235611-105235611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4714C>T; p.R1572W; 4:105275224-105275224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4994delA; p.D1665fs*30; 4:105275504-105275504 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4176C>G; p.S1392R; 4:105269741-105269741 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5641C>T; p.H1881Y; 4:105276151-105276151 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1669C>T; p.Q557*; 4:105235611-105235611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.5951_5952insT; p.T1985fs*20; 4:105276461-105276462 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.4618C>T; p.Q1540*; 4:105275128-105275128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1669C>T; p.Q557*; 4:105235611-105235611 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.4714C>T; p.R1572W; 4:105275224-105275224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.73T>C; p.C25R; 4:105234015-105234015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2981A>G; p.H994R; 4:105236923-105236923 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5642A>C; p.H1881P; 4:105276152-105276152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1691G>A; p.W564*; 4:105235633-105235633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5219T>A; p.L1740*; 4:105275729-105275729 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
thyroid | other; neoplasm | Substitution - Missense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.5284A>G; p.I1762V; 4:105275794-105275794 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2246_2249delAAAT; p.I750fs*62; 4:105236188-105236191 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4317_4318delAC; p.R1440fs*37; 4:105272698-105272699 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4965G>A; p.P1655P; 4:105275475-105275475 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2866C>A; p.L956I; 4:105236808-105236808 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2347G>T; p.E783*; 4:105236289-105236289 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.506_507delAT; p.H169fs*6; 4:105234448-105234449 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4501C>T; p.Q1501*; 4:105272882-105272882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5680C>A; p.P1894T; 4:105276190-105276190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2131_2131delG; p.E711fs*40; 4:105236073-105236073 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2866C>A; p.L956I; 4:105236808-105236808 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1255delC; p.P419fs*8; 4:105235197-105235197 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3986T>G; p.L1329R; 4:105261790-105261790 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.630_631delTG; p.A211fs*13; 4:105234572-105234573 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.4427C>T; p.A1476V; 4:105272808-105272808 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3483A>C; p.R1161S; 4:105241412-105241412 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2721_2722insCT; p.G908fs*14; 4:105236663-105236664 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1310A>G; p.Y437C; 4:105235252-105235252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4879C>T; p.Q1627*; 4:105275389-105275389 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.4679_4680insA; p.Y1560fs*1; 4:105275189-105275190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4679_4680insA; p.Y1560fs*1; 4:105275189-105275190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2254_2257delAATA; p.N752fs*60; 4:105236196-105236199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4879C>T; p.Q1627*; 4:105275389-105275389 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2254_2257delAATA; p.N752fs*60; 4:105236196-105236199 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3344_3344delC; p.P1115fs*2; 4:105237286-105237286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2282_2282delC; p.P761fs*52; 4:105236224-105236224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.2276C>A; p.T759N; 4:105236218-105236218 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2245C>T; p.Q749*; 4:105236187-105236187 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2282_2282delC; p.P761fs*52; 4:105236224-105236224 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2245C>T; p.Q749*; 4:105236187-105236187 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.(1842_1844)insG; p.L615fs*23; 4:105235784-105235785 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4317delA; p.K1439fs*9; 4:105272698-105272698 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4954C>T; p.Q1652*; 4:105275464-105275464 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3117G>A; p.S1039S; 4:105237059-105237059 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.4250_4251insTCTG; p.P1419fs*8; 4:105272631-105272632 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.958G>A; p.E320K; 4:105234900-105234900 |
skin | malignant_melanoma | Substitution - Missense |
c.5621A>G; p.E1874G; 4:105276131-105276131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3885_3885delC; p.Y1295fs*1; 4:105259700-105259700 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3579T>G; p.C1193W; 4:105242912-105242912 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.256_257insT; p.S86fs*14; 4:105234198-105234199 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2055_2056insA; p.R686fs*7; 4:105235997-105235998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3579T>G; p.C1193W; 4:105242912-105242912 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1558G>A; p.G520S; 4:105235500-105235500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4988delG; p.S1663fs*32; 4:105275498-105275498 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1753_1753delT; p.S585fs*16; 4:105235695-105235695 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2878C>T; p.Q960*; 4:105236820-105236820 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4126G>A; p.D1376N; 4:105269691-105269691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.4475A>G; p.E1492G; 4:105272856-105272856 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4126G>A; p.D1376N; 4:105269691-105269691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4910_4911ins52; p.S1638fs*40; 4:105275420-105275421 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5704T>C; p.Y1902H; 4:105276214-105276214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1602_1605delAAAC; p.N535fs*6; 4:105235544-105235547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4832C>A; p.S1611Y; 4:105275342-105275342 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1602_1605delAAAC; p.N535fs*6; 4:105235544-105235547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4832C>A; p.S1611Y; 4:105275342-105275342 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.976A>T; p.K326*; 4:105234918-105234918 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.946T>A; p.F316I; 4:105234888-105234888 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.(1176_1179)insT; p.(S393_A394)fs*(49_50); 4:105235118-105235119 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.3788delG; p.C1263fs*3; 4:105243763-105243763 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3632G>A; p.C1211Y; 4:105243607-105243607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5111_5123del13; p.D1704fs*11; 4:105275621-105275633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.238C>T; p.Q80*; 4:105234180-105234180 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1966C>T; p.P656S; 4:105235908-105235908 |
breast | carcinoma | Substitution - Missense |
c.1724C>T; p.A575V; 4:105235666-105235666 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2946G>C; p.K982N; 4:105236888-105236888 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3632G>A; p.C1211Y; 4:105243607-105243607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3344delC; p.P1115fs*2; 4:105237286-105237286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3632G>A; p.C1211Y; 4:105243607-105243607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.426C>T; p.S142S; 4:105234368-105234368 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.238C>T; p.Q80*; 4:105234180-105234180 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.829G>A; p.A277T; 4:105234771-105234771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5644G>C; p.A1882P; 4:105276154-105276154 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5122_5122delA; p.S1708fs*11; 4:105275632-105275632 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3632G>A; p.C1211Y; 4:105243607-105243607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4392C>A; p.C1464*; 4:105272773-105272773 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5167C>T; p.P1723S; 4:105275677-105275677 |
skin | malignant_melanoma | Substitution - Missense |
c.2474delC; p.S825fs*1; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4576_4576delC; p.Q1526fs*45; 4:105275086-105275086 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.2474delC; p.S825fs*1; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2810delA; p.H937fs*16; 4:105236752-105236752 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.640_641insT; p.S214fs*11; 4:105234582-105234583 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1706C>T; p.A569V; 4:105235648-105235648 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4148G>A; p.R1383K; 4:105269713-105269713 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2474delC; p.S825fs*1; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2195C>A; p.P732Q; 4:105236137-105236137 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.640_641insT; p.S214fs*11; 4:105234582-105234583 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1842_1843insG; p.L615fs*23; 4:105235784-105235785 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Insertion - Frameshift |
c.4634_4635AG>C; p.Q1545fs*26; 4:105275144-105275145 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.2277_2278delTT; p.F760fs*8; 4:105236219-105236220 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.1532A>G; p.H511R; 4:105235474-105235474 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1842_1843insG; p.L615fs*23; 4:105235784-105235785 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1842_1843insG; p.L615fs*23; 4:105235784-105235785 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4819T>G; p.S1607A; 4:105275329-105275329 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.5167C>T; p.P1723S; 4:105275677-105275677 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3070_3110del41; p.I1024fs*5; 4:105237012-105237052 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.530_530delC; p.P177fs*6; 4:105234472-105234472 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Deletion - Frameshift |
c.3803_3803+5delAGTAAG; p.?; 4:105243778-105243783 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Unknown |
c.4589_4599del11; p.L1531fs*43; 4:105275099-105275109 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.1090_1091GG>T; p.G364fs*8; 4:105235032-105235033 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - frameshift |
c.2803G>T; p.G935*; 4:105236745-105236745 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4055A>T; p.E1352V; 4:105269620-105269620 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4473delG; p.E1492fs*79; 4:105272854-105272854 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.5939_5940delCA; p.T1980fs*24; 4:105276449-105276450 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2447_2447delA; p.N816fs*8; 4:105236389-105236389 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.375_375delC; p.F125fs*3; 4:105234317-105234317 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5885C>T; p.P1962L; 4:105276395-105276395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.629G>A; p.G210D; 4:105234571-105234571 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.4251_4252insTT; p.L1418fs*31; 4:105272632-105272633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3844_3845insTG; p.G1282fs*82; 4:105259659-105259660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5885C>T; p.P1962L; 4:105276395-105276395 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; precursor_T_cell_lymphoblastic_lymphoma | Substitution - Missense |
c.5885C>T; p.P1962L; 4:105276395-105276395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.816_817insCTCAGGG; p.Q273fs*11; 4:105234758-105234759 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2422_2422delG; p.E808fs*5; 4:105236364-105236364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5885C>T; p.P1962L; 4:105276395-105276395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5885C>T; p.P1962L; 4:105276395-105276395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3796A>C; p.N1266H; 4:105243771-105243771 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.1843C>T; p.L615F; 4:105235785-105235785 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.?; p.L1515fs*56; 4:105275054-105275054 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.3781C>A; p.R1261S; 4:105243756-105243756 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3954+1G>A; p.?; 4:105259770-105259770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.2596C>T; p.Q866*; 4:105236538-105236538 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2596C>T; p.Q866*; 4:105236538-105236538 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3270G>C; p.K1090N; 4:105237212-105237212 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3390delC; p.P1131fs*6; 4:105237332-105237332 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3312_3313insT; p.I1105fs*25; 4:105237254-105237255 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.1673_1674delAC; p.H558fs*8; 4:105235615-105235616 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.2742_2742delT; p.A915fs*6; 4:105236684-105236684 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.1326_1327delCA; p.T443fs*11; 4:105235268-105235269 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2643G>A; p.R881R; 4:105236585-105236585 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.3954+1G>A; p.?; 4:105259770-105259770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.3954+1G>A; p.?; 4:105259770-105259770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.3954+1G>A; p.?; 4:105259770-105259770 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.1799_1799delT; p.M600fs*39; 4:105235741-105235741 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3954+1G>A; p.?; 4:105259770-105259770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.5594C>G; p.A1865G; 4:105276104-105276104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5594C>G; p.A1865G; 4:105276104-105276104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3643_3644insG; p.E1215fs*8; 4:105243618-105243619 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3868T>C; p.S1290P; 4:105259683-105259683 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3954+1G>A; p.?; 4:105259770-105259770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2596C>T; p.Q866*; 4:105236538-105236538 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1876C>T; p.Q626*; 4:105235818-105235818 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.313G>A; p.G105R; 4:105234255-105234255 |
skin | malignant_melanoma | Substitution - Missense |
c.5253_5254insA; p.N1753fs*3; 4:105275763-105275764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.3205_3205delA; p.T1069fs*13; 4:105237147-105237147 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3940_3940delG; p.D1314fs*49; 4:105259755-105259755 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.4106C>G; p.S1369*; 4:105269671-105269671 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2094G>T; p.V698V; 4:105236036-105236036 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3205_3205delA; p.T1069fs*13; 4:105237147-105237147 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4011T>A; p.Y1337*; 4:105261815-105261815 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3061C>T; p.Q1021*; 4:105237003-105237003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3717_3718insAC; p.L1240fs*14; 4:105243692-105243693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.948T>A; p.F316L; 4:105234890-105234890 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4011T>A; p.Y1337*; 4:105261815-105261815 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.3897G>T; p.K1299N; 4:105259712-105259712 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2000_2016>C; p.H667fs*28; 4:105235942-105235958 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.3656A>G; p.H1219R; 4:105243631-105243631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2285_2285delA; p.H762fs*51; 4:105236227-105236227 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3337_3337delG; p.D1113fs*4; 4:105237279-105237279 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2179G>A; p.A727T; 4:105236121-105236121 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.717C>T; p.S239S; 4:105234659-105234659 |
skin | malignant_melanoma | Substitution - coding silent |
c.4527_4528insA; p.Q1510fs*68; 4:105272908-105272909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2188_2189delAC; p.Q731fs*22; 4:105236130-105236131 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3445A>G; p.T1149A; 4:105241374-105241374 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2337T>C; p.T779T; 4:105236279-105236279 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3343delC; p.P1115fs*2; 4:105237285-105237285 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4836_4842delTAATCCC; p.N1613fs*1; 4:105275346-105275352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.5612T>G; p.I1871S; 4:105276122-105276122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4993_4994insGACC; p.D1665fs*6; 4:105275503-105275504 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.4645_4646insAGC; p.Q1548_P1549insQ; 4:105275155-105275156 |
lung | carcinoma; adenocarcinoma | Insertion - In frame |
c.3343delC; p.P1115fs*2; 4:105237285-105237285 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5612T>G; p.I1871S; 4:105276122-105276122 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.652G>A; p.V218M; 4:105234594-105234594 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.375delC; p.F125fs*3; 4:105234317-105234317 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.(1060_1062)insA; p.(S354_G355)fs*?; 4:105235003-105235004 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4600C>T; p.Q1534*; 4:105275110-105275110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4600C>T; p.Q1534*; 4:105275110-105275110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.4497_4500delAAAA; p.Q1501fs*69; 4:105272878-105272881 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4600C>T; p.Q1534*; 4:105275110-105275110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.373delT; p.F125fs*3; 4:105234315-105234315 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1800G>A; p.M600I; 4:105235742-105235742 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3088_3088delC; p.Q1030fs*3; 4:105237030-105237030 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.4853_4854insA; p.Y1618fs*1; 4:105275363-105275364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3980A>C; p.Q1327P; 4:105261784-105261784 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1925A>G; p.Q642R; 4:105235867-105235867 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2230C>T; p.Q744*; 4:105236172-105236172 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3686T>G; p.L1229R; 4:105243661-105243661 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3480_3481insA; p.R1161fs*13; 4:105241409-105241410 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2578C>T; p.Q860*; 4:105236520-105236520 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2230C>T; p.Q744*; 4:105236172-105236172 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.368_368delG; p.R123fs*5; 4:105234310-105234310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1037T>C; p.L346P; 4:105234979-105234979 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Missense |
c.2230C>T; p.Q744*; 4:105236172-105236172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Nonsense |
c.3763_3767delTACGG; p.Y1255fs*11; 4:105243738-105243742 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1037T>C; p.L346P; 4:105234979-105234979 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Missense |
c.4072T>C; p.C1358R; 4:105269637-105269637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4853_4854insA; p.Y1618fs*1; 4:105275363-105275364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2230C>T; p.Q744*; 4:105236172-105236172 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2765_2766insTT; p.N923fs*31; 4:105236707-105236708 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.3523A>G; p.I1175V; 4:105242856-105242856 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2230C>T; p.Q744*; 4:105236172-105236172 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.444_445insA; p.E149fs*13; 4:105234386-105234387 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.264T>C; p.C88C; 4:105234206-105234206 |
breast | carcinoma | Substitution - coding silent |
c.1037_1038insAGCT; p.G349fs*3; 4:105234979-105234980 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1973_1974delAC; p.H658fs*22; 4:105235915-105235916 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1285G>A; p.G429R; 4:105235227-105235227 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3438delT; p.Y1148fs*4; 4:105241367-105241367 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2918_2919insG; p.C973fs*3; 4:105236860-105236861 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4352G>A; p.R1451Q; 4:105272733-105272733 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3409_3409+1insT; p.?; 4:105237351-105237352 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.3667_3667delG; p.A1223fs*3; 4:105243642-105243642 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3965_3966insA; p.E1323fs*16; 4:105261769-105261770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.2604_2605insT; p.P869fs*3; 4:105236546-105236547 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.4160A>T; p.N1387I; 4:105269725-105269725 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.944delC; p.Q317fs*30; 4:105234886-105234886 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.5010_5011insA; p.S1671fs*16; 4:105275520-105275521 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4549_4550insT; p.S1518fs*60; 4:105275059-105275060 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3851C>T; p.S1284F; 4:105259666-105259666 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2073T>G; p.T691T; 4:105236015-105236015 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.5473C>T; p.Q1825*; 4:105275983-105275983 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Substitution - Nonsense |
c.3851C>T; p.S1284F; 4:105259666-105259666 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5473C>T; p.Q1825*; 4:105275983-105275983 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4352G>A; p.R1451Q; 4:105272733-105272733 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3965_3966insA; p.E1323fs*16; 4:105261769-105261770 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.3858delT; p.F1287fs*76; 4:105259673-105259673 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1261G>T; p.E421*; 4:105235203-105235203 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.944delC; p.Q317fs*30; 4:105234886-105234886 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3685C>A; p.L1229I; 4:105243660-105243660 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4076G>A; p.R1359H; 4:105269641-105269641 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.695A>G; p.Q232R; 4:105234637-105234637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3641G>A; p.R1214Q; 4:105243616-105243616 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4076G>A; p.R1359H; 4:105269641-105269641 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.25G>A; p.V9I; 4:105233967-105233967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2441delG; p.R814fs*10; 4:105236383-105236383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_neutrophilic_leukaemia | Deletion - Frameshift |
c.4108G>T; p.G1370W; 4:105269673-105269673 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4662_4663delAG; p.E1555fs*22; 4:105275172-105275173 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1169_1169delA; p.D390fs*37; 4:105235111-105235111 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4825_4844del20; p.L1609fs*45; 4:105275335-105275354 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.1471_1471delC; p.Q491fs*6; 4:105235413-105235413 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2638delC; p.H880fs*41; 4:105236580-105236580 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2344G>T; p.E782*; 4:105236286-105236286 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.4076G>A; p.R1359H; 4:105269641-105269641 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4478_4478delA; p.K1493fs*78; 4:105272859-105272859 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.519_519delG; p.P174fs*9; 4:105234461-105234461 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2095_2096ins42; p.L699fs*1; 4:105236037-105236038 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2795A>G; p.D932G; 4:105236737-105236737 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.4579C>T; p.Q1527*; 4:105275089-105275089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4240C>G; p.Q1414E; 4:105272621-105272621 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3426_3426delA; p.D1143fs*9; 4:105241355-105241355 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.4661_4664delCAGA; p.T1554fs*16; 4:105275171-105275174 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5897G>A; p.R1966H; 4:105276407-105276407 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2706delA; p.N903fs*18; 4:105236648-105236648 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2966C>T; p.P989L; 4:105236908-105236908 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5696T>C; p.L1899P; 4:105276206-105276206 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3609C>G; p.S1203R; 4:105243584-105243584 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3609C>G; p.S1203R; 4:105243584-105243584 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.650delC; p.V218fs*32; 4:105234592-105234592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3489_3498CATGGAAGAA>TAAGGT; p.M1164fs*61; 4:105241418-105241427 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.4241A>G; p.Q1414R; 4:105272622-105272622 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.650delC; p.V218fs*32; 4:105234592-105234592 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2440C>T; p.R814C; 4:105236382-105236382 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2440C>T; p.R814C; 4:105236382-105236382 |
pancreas | carcinoma | Substitution - Missense |
c.4256C>G; p.P1419R; 4:105272637-105272637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4572_4572G>CT; p.Q1524fs*54; 4:105275082-105275082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Complex - frameshift |
c.5203G>T; p.G1735*; 4:105275713-105275713 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2440C>T; p.R814C; 4:105236382-105236382 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.4256C>G; p.P1419R; 4:105272637-105272637 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.1815delC; p.Y605fs*1; 4:105235757-105235757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3857C>G; p.S1286C; 4:105259672-105259672 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2639A>G; p.H880R; 4:105236581-105236581 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.998_998delC; p.P333fs*14; 4:105234940-105234940 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.941_942insG; p.C314fs*17; 4:105234883-105234884 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3808A>C; p.T1270P; 4:105259623-105259623 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.2289C>T; p.P763P; 4:105236231-105236231 |
skin | malignant_melanoma | Substitution - coding silent |
c.4256C>G; p.P1419R; 4:105272637-105272637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4256C>G; p.P1419R; 4:105272637-105272637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3315_3316delAG; p.E1106fs*23; 4:105237257-105237258 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4402_4403delAA; p.K1468fs*9; 4:105272783-105272784 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4240C>T; p.Q1414*; 4:105272621-105272621 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.684A>C; p.K228N; 4:105234626-105234626 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.787_787delG; p.E263fs*30; 4:105234729-105234729 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Deletion - Frameshift |
c.4240C>T; p.Q1414*; 4:105272621-105272621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4240C>T; p.Q1414*; 4:105272621-105272621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1336_1337delTT; p.L446fs*8; 4:105235278-105235279 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.839_840insT; p.N281fs*1; 4:105234781-105234782 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.3619G>C; p.E1207Q; 4:105243594-105243594 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2914T>G; p.S972A; 4:105236856-105236856 |
prostate | adenoma | Substitution - Missense |
c.4062delA; p.A1355fs*8; 4:105269627-105269627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.3820C>T; p.Q1274*; 4:105259635-105259635 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4667C>A; p.S1556Y; 4:105275177-105275177 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.4062delA; p.A1355fs*8; 4:105269627-105269627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.5253_5254insT; p.K1752fs*1; 4:105275763-105275764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.4044+2_4044+3insT; p.?; 4:105261850-105261851 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.3820C>T; p.Q1274*; 4:105259635-105259635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1802_1802delC; p.S602fs*37; 4:105235744-105235744 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4044+2_4044+3insT; p.?; 4:105261850-105261851 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Unknown |
c.3820C>T; p.Q1274*; 4:105259635-105259635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Substitution - Nonsense |
c.3195G>C; p.L1065F; 4:105237137-105237137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4062delA; p.A1355fs*8; 4:105269627-105269627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2088_2089insCA; p.P697fs*4; 4:105236030-105236031 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.3275_3275delC; p.P1092fs*14; 4:105237217-105237217 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4807C>T; p.Q1603*; 4:105275317-105275317 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4044+2_4044+3insT; p.?; 4:105261850-105261851 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.4807C>T; p.Q1603*; 4:105275317-105275317 |
breast | carcinoma | Substitution - Nonsense |
c.4136C>T; p.A1379V; 4:105269701-105269701 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4983T>A; p.Y1661*; 4:105275493-105275493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3528_3528delG; p.I1177fs*49; 4:105242861-105242861 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1021C>T; p.Q341*; 4:105234963-105234963 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4075C>T; p.R1359C; 4:105269640-105269640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1635C>T; p.D545D; 4:105235577-105235577 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.507_508delTA; p.H169fs*6; 4:105234449-105234450 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Deletion - Frameshift |
c.4075C>T; p.R1359C; 4:105269640-105269640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2153delT; p.L719fs*32; 4:105236095-105236095 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1267A>T; p.K423*; 4:105235209-105235209 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3851delC; p.F1285fs*78; 4:105259666-105259666 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3581C>T; p.P1194L; 4:105242914-105242914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4642C>T; p.Q1548*; 4:105275152-105275152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera | Substitution - Nonsense |
c.1645_1645delA; p.T549fs*12; 4:105235587-105235587 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3578G>A; p.C1193Y; 4:105242911-105242911 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.600_601insT; p.K201fs*1; 4:105234542-105234543 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4642C>T; p.Q1548*; 4:105275152-105275152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4075C>T; p.R1359C; 4:105269640-105269640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.4075C>T; p.R1359C; 4:105269640-105269640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.4075C>T; p.R1359C; 4:105269640-105269640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera | Substitution - Missense |
c.1996_1997delGA; p.D666fs*14; 4:105235938-105235939 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.3337_3346del10; p.D1113fs*1; 4:105237279-105237288 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.3278_3281delCCAA; p.T1093fs*12; 4:105237220-105237223 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemia_of_ambiguous_lineage | Deletion - Frameshift |
c.3921_3921delG; p.K1308fs*55; 4:105259736-105259736 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1888A>T; p.K630*; 4:105235830-105235830 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.5605G>T; p.G1869W; 4:105276115-105276115 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.4071_4071delG; p.E1357fs*6; 4:105269636-105269636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3927T>G; p.F1309L; 4:105259742-105259742 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1411_1412insA; p.S471fs*8; 4:105235353-105235354 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.1318C>T; p.Q440*; 4:105235260-105235260 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5235_5239delCAATC; p.N1746fs*5; 4:105275745-105275749 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.4599_4600delGC; p.Q1534fs*43; 4:105275109-105275110 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.2351_2352insA; p.C784fs*1; 4:105236293-105236294 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.274G>A; p.G92R; 4:105234216-105234216 |
skin | malignant_melanoma | Substitution - Missense |
c.2048_2082del35; p.F683fs*17; 4:105235990-105236024 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.397delC; p.P133fs*12; 4:105234339-105234339 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5449C>A; p.H1817N; 4:105275959-105275959 |
haematopoietic_and_lymphoid_tissue | other; splanchnic_vein_thrombosis | Substitution - Missense |
c.2392G>T; p.E798*; 4:105236334-105236334 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2626C>T; p.Q876*; 4:105236568-105236568 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2626C>T; p.Q876*; 4:105236568-105236568 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3748G>T; p.E1250*; 4:105243723-105243723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3748G>T; p.E1250*; 4:105243723-105243723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3866delG; p.C1289fs*74; 4:105259681-105259681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.3301C>A; p.L1101I; 4:105237243-105237243 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3546_3547insC; p.T1183fs*3; 4:105242879-105242880 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3680T>A; p.V1227E; 4:105243655-105243655 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.268C>T; p.Q90*; 4:105234210-105234210 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.5449C>A; p.H1817N; 4:105275959-105275959 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.5128_5131delACCA; p.T1710fs*8; 4:105275638-105275641 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5416C>T; p.H1806Y; 4:105275926-105275926 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.3995T>C; p.L1332P; 4:105261799-105261799 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2475_2475delA; p.S826fs*15; 4:105236417-105236417 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.(5187_5190)del1; p.D1730fs*15; 4:105275698-105275698 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4537+49T>C; p.?; 4:105272967-105272967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.983delT; p.F329fs*18; 4:105234925-105234925 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.433A>T; p.S145C; 4:105234375-105234375 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4266_4266delA; p.V1423fs*25; 4:105272647-105272647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.5651C>T; p.T1884I; 4:105276161-105276161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1663C>T; p.P555S; 4:105235605-105235605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5587G>A; p.A1863T; 4:105276097-105276097 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1954_1954delC; p.Q652fs*48; 4:105235896-105235896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Deletion - Frameshift |
c.3412_3413insAAAT; p.I1140fs*3; 4:105241341-105241342 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2280_2280delT; p.P761fs*52; 4:105236222-105236222 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3863G>T; p.G1288V; 4:105259678-105259678 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4990C>T; p.Q1664*; 4:105275500-105275500 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3863G>T; p.G1288V; 4:105259678-105259678 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2198_2199insT; p.Q734fs*20; 4:105236140-105236141 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Insertion - Frameshift |
c.3157C>T; p.Q1053*; 4:105237099-105237099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.565_565delA; p.S189fs*18; 4:105234507-105234507 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3594+3A>G; p.?; 4:105242930-105242930 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.4019T>G; p.L1340R; 4:105261823-105261823 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.565_565delA; p.S189fs*18; 4:105234507-105234507 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1837_1838insG; p.L615fs*23; 4:105235779-105235780 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2088C>T; p.S696S; 4:105236030-105236030 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3157C>T; p.Q1053*; 4:105237099-105237099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3045C>T; p.S1015S; 4:105236987-105236987 |
liver | carcinoma | Substitution - coding silent |
c.3157C>T; p.Q1053*; 4:105237099-105237099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3045C>T; p.S1015S; 4:105236987-105236987 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.1894C>T; p.Q632*; 4:105235836-105235836 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3048_3048delT; p.C1016fs*17; 4:105236990-105236990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1717C>T; p.H573Y; 4:105235659-105235659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.4311_4312insA; p.R1440fs*38; 4:105272692-105272693 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5415C>T; p.N1805N; 4:105275925-105275925 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - coding silent |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5618T>C; p.I1873T; 4:105276128-105276128 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1747G>T; p.E583*; 4:105235689-105235689 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5619_5622delTGAG; p.E1874fs*12; 4:105276129-105276132 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5219T>G; p.L1740*; 4:105275729-105275729 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.355_356insATGG; p.E121fs*5; 4:105234297-105234298 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2450_2454delCCCCT; p.S817fs*2; 4:105236392-105236396 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1647_1648insA; p.R550fs*17; 4:105235589-105235590 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.1394C>T; p.P465L; 4:105235336-105235336 |
skin | malignant_melanoma | Substitution - Missense |
c.3692T>C; p.L1231P; 4:105243667-105243667 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4115C>T; p.T1372I; 4:105269680-105269680 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2839C>T; p.Q947*; 4:105236781-105236781 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.2362G>T; p.E788*; 4:105236304-105236304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2839C>T; p.Q947*; 4:105236781-105236781 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1924C>T; p.Q642*; 4:105235866-105235866 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.137C>T; p.P46L; 4:105234079-105234079 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.137C>T; p.P46L; 4:105234079-105234079 |
skin | malignant_melanoma | Substitution - Missense |
c.2362G>T; p.E788*; 4:105236304-105236304 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Nonsense |
c.5447T>G; p.L1816*; 4:105275957-105275957 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.558G>A; p.E186E; 4:105234500-105234500 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3692T>C; p.L1231P; 4:105243667-105243667 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.3715_3716delTC; p.L1240fs*2; 4:105243690-105243691 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4022C>A; p.A1341E; 4:105261826-105261826 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4862delT; p.L1622fs*1; 4:105275372-105275372 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1924C>T; p.Q642*; 4:105235866-105235866 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4188C>G; p.C1396W; 4:105272569-105272569 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4730_4731delGT; p.S1577fs*36; 4:105275240-105275241 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2650_2651insC; p.Q884fs*17; 4:105236592-105236593 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.4375G>T; p.E1459*; 4:105272756-105272756 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1834C>T; p.P612S; 4:105235776-105235776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1793_1793delA; p.N598fs*3; 4:105235735-105235735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2310_2311insAG; p.G773fs*41; 4:105236252-105236253 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.4327_4328insC; p.I1444fs*34; 4:105272708-105272709 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.5381_5385delCTAAT; p.A1794fs*10; 4:105275891-105275895 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.1660C>T; p.P554S; 4:105235602-105235602 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3593delG; p.V1199fs*27; 4:105242926-105242926 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1882G>A; p.E628K; 4:105235824-105235824 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2535_2536insT; p.E846fs*1; 4:105236477-105236478 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4783A>G; p.M1595V; 4:105275293-105275293 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1173C>T; p.S391S; 4:105235115-105235115 |
skin | malignant_melanoma | Substitution - coding silent |
c.5675_5676insA; p.N1892fs*14; 4:105276185-105276186 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3448_3448delC; p.H1150fs*2; 4:105241377-105241377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.967C>T; p.Q323*; 4:105234909-105234909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3656A>T; p.H1219L; 4:105243631-105243631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1236_1243delTCCACAGG; p.P413fs*27; 4:105235178-105235185 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5650A>G; p.T1884A; 4:105276160-105276160 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1226_1229delCTCC; p.P409fs*17; 4:105235168-105235171 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.5831C>T; p.S1944F; 4:105276341-105276341 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.5619_5619delT; p.I1873fs*14; 4:105276129-105276129 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3535A>G; p.R1179G; 4:105242868-105242868 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5831C>T; p.S1944F; 4:105276341-105276341 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3430G>A; p.E1144K; 4:105241359-105241359 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3813_3813delC; p.C1271fs*92; 4:105259628-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1528G>T; p.E510*; 4:105235470-105235470 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2443_2444insAT; p.R815fs*10; 4:105236385-105236386 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3813_3813delC; p.C1271fs*92; 4:105259628-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2438_2439insAA; p.N813fs*12; 4:105236380-105236381 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2113C>T; p.Q705*; 4:105236055-105236055 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.5838_5839insA; p.V1949fs*7; 4:105276348-105276349 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2149_2150insA; p.H717fs*6; 4:105236091-105236092 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2201A>G; p.Q734R; 4:105236143-105236143 |
liver | carcinoma | Substitution - Missense |
c.651_651delC; p.V218fs*32; 4:105234593-105234593 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.651_651delC; p.V218fs*32; 4:105234593-105234593 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.2097G>A; p.L699L; 4:105236039-105236039 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3845G>A; p.G1282D; 4:105259660-105259660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2149_2150insA; p.H717fs*6; 4:105236091-105236092 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3844G>C; p.G1282R; 4:105259659-105259659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.5665_5670delCCCAAT; p.P1889_N1890del; 4:105276175-105276180 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.3845G>A; p.G1282D; 4:105259660-105259660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1782_1782delC; p.N595fs*6; 4:105235724-105235724 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.1864C>T; p.Q622*; 4:105235806-105235806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.5447T>A; p.L1816*; 4:105275957-105275957 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1864C>T; p.Q622*; 4:105235806-105235806 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.651_651delC; p.V218fs*32; 4:105234593-105234593 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2305_2305delC; p.Q769fs*44; 4:105236247-105236247 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5608T>C; p.S1870P; 4:105276118-105276118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1864C>T; p.Q622*; 4:105235806-105235806 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1864C>T; p.Q622*; 4:105235806-105235806 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Substitution - Nonsense |
c.1876C>G; p.Q626E; 4:105235818-105235818 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5127T>A; p.C1709*; 4:105275637-105275637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.5456_5457insGGGAC; p.S1820fs*15; 4:105275966-105275967 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3895_3896insT; p.K1299fs*12; 4:105259710-105259711 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1836_1837insG; p.L615fs*23; 4:105235778-105235779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.4225A>T; p.K1409*; 4:105272606-105272606 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4154_4155insT; p.L1385fs*16; 4:105269719-105269720 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2063A>G; p.D688G; 4:105236005-105236005 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3364_3365insCT; p.P1123fs*15; 4:105237306-105237307 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.3119_3120insA; p.F1041fs*2; 4:105237061-105237062 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.336G>A; p.L112L; 4:105234278-105234278 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1441C>T; p.Q481*; 4:105235383-105235383 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.3409+1G>T; p.?; 4:105237352-105237352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.973C>T; p.Q325*; 4:105234915-105234915 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3818G>C; p.C1273S; 4:105259633-105259633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2171_2172delAT; p.H724fs*29; 4:105236113-105236114 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4148_4148delG; p.R1383fs*65; 4:105269713-105269713 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1214T>G; p.L405R; 4:105235156-105235156 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.4193_4194insT; p.T1399fs*2; 4:105272574-105272575 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.2504C>A; p.S835*; 4:105236446-105236446 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3818G>C; p.C1273S; 4:105259633-105259633 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1441C>T; p.Q481*; 4:105235383-105235383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.973C>T; p.Q325*; 4:105234915-105234915 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2818_2818delA; p.T940fs*13; 4:105236760-105236760 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3409+1G>T; p.?; 4:105237352-105237352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Unknown |
c.2293A>G; p.S765G; 4:105236235-105236235 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2269delC; p.L757fs*56; 4:105236211-105236211 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4541delT; p.L1515fs*56; 4:105275051-105275051 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4048G>C; p.E1350Q; 4:105269613-105269613 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3237_3237A>CCC; p.A1080fs*3; 4:105237179-105237179 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.?; p.H1904?; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.4541delT; p.L1515fs*56; 4:105275051-105275051 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.5401C>T; p.L1801F; 4:105275911-105275911 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2632C>A; p.L878I; 4:105236574-105236574 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1379delC; p.Q461fs*25; 4:105235321-105235321 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2551delC; p.P851fs*22; 4:105236493-105236493 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2743G>C; p.A915P; 4:105236685-105236685 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3508_3508delC; p.Q1170fs*56; 4:105242841-105242841 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.945_945delC; p.Q317fs*30; 4:105234887-105234887 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.762_765delTCAG; p.S254fs*38; 4:105234704-105234707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.4018_4019insT; p.A1341fs*3; 4:105261822-105261823 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3102_3103insT; p.H1036fs*7; 4:105237044-105237045 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4260_4264ATACA>GTC; p.Y1421fs*4; 4:105272641-105272645 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.4258_4264delTTATACA; p.L1420fs*26; 4:105272639-105272645 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2551delC; p.P851fs*22; 4:105236493-105236493 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4258_4264delTTATACA; p.L1420fs*26; 4:105272639-105272645 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3863G>A; p.G1288D; 4:105259678-105259678 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3863G>A; p.G1288D; 4:105259678-105259678 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.945_945delC; p.Q317fs*30; 4:105234887-105234887 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.490_491delAC; p.T164fs*6; 4:105234432-105234433 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4133G>T; p.C1378F; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5735A>C; p.H1912P; 4:105276245-105276245 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.2441G>A; p.R814H; 4:105236383-105236383 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2692G>T; p.G898*; 4:105236634-105236634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3569C>A; p.S1190Y; 4:105242902-105242902 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.260A>C; p.K87T; 4:105234202-105234202 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4898_4899insG; p.C1633fs*28; 4:105275408-105275409 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5921G>T; p.R1974M; 4:105276431-105276431 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2209_2210insA; p.H737fs*17; 4:105236151-105236152 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1677T>A; p.Y559*; 4:105235619-105235619 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4854C>G; p.Y1618*; 4:105275364-105275364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3569C>A; p.S1190Y; 4:105242902-105242902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.803C>G; p.S268W; 4:105234745-105234745 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3787T>C; p.C1263R; 4:105243762-105243762 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.2692G>T; p.G898*; 4:105236634-105236634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.4193T>C; p.L1398P; 4:105272574-105272574 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Missense |
c.2950G>T; p.E984*; 4:105236892-105236892 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2692G>T; p.G898*; 4:105236634-105236634 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_myeloproliferative_neoplasm | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.1648C>T; p.R550*; 4:105235590-105235590 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.2033G>A; p.G678D; 4:105235975-105235975 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4193T>C; p.L1398P; 4:105272574-105272574 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2804_2805delGA; p.G935fs*36; 4:105236746-105236747 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5142T>G; p.N1714K; 4:105275652-105275652 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3646C>T; p.R1216*; 4:105243621-105243621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4167_4168insGA; p.N1390fs*59; 4:105269732-105269733 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.590_591insC; p.V198fs*4; 4:105234532-105234533 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3344C>A; p.P1115H; 4:105237286-105237286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1572G>A; p.E524E; 4:105235514-105235514 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4139A>G; p.H1380R; 4:105269704-105269704 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2604_2604delT; p.P869fs*4; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3347_3348insA; p.N1118fs*12; 4:105237289-105237290 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.2284C>T; p.H762Y; 4:105236226-105236226 |
skin | malignant_melanoma | Substitution - Missense |
c.2604_2604delT; p.P869fs*4; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Deletion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3453_3454insA; p.G1152fs*5; 4:105241382-105241383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.369_370insT; p.N124fs*1; 4:105234311-105234312 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2604_2604delT; p.P869fs*4; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3808A>G; p.T1270A; 4:105259623-105259623 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Nonsense |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.(3893_3897)delG; p.(C1298_K1299)fs*?; 4:105259708-105259708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.2374_2375insC; p.S794fs*8; 4:105236316-105236317 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Insertion - Frameshift |
c.2746C>T; p.Q916*; 4:105236688-105236688 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3790G>C; p.A1264P; 4:105243765-105243765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3811_3812insT; p.C1271fs*29; 4:105259626-105259627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2601T>A; p.Y867*; 4:105236543-105236543 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5374C>T; p.H1792Y; 4:105275884-105275884 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.4853_4856delACCC; p.Y1618fs*4; 4:105275363-105275366 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.2200C>T; p.Q734*; 4:105236142-105236142 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.5111_5112insA; p.D1704fs*9; 4:105275621-105275622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.1777C>T; p.Q593*; 4:105235719-105235719 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Nonsense |
c.5396_5397insA; p.M1800fs*6; 4:105275906-105275907 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Insertion - Frameshift |
c.2200C>T; p.Q734*; 4:105236142-105236142 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.4100C>A; p.P1367Q; 4:105269665-105269665 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.724G>T; p.V242L; 4:105234666-105234666 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.4735_4736insA; p.Y1579fs*1; 4:105275245-105275246 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2586_2587insG; p.H863fs*9; 4:105236528-105236529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1423_1423delA; p.M475fs*11; 4:105235365-105235365 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3594+2T>A; p.?; 4:105242929-105242929 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.4735_4736insA; p.Y1579fs*1; 4:105275245-105275246 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1399_1402delACAC; p.T467fs*18; 4:105235341-105235344 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1262delA; p.G422fs*5; 4:105235204-105235204 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2874G>A; p.Q958Q; 4:105236816-105236816 |
skin | malignant_melanoma | Substitution - coding silent |
c.2586_2587insG; p.H863fs*9; 4:105236528-105236529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2586_2587insG; p.H863fs*9; 4:105236528-105236529 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4527_4527delA; p.K1509fs*62; 4:105272908-105272909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5203_5213del11; p.G1735fs*1; 4:105275713-105275723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.4999_5006delCTGTCTAA; p.L1667fs*17; 4:105275509-105275516 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.847G>T; p.E283*; 4:105234789-105234789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3447C>A; p.T1149T; 4:105241376-105241376 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.712G>A; p.V238I; 4:105234654-105234654 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.847G>T; p.E283*; 4:105234789-105234789 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3708_3710delCCC; p.I1236_P1237>M; 4:105243683-105243685 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - deletion inframe |
c.495delT; p.S167fs*16; 4:105234437-105234437 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3979C>T; p.Q1327*; 4:105261783-105261783 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3854_3856delTCT; p.F1285del; 4:105259669-105259671 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - In frame |
c.4705_4706delTA; p.Y1569fs*8; 4:105275215-105275216 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3743T>C; p.L1248P; 4:105243718-105243718 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3743T>C; p.L1248P; 4:105243718-105243718 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4279G>T; p.D1427Y; 4:105272660-105272660 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.510delC; p.C171fs*12; 4:105234452-105234452 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3981_3982insA; p.N1328fs*11; 4:105261785-105261786 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Insertion - Frameshift |
c.4144C>T; p.H1382Y; 4:105269709-105269709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.452_453delTG; p.V151fs*10; 4:105234394-105234395 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1526C>G; p.S509*; 4:105235468-105235468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1526C>G; p.S509*; 4:105235468-105235468 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.4677delT; p.Y1560fs*11; 4:105275187-105275187 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1526C>G; p.S509*; 4:105235468-105235468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4471A>T; p.K1491*; 4:105272852-105272852 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.1526C>G; p.S509*; 4:105235468-105235468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4567C>T; p.Q1523*; 4:105275077-105275077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.1526C>G; p.S509*; 4:105235468-105235468 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.4567C>T; p.Q1523*; 4:105275077-105275077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.942T>A; p.C314*; 4:105234884-105234884 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4129T>A; p.F1377I; 4:105269694-105269694 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2638_2638delC; p.H880fs*41; 4:105236580-105236580 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3767G>A; p.G1256D; 4:105243742-105243742 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Substitution - Missense |
c.2599T>C; p.Y867H; 4:105236541-105236541 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.3287_3288delCA; p.T1096fs*7; 4:105237229-105237230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1680_1681insNN; p.K561fs*8; 4:105235622-105235623 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1903C>T; p.Q635*; 4:105235845-105235845 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.4532T>A; p.L1511*; 4:105272913-105272913 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3508C>T; p.Q1170*; 4:105242841-105242841 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4639C>T; p.Q1547*; 4:105275149-105275149 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5456T>G; p.L1819*; 4:105275966-105275966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.307C>G; p.L103V; 4:105234249-105234249 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2044_2045insC; p.H682fs*11; 4:105235986-105235987 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3508C>T; p.Q1170*; 4:105242841-105242841 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.5456T>G; p.L1819*; 4:105275966-105275966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5456T>G; p.L1819*; 4:105275966-105275966 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4510_4528del19; p.N1504fs*61; 4:105272891-105272909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4935T>G; p.Y1645*; 4:105275445-105275445 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5456T>G; p.L1819*; 4:105275966-105275966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3508C>T; p.Q1170*; 4:105242841-105242841 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.3431A>C; p.E1144A; 4:105241360-105241360 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.3108C>T; p.H1036H; 4:105237050-105237050 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4510_4528del19; p.N1504fs*61; 4:105272891-105272909 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1601G>C; p.R534T; 4:105235543-105235543 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.937_940delACCT; p.T313fs*33; 4:105234879-105234882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Deletion - Frameshift |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4678_4679insA; p.Y1560fs*1; 4:105275188-105275189 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4053T>G; p.Y1351*; 4:105269618-105269618 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.3182_3182delC; p.P1061fs*5; 4:105237124-105237124 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.3811T>G; p.C1271G; 4:105259626-105259626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1562G>A; p.S521N; 4:105235504-105235504 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3811T>G; p.C1271G; 4:105259626-105259626 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5645_5646delCC; p.A1882fs*9; 4:105276155-105276156 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2582_2582delA; p.N861fs*12; 4:105236524-105236524 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4490C>G; p.S1497*; 4:105272871-105272871 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4138C>T; p.H1380Y; 4:105269703-105269703 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.1763C>A; p.S588*; 4:105235705-105235705 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3527G>C; p.R1176T; 4:105242860-105242860 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.481_482insT; p.K161fs*10; 4:105234423-105234424 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1763C>A; p.S588*; 4:105235705-105235705 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3965T>A; p.L1322Q; 4:105261769-105261769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3965T>A; p.L1322Q; 4:105261769-105261769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1290_1291TT>G; p.L431fs*1; 4:105235232-105235233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Complex - frameshift |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.3965T>A; p.L1322Q; 4:105261769-105261769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.3965T>A; p.L1322Q; 4:105261769-105261769 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1763C>A; p.S588*; 4:105235705-105235705 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3965T>A; p.L1322Q; 4:105261769-105261769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3894_3895insT; p.K1299fs*1; 4:105259709-105259710 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.4249G>T; p.V1417F; 4:105272630-105272630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1276C>G; p.L426V; 4:105235218-105235218 |
breast | carcinoma | Substitution - Missense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1157_1157delT; p.V386fs*41; 4:105235099-105235099 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.403G>T; p.E135*; 4:105234345-105234345 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3954G>C; p.E1318D; 4:105259769-105259769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5890T>C; p.Y1964H; 4:105276400-105276400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5588C>A; p.A1863D; 4:105276098-105276098 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.971_971delA; p.Q324fs*23; 4:105234913-105234913 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4884T>G; p.Y1628*; 4:105275394-105275394 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2250_2253delAAAG; p.K751fs*61; 4:105236192-105236195 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue; skin | lymphoid_neoplasm; mycosis_fungoides-Sezary_syndrome | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4393C>T; p.R1465*; 4:105272774-105272774 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.5301_5301delT; p.S1767fs*53; 4:105275811-105275811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2290_2291insC; p.Q764fs*5; 4:105236232-105236233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.5999G>A; p.R2000K; 4:105276509-105276509 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_primary_myelofibrosis | Substitution - Missense |
c.1378_1378delT; p.S460fs*26; 4:105235320-105235320 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.3821A>G; p.Q1274R; 4:105259636-105259636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2290_2291insC; p.Q764fs*5; 4:105236232-105236233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.2290_2291insC; p.Q764fs*5; 4:105236232-105236233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2290_2291insC; p.Q764fs*5; 4:105236232-105236233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Insertion - Frameshift |
c.4884T>A; p.Y1628*; 4:105275394-105275394 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5713A>G; p.K1905E; 4:105276223-105276223 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2421delG; p.E808fs*5; 4:105236363-105236363 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4884T>A; p.Y1628*; 4:105275394-105275394 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3765C>G; p.Y1255*; 4:105243740-105243740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.3765C>G; p.Y1255*; 4:105243740-105243740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2290_2291insC; p.Q764fs*5; 4:105236232-105236233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1378_1378delT; p.S460fs*26; 4:105235320-105235320 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.2176C>T; p.Q726*; 4:105236118-105236118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2290_2291insC; p.Q764fs*5; 4:105236232-105236233 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.2147_2147delC; p.S716fs*35; 4:105236089-105236089 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.802T>G; p.S268A; 4:105234744-105234744 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.3409+2T>C; p.?; 4:105237353-105237353 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.3269_3269delA; p.K1090fs*16; 4:105237211-105237211 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3664G>T; p.E1222*; 4:105243639-105243639 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1378_1378delT; p.S460fs*26; 4:105235320-105235320 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.2428C>T; p.Q810*; 4:105236370-105236370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.5381C>G; p.A1794G; 4:105275891-105275891 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3356T>G; p.L1119*; 4:105237298-105237298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2428C>T; p.Q810*; 4:105236370-105236370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5018_5019delCA; p.P1674fs*12; 4:105275528-105275529 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2441_2441delG; p.R814fs*10; 4:105236383-105236383 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.44G>T; p.S15I; 4:105233986-105233986 |
skin | malignant_melanoma | Substitution - Missense |
c.3356T>G; p.L1119*; 4:105237298-105237298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2428C>T; p.Q810*; 4:105236370-105236370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1823_1823delA; p.N608fs*31; 4:105235765-105235765 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1557_1557delT; p.F519fs*14; 4:105235499-105235499 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3631T>C; p.C1211R; 4:105243606-105243606 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2428C>T; p.Q810*; 4:105236370-105236370 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.3169G>T; p.E1057*; 4:105237111-105237111 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3555_3555delA; p.E1186fs*40; 4:105242888-105242888 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3824G>A; p.G1275E; 4:105259639-105259639 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4824T>G; p.Y1608*; 4:105275334-105275334 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2227_2228insA; p.Q744fs*10; 4:105236169-105236170 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.4072T>G; p.C1358G; 4:105269637-105269637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5597_5608del12; p.T1867_S1870del; 4:105276107-105276118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - In frame |
c.285_285delA; p.K95fs*18; 4:105234227-105234227 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.4824T>G; p.Y1608*; 4:105275334-105275334 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4072T>G; p.C1358G; 4:105269637-105269637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5597_5608del12; p.T1867_S1870del; 4:105276107-105276118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - In frame |
c.?; p.?; 4:105269608-105269608 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.5711A>G; p.H1904R; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4317_4317delA; p.K1439fs*9; 4:105272698-105272698 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5711A>G; p.H1904R; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Missense |
c.2141C>A; p.S714*; 4:105236083-105236083 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2512A>G; p.T838A; 4:105236454-105236454 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5711A>G; p.H1904R; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.5059C>T; p.Q1687*; 4:105275569-105275569 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1568G>T; p.G523V; 4:105235510-105235510 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2141C>A; p.S714*; 4:105236083-105236083 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2007_2011delAAAAG; p.K670fs*9; 4:105235949-105235953 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1982A>G; p.H661R; 4:105235924-105235924 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.5711A>G; p.H1904R; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2641_2642insA; p.R881fs*20; 4:105236583-105236584 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.4208A>G; p.N1403S; 4:105272589-105272589 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.5711A>G; p.H1904R; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.5059C>T; p.Q1687*; 4:105275569-105275569 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.5711A>G; p.H1904R; 4:105276221-105276221 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2552_2552delC; p.P851fs*22; 4:105236494-105236494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5183_5184insCATG; p.E1728fs*13; 4:105275693-105275694 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3954+35T>G; p.?; 4:105259804-105259804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.5480_5480delA; p.K1827fs*6; 4:105275990-105275990 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5486_5486delC; p.P1829fs*4; 4:105275996-105275996 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3857_3858insTC; p.F1287fs*77; 4:105259672-105259673 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Insertion - Frameshift |
c.2824C>T; p.P942S; 4:105236766-105236766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.28G>C; p.E10Q; 4:105233970-105233970 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1240C>T; p.Q414*; 4:105235182-105235182 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3323_3323delC; p.P1108fs*5; 4:105237265-105237265 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Deletion - Frameshift |
c.1103delA; p.E368fs*4; 4:105235045-105235045 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1240C>T; p.Q414*; 4:105235182-105235182 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1678_1679insT; p.K561fs*6; 4:105235620-105235621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3160delG; p.V1054fs*1; 4:105237102-105237102 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3908G>A; p.S1303N; 4:105259723-105259723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3662G>A; p.C1221Y; 4:105243637-105243637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4133G>A; p.C1378Y; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.4133G>A; p.C1378Y; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3594+1G>T; p.?; 4:105242928-105242928 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.3866G>T; p.C1289F; 4:105259681-105259681 |
haematopoietic_and_lymphoid_tissue; skin | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.4133G>A; p.C1378Y; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2479G>A; p.A827T; 4:105236421-105236421 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.693delT; p.Q232fs*18; 4:105234635-105234635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1259C>G; p.S420*; 4:105235201-105235201 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3866G>T; p.C1289F; 4:105259681-105259681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4133G>A; p.C1378Y; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1259C>G; p.S420*; 4:105235201-105235201 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.324G>A; p.Q108Q; 4:105234266-105234266 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3626delT; p.L1209fs*17; 4:105243601-105243601 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3662G>A; p.C1221Y; 4:105243637-105243637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4133G>A; p.C1378Y; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1379C>T; p.S460F; 4:105235321-105235321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5036_5036delA; p.Y1679fs*16; 4:105275546-105275546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.5252_5252delA; p.Y1751fs*12; 4:105275762-105275762 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3866G>T; p.C1289F; 4:105259681-105259681 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1379C>T; p.S460F; 4:105235321-105235321 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5581G>A; p.G1861R; 4:105276091-105276091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2896C>T; p.Q966*; 4:105236838-105236838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5035_5036insT; p.Y1679fs*8; 4:105275545-105275546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.2246_2252delAATAAAG; p.Q752fs*59; 4:105236188-105236194 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.3890_3892delGAT; p.C1298del; 4:105259705-105259707 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic-myeloproliferative_neoplasm-unclassifiable | Deletion - In frame |
c.1735C>G; p.L579V; 4:105235677-105235677 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1061C>G; p.S354*; 4:105235003-105235003 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1061C>G; p.S354*; 4:105235003-105235003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1061C>G; p.S354*; 4:105235003-105235003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.5581G>A; p.G1861R; 4:105276091-105276091 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2896C>T; p.Q966*; 4:105236838-105236838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2896C>T; p.Q966*; 4:105236838-105236838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.3703G>A; p.G1235R; 4:105243678-105243678 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3778_3778delA; p.N1260fs*6; 4:105243753-105243753 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Deletion - Frameshift |
c.1061C>G; p.S354*; 4:105235003-105235003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2896C>T; p.Q966*; 4:105236838-105236838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2896C>T; p.Q966*; 4:105236838-105236838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2604T>G; p.F868L; 4:105236546-105236546 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4160A>G; p.N1387S; 4:105269725-105269725 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3202C>T; p.Q1068*; 4:105237144-105237144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3088C>T; p.Q1030*; 4:105237030-105237030 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.4537+2T>C; p.?; 4:105272920-105272920 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1463A>G; p.N488S; 4:105235405-105235405 |
skin | malignant_melanoma | Substitution - Missense |
c.2982_2983ins19; p.T995fs*20; 4:105236924-105236925 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2530_2533delAATA; p.N844fs*28; 4:105236472-105236475 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.3202C>T; p.Q1068*; 4:105237144-105237144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4214A>T; p.E1405V; 4:105272595-105272595 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3202C>T; p.Q1068*; 4:105237144-105237144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2571_2572insAAAC; p.T859fs*14; 4:105236513-105236514 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4178C>T; p.T1393I; 4:105269743-105269743 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4271_4271delC; p.S1424fs*24; 4:105272652-105272652 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2072_2087del16; p.E692fs*3; 4:105236014-105236029 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2089C>A; p.P697T; 4:105236031-105236031 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.5338_5338delC; p.L1780fs*40; 4:105275848-105275848 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.105G>A; p.Q35Q; 4:105234047-105234047 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2646C>A; p.C882*; 4:105236588-105236588 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.840_841insT; p.N281fs*1; 4:105234782-105234783 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.804G>A; p.S268S; 4:105234746-105234746 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2185C>T; p.Q729*; 4:105236127-105236127 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.427G>T; p.D143Y; 4:105234369-105234369 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.942_945delTTCC; p.S315fs*31; 4:105234884-105234887 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2375_2375delC; p.S792fs*1; 4:105236317-105236317 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3112_3121del10; p.K1038fs*14; 4:105237054-105237063 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.2646C>A; p.C882*; 4:105236588-105236588 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3448C>G; p.H1150D; 4:105241377-105241377 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.275G>A; p.G92E; 4:105234217-105234217 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.5839delA; p.V1949fs*1; 4:105276349-105276349 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2145_2146delCT; p.S716fs*6; 4:105236087-105236088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5283_5284delCA; p.I1762fs*3; 4:105275793-105275794 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3309_3310delTT; p.F1104fs*25; 4:105237251-105237252 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.329A>G; p.K110R; 4:105234271-105234271 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5603A>C; p.H1868P; 4:105276113-105276113 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5551G>T; p.E1851*; 4:105276061-105276061 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.4474G>A; p.E1492K; 4:105272855-105272855 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3629_3630delTG; p.C1211fs*11; 4:105243604-105243605 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.5681C>A; p.P1894H; 4:105276191-105276191 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4305G>T; p.Q1435H; 4:105272686-105272686 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1496_1496delC; p.P499fs*34; 4:105235438-105235438 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5298C>G; p.Y1766*; 4:105275808-105275808 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3823G>A; p.G1275R; 4:105259638-105259638 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.3763_3764insA; p.Y1255fs*1; 4:105243738-105243739 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.1439_1439delC; p.P480fs*6; 4:105235381-105235381 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3888T>C; p.N1296N; 4:105259703-105259703 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5506G>A; p.V1836M; 4:105276016-105276016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439_1439delC; p.P480fs*6; 4:105235381-105235381 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Deletion - Frameshift |
c.3888T>C; p.N1296N; 4:105259703-105259703 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3812G>A; p.C1271Y; 4:105259627-105259627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.3812G>A; p.C1271Y; 4:105259627-105259627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3812G>A; p.C1271Y; 4:105259627-105259627 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2546C>T; p.T849I; 4:105236488-105236488 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3501-2A>G; p.?; 4:105242832-105242832 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.3058_3059insA; p.Q1021fs*6; 4:105237000-105237001 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.4015A>T; p.K1339*; 4:105261819-105261819 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4303C>T; p.Q1435*; 4:105272684-105272684 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4303C>T; p.Q1435*; 4:105272684-105272684 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.434G>A; p.S145N; 4:105234376-105234376 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3769_3770insA; p.T1257fs*11; 4:105243744-105243745 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.3763_3764insT; p.Y1255fs*13; 4:105243738-105243739 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.3442_3443insT; p.Y1148fs*9; 4:105241371-105241372 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.4713_4714insA; p.R1572fs*6; 4:105275223-105275224 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.5482C>T; p.Q1828*; 4:105275992-105275992 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2003_2003delT; p.L668fs*32; 4:105235945-105235945 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2003_2003delT; p.L668fs*32; 4:105235945-105235945 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.1072A>G; p.S358G; 4:105235014-105235014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2144A>G; p.N715S; 4:105236086-105236086 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1110T>A; p.Y370*; 4:105235052-105235052 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4838_4839delAT; p.N1613fs*47; 4:105275348-105275349 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4736A>C; p.Y1579S; 4:105275246-105275246 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1061C>A; p.S354*; 4:105235003-105235003 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.1664_1665insC; p.T556fs*11; 4:105235606-105235607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4074C>T; p.C1358C; 4:105269639-105269639 |
pancreas | carcinoma | Substitution - coding silent |
c.1664_1665insC; p.T556fs*11; 4:105235606-105235607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5482C>T; p.Q1828*; 4:105275992-105275992 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1664_1665insC; p.T556fs*11; 4:105235606-105235607 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.1664_1665insC; p.T556fs*11; 4:105235606-105235607 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2870T>A; p.L957*; 4:105236812-105236812 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2024C>A; p.S675*; 4:105235966-105235966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2800G>T; p.G934*; 4:105236742-105236742 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.5038C>T; p.Q1680*; 4:105275548-105275548 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1478_1485delCAGGGACA; p.A493fs*8; 4:105235420-105235427 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5038C>T; p.Q1680*; 4:105275548-105275548 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.5060_5061delAG; p.S1688fs*4; 4:105275570-105275571 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4102T>C; p.F1368L; 4:105269667-105269667 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4462delA; p.N1489fs*82; 4:105272843-105272843 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5499delC; p.Q1834fs*53; 4:105276009-105276009 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4566_4567insG; p.Q1523fs*55; 4:105275076-105275077 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.3409+2T>G; p.?; 4:105237353-105237353 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.5038C>T; p.Q1680*; 4:105275548-105275548 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.2800G>T; p.G934*; 4:105236742-105236742 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5038C>T; p.Q1680*; 4:105275548-105275548 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4355_4356insA; p.V1454fs*24; 4:105272736-105272737 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.5060_5061delAG; p.S1688fs*4; 4:105275570-105275571 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.2024C>A; p.S675*; 4:105235966-105235966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3765C>A; p.Y1255*; 4:105243740-105243740 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1649G>A; p.R550Q; 4:105235591-105235591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3501-1G>A; p.?; 4:105242833-105242833 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.398_398delC; p.P133fs*12; 4:105234340-105234340 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.4447G>T; p.E1483*; 4:105272828-105272828 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1756_1757insT; p.P587fs*51; 4:105235698-105235699 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4936_4937ins50; p.L1646fs*66; 4:105275446-105275447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3821_3822delAG; p.Q1274fs*25; 4:105259636-105259637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3812_3813insG; p.C1271fs*29; 4:105259627-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2056A>T; p.R686*; 4:105235998-105235998 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3443A>G; p.Y1148C; 4:105241372-105241372 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.3809_3810insC; p.C1271fs*29; 4:105259624-105259625 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.2744C>T; p.A915V; 4:105236686-105236686 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3105_3106insG; p.H1036fs*7; 4:105237047-105237048 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3821_3822delAG; p.Q1274fs*25; 4:105259636-105259637 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3635_3635delT; p.L1212fs*14; 4:105243610-105243610 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3809_3810insC; p.C1271fs*29; 4:105259624-105259625 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_essential_thrombocythaemia | Insertion - Frameshift |
c.3821_3822delAG; p.Q1274fs*25; 4:105259636-105259637 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3997_3998insA; p.M1333fs*6; 4:105261801-105261802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.1988C>T; p.S663F; 4:105235930-105235930 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3809_3810insC; p.C1271fs*29; 4:105259624-105259625 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.1567G>C; p.G523R; 4:105235509-105235509 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.5081T>C; p.L1694S; 4:105275591-105275591 |
breast | carcinoma | Substitution - Missense |
c.5686A>G; p.R1896G; 4:105276196-105276196 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4426_4427delGC; p.A1476fs*1; 4:105272807-105272808 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1581_1581delC; p.D527fs*6; 4:105235523-105235523 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4624C>T; p.Q1542*; 4:105275134-105275134 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.4794T>A; p.Y1598*; 4:105275304-105275304 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1033_1036delAAGC; p.K345fs*1; 4:105234975-105234978 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3604A>T; p.R1202*; 4:105243579-105243579 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4481C>G; p.S1494*; 4:105272862-105272862 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5203G>A; p.G1735R; 4:105275713-105275713 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3820C>G; p.Q1274E; 4:105259635-105259635 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1219_1219delT; p.S407fs*20; 4:105235161-105235161 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.1776T>G; p.Y592*; 4:105235718-105235718 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5119_5120insGCAG; p.S1708fs*6; 4:105275629-105275630 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3893G>A; p.C1298Y; 4:105259708-105259708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.3243_3243delA; p.E1082fs*24; 4:105237185-105237185 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.383_384insCC; p.Q129fs*17; 4:105234325-105234326 |
liver | carcinoma | Insertion - Frameshift |
c.3722C>A; p.A1241D; 4:105243697-105243697 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3893G>A; p.C1298Y; 4:105259708-105259708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1945C>T; p.Q649*; 4:105235887-105235887 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2000_2001insGACCA; p.H667fs*35; 4:105235943-105235944 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3893G>A; p.C1298Y; 4:105259708-105259708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3616G>A; p.E1206K; 4:105243591-105243591 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4546C>T; p.R1516*; 4:105275056-105275056 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2533delA; p.E846fs*27; 4:105236475-105236475 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4210C>T; p.R1404*; 4:105272591-105272591 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.974_975delAA; p.K326fs*4; 4:105234916-105234917 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3893G>A; p.C1298Y; 4:105259708-105259708 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3782G>A; p.R1261H; 4:105243757-105243757 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3782G>A; p.R1261H; 4:105243757-105243757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1460G>T; p.R487M; 4:105235402-105235402 |
thyroid | other; neoplasm | Substitution - Missense |
c.4457C>G; p.S1486*; 4:105272838-105272838 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.4121G>A; p.C1374Y; 4:105269686-105269686 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3909C>A; p.S1303R; 4:105259724-105259724 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.?_?insT; p.?fs*?; 4:105275048-105275049 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.5687G>C; p.R1896T; 4:105276197-105276197 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3782G>A; p.R1261H; 4:105243757-105243757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1909_1911GAA>AT; p.E637fs*2; 4:105235851-105235853 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Complex - frameshift |
c.980C>T; p.S327L; 4:105234922-105234922 |
skin | malignant_melanoma | Substitution - Missense |
c.2236C>T; p.Q746*; 4:105236178-105236178 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1862delC; p.Q622fs*17; 4:105235804-105235804 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1632A>G; p.R544R; 4:105235574-105235574 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3461G>A; p.G1154D; 4:105241390-105241390 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3782G>A; p.R1261H; 4:105243757-105243757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3760A>T; p.K1254*; 4:105243735-105243735 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.980C>T; p.S327L; 4:105234922-105234922 |
skin | malignant_melanoma | Substitution - Missense |
c.4853_4854insTA; p.P1619fs*5; 4:105275363-105275364 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.2540_2543delAGAC; p.Q847fs*25; 4:105236482-105236485 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3532G>T; p.E1178*; 4:105242865-105242865 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4537+1G>A; p.?; 4:105272919-105272919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.2029_2030insT; p.C677fs*4; 4:105235971-105235972 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.3535_3536delAG; p.R1179fs*6; 4:105242868-105242869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2125G>A; p.E709K; 4:105236067-105236067 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.4183+2_4183+3insT; p.?; 4:105269749-105269750 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1001C>T; p.S334F; 4:105234943-105234943 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3404_3405insG; p.C1135fs*7; 4:105237346-105237347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.2984_2985insA; p.A996fs*13; 4:105236924-105236925 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3074_3074delT; p.I1025fs*8; 4:105237016-105237016 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.2797C>T; p.Q933*; 4:105236739-105236739 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.949C>A; p.Q317K; 4:105234891-105234891 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2125G>A; p.E709K; 4:105236067-105236067 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2025_2026insA; p.L676fs*5; 4:105235967-105235968 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3575G>T; p.G1192V; 4:105242908-105242908 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3281A>T; p.K1094I; 4:105237223-105237223 |
skin | malignant_melanoma | Substitution - Missense |
c.2116C>T; p.Q706*; 4:105236058-105236058 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3626T>C; p.L1209P; 4:105243601-105243601 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.?; p.E1845fs*42; 4:105276043-105276043 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.2116C>T; p.Q706*; 4:105236058-105236058 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.2116C>T; p.Q706*; 4:105236058-105236058 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1814_1815insA; p.Y605fs*1; 4:105235756-105235757 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3176C>G; p.S1059*; 4:105237118-105237118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.936_937insA; p.T313fs*18; 4:105234878-105234879 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.2497_2497delT; p.S833fs*8; 4:105236439-105236439 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4521delG; p.A1508fs*63; 4:105272902-105272902 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2368C>T; p.Q790*; 4:105236310-105236310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.3996_3997insA; p.M1333fs*6; 4:105261800-105261801 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.4130T>C; p.F1377S; 4:105269695-105269695 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4521delG; p.A1508fs*63; 4:105272902-105272902 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3996_3997insA; p.M1333fs*6; 4:105261800-105261801 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.4790_4791delTC; p.F1597fs*16; 4:105275300-105275301 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2368C>T; p.Q790*; 4:105236310-105236310 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1843_1844insC; p.L615fs*23; 4:105235785-105235786 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Insertion - Frameshift |
c.3947delC; p.P1316fs*47; 4:105259762-105259762 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.970C>T; p.Q324*; 4:105234912-105234912 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5412_5413insT; p.N1805fs*1; 4:105275922-105275923 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Insertion - Frameshift |
c.2147_2148delCA; p.H717fs*5; 4:105236089-105236090 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.1573C>A; p.L525I; 4:105235515-105235515 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.(4081_4082)G>A; p.G1361?; 4:105269646-105269646 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2656C>T; p.Q886*; 4:105236598-105236598 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4145A>G; p.H1382R; 4:105269710-105269710 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4060_4061delAG; p.R1354fs*46; 4:105269625-105269626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2355_2356insT; p.H786fs*3; 4:105236297-105236298 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.3491T>G; p.M1164R; 4:105241420-105241420 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1860C>G; p.Y620*; 4:105235802-105235802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2864_2865insA; p.H955fs*17; 4:105236806-105236807 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2656C>T; p.Q886*; 4:105236598-105236598 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.5751G>A; p.W1917*; 4:105276261-105276261 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5254A>T; p.K1752*; 4:105275764-105275764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4060_4061delAG; p.R1354fs*46; 4:105269625-105269626 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.412C>?; p.?; 4:105234354-105234354 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Unknown |
c.4894C>T; p.Q1632*; 4:105275404-105275404 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Nonsense |
c.2656C>T; p.Q886*; 4:105236598-105236598 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Nonsense |
c.1954C>T; p.Q652*; 4:105235896-105235896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1954C>T; p.Q652*; 4:105235896-105235896 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.375C>T; p.F125F; 4:105234317-105234317 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1954C>T; p.Q652*; 4:105235896-105235896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.1912A>G; p.M638V; 4:105235854-105235854 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5627C>T; p.A1876V; 4:105276137-105276137 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1954C>T; p.Q652*; 4:105235896-105235896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3210delT; p.A1071fs*11; 4:105237152-105237152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.685_686insA; p.T229fs*25; 4:105234627-105234628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.582C>A; p.D194E; 4:105234524-105234524 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1421C>T; p.P474L; 4:105235363-105235363 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1954C>T; p.Q652*; 4:105235896-105235896 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.5648C>T; p.T1883I; 4:105276158-105276158 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.865_865delG; p.A289fs*4; 4:105234807-105234807 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.685_686insA; p.T229fs*25; 4:105234627-105234628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1912A>G; p.M638V; 4:105235854-105235854 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Missense |
c.5720T>A; p.M1907K; 4:105276230-105276230 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2355_2355delT; p.H786fs*27; 4:105236297-105236297 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5283_5283delC; p.H1761fs*2; 4:105275793-105275793 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.220delG; p.V74fs*1; 4:105234162-105234162 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3525_3527delTAG; p.I1175_R1176>M; 4:105242858-105242860 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Complex - deletion inframe |
c.5046_5046delG; p.R1682fs*13; 4:105275556-105275556 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5541G>A; p.W1847*; 4:105276051-105276051 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.3489_3489delC; p.M1164fs*62; 4:105241418-105241418 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5541G>A; p.W1847*; 4:105276051-105276051 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3720delG; p.A1241fs*12; 4:105243695-105243695 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2191C>T; p.Q731*; 4:105236133-105236133 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.3894T>G; p.C1298W; 4:105259709-105259709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.4005_4009AACAT>TG; p.P1335_Y1337>D; 4:105261809-105261813 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - deletion inframe |
c.3139_3140insA; p.T1047fs*11; 4:105237081-105237082 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2490_2491insAATA; p.Q831fs*16; 4:105236432-105236433 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4908_4909ins58; p.S1638fs*42; 4:105275418-105275419 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5183_5187delAGATG; p.E1728fs*10; 4:105275693-105275697 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3985C>A; p.L1329M; 4:105261789-105261789 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331C>A; p.T444K; 4:105235273-105235273 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.5508_5509delGG; p.A1837fs*8; 4:105276018-105276019 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.722C>T; p.A241V; 4:105234664-105234664 |
liver | carcinoma | Substitution - Missense |
c.1249C>T; p.Q417*; 4:105235191-105235191 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.2474C>G; p.S825*; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2474C>G; p.S825*; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.5162T>A; p.L1721*; 4:105275672-105275672 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3788G>A; p.C1263Y; 4:105243763-105243763 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2272C>T; p.Q758*; 4:105236214-105236214 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.1177T>G; p.S393A; 4:105235119-105235119 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.644C>T; p.A215V; 4:105234586-105234586 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.5500C>T; p.Q1834*; 4:105276010-105276010 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5500C>T; p.Q1834*; 4:105276010-105276010 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2474C>G; p.S825*; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2557_2558insT; p.A855fs*17; 4:105236199-105236200 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.4566G>T; p.M1522I; 4:105275076-105275076 |
NS | malignant_melanoma | Substitution - Missense |
c.3500G>A; p.R1167K; 4:105241429-105241429 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.1422G>A; p.P474P; 4:105235364-105235364 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1013_1013delA; p.N338fs*9; 4:105234955-105234955 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5108_5109insG; p.D1704fs*9; 4:105275618-105275619 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2474C>G; p.S825*; 4:105236416-105236416 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3965T>G; p.L1322R; 4:105261769-105261769 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.2176_2179delCAGG; p.A727fs*23; 4:105236118-105236121 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3755delT; p.L1252fs*14; 4:105243730-105243730 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3548_3549delCT; p.T1183fs*2; 4:105242881-105242882 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.4191delT; p.L1398fs*50; 4:105272572-105272572 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3197delC; p.T1066fs*16; 4:105237139-105237139 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.5556delG; p.S1853fs*34; 4:105276066-105276066 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4150G>A; p.D1384N; 4:105269715-105269715 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4680delT; p.S1561fs*10; 4:105275190-105275190 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.1664_1664delC; p.P555fs*6; 4:105235606-105235606 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2147C>T; p.S716L; 4:105236089-105236089 |
breast | carcinoma | Substitution - Missense |
c.(1998_2001)insT; p.(H667_H668)fs*(13_14); 4:105235940-105235941 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.4715G>A; p.R1572Q; 4:105275225-105275225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4093_4094insAG; p.G1365fs*84; 4:105269658-105269659 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.305_307delCTC; p.S102_L103>F; 4:105234247-105234249 |
breast | carcinoma | Complex - deletion inframe |
c.?; p.?; 4:105242833-105242833 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.5087A>G; p.Y1696C; 4:105275597-105275597 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4140T>C; p.H1380H; 4:105269705-105269705 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1972_1972delC; p.H658fs*42; 4:105235914-105235914 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.3898T>A; p.F1300I; 4:105259713-105259713 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3202_3203insA; p.T1069fs*7; 4:105237144-105237145 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Insertion - Frameshift |
c.3813C>G; p.C1271W; 4:105259628-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3813C>G; p.C1271W; 4:105259628-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3813C>G; p.C1271W; 4:105259628-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3524T>A; p.I1175N; 4:105242857-105242857 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2862G>A; p.W954*; 4:105236804-105236804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1489A>T; p.T497S; 4:105235431-105235431 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.4052_4053insA; p.Y1351fs*1; 4:105269617-105269618 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Insertion - Frameshift |
c.2862G>A; p.W954*; 4:105236804-105236804 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.4133_4133delG; p.C1378fs*70; 4:105269698-105269698 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.3813C>G; p.C1271W; 4:105259628-105259628 |
bone; rib | chondrosarcoma | Substitution - Missense |
c.65C>T; p.P22L; 4:105234007-105234007 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5570_5580del11; p.P1857fs*14; 4:105276080-105276090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.3665A>G; p.E1222G; 4:105243640-105243640 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_leukaemic_transformation_of_polycythaemia_vera | Substitution - Missense |
c.3813C>G; p.C1271W; 4:105259628-105259628 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.5666C>G; p.P1889R; 4:105276176-105276176 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2165_2166insA; p.P723fs*3; 4:105236107-105236108 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.3160_3161insT; p.V1056fs*2; 4:105237102-105237103 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2320T>A; p.S774T; 4:105236262-105236262 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.3444T>A; p.Y1148*; 4:105241373-105241373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1223C>T; p.P408L; 4:105235165-105235165 |
skin | malignant_melanoma | Substitution - Missense |
c.2689delC; p.Q897fs*24; 4:105236631-105236631 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5250_5254delCTATA; p.D1750fs*4; 4:105275760-105275764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Deletion - Frameshift |
c.3444T>A; p.Y1148*; 4:105241373-105241373 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3444T>A; p.Y1148*; 4:105241373-105241373 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.4556_4557insACCA; p.V1521fs*58; 4:105275066-105275067 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.286C>T; p.R96C; 4:105234228-105234228 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2896_2897insTG; p.Q966fs*42; 4:105236838-105236839 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.961C>T; p.Q321*; 4:105234903-105234903 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4688C>T; p.S1563F; 4:105275198-105275198 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.3535_3536insA; p.R1179fs*7; 4:105242868-105242869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1299A>G; p.E433E; 4:105235241-105235241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1819G>T; p.G607*; 4:105235761-105235761 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.1397C>G; p.S466C; 4:105235339-105235339 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.4688C>T; p.S1563F; 4:105275198-105275198 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.4668_4669insT; p.V1557fs*21; 4:105275178-105275179 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1366G>A; p.E456K; 4:105235308-105235308 |
breast | carcinoma | Substitution - Missense |
c.466C>T; p.Q156*; 4:105234408-105234408 |
liver | carcinoma | Substitution - Nonsense |
c.1342_1342delG; p.E448fs*2; 4:105235284-105235284 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Deletion - Frameshift |
c.2509delA; p.N837fs*4; 4:105236451-105236451 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3535_3536insA; p.R1179fs*7; 4:105242868-105242869 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2715_2716insA; p.M906fs*18; 4:105236657-105236658 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Insertion - Frameshift |
c.3643G>T; p.E1215*; 4:105243618-105243618 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3205A>G; p.T1069A; 4:105237147-105237147 |
skin | malignant_melanoma | Substitution - Missense |
c.5666C>T; p.P1889L; 4:105276176-105276176 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.4865_4865delT; p.L1622fs*1; 4:105275375-105275375 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2332C>T; p.Q778*; 4:105236274-105236274 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.2715_2716insA; p.M906fs*18; 4:105236657-105236658 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Insertion - Frameshift |
c.5374_5374delC; p.H1792fs*28; 4:105275884-105275884 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.5666C>T; p.P1889L; 4:105276176-105276176 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_related | Substitution - Missense |
c.5569C>T; p.P1857S; 4:105276079-105276079 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.4594C>T; p.Q1532*; 4:105275104-105275104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5172T>G; p.Y1724*; 4:105275682-105275682 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2224C>T; p.Q742*; 4:105236166-105236166 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia_associated_with_MDS | Substitution - Nonsense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2252_2253insA; p.N752fs*2; 4:105236194-105236195 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4082G>A; p.G1361D; 4:105269647-105269647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1512A>T; p.K504N; 4:105235454-105235454 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2224C>T; p.Q742*; 4:105236166-105236166 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4082G>A; p.G1361D; 4:105269647-105269647 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.3443_3443delA; p.Y1148fs*4; 4:105241372-105241372 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3149C>A; p.S1050*; 4:105237091-105237091 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3737C>A; p.S1246*; 4:105243712-105243712 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; mast_cell_neoplasm | Substitution - Nonsense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | other; splanchnic_vein_thrombosis | Substitution - Missense |
c.5152G>T; p.V1718L; 4:105275662-105275662 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.822delC; p.N275fs*18; 4:105234764-105234764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.(3432_3434)insA; p.G1145fs*12; 4:105241361-105241362 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.822delC; p.N275fs*18; 4:105234764-105234764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.932delT; p.L311fs*36; 4:105234874-105234874 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.822delC; p.N275fs*18; 4:105234764-105234764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.5390_5390delT; p.L1797fs*23; 4:105275900-105275900 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4519C>T; p.Q1507*; 4:105272900-105272900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.2068C>T; p.Q690*; 4:105236010-105236010 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.822delC; p.N275fs*18; 4:105234764-105234764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2068C>T; p.Q690*; 4:105236010-105236010 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3545_3546insGAA; p.Y1182>*; 4:105242878-105242879 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.3762_3763insA; p.Y1255fs*13; 4:105243737-105243738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2068C>T; p.Q690*; 4:105236010-105236010 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3404G>A; p.C1135Y; 4:105237346-105237346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.3699G>A; p.W1233*; 4:105243674-105243674 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.1900_1901insTG; p.Y634fs*6; 4:105235842-105235843 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4832C>T; p.S1611F; 4:105275342-105275342 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3305_3306insA; p.N1102fs*2; 4:105237247-105237248 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.3955-2delA; p.?; 4:105261757-105261757 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.4139A>T; p.H1380L; 4:105269704-105269704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2920C>T; p.H974Y; 4:105236862-105236862 |
skin | malignant_melanoma | Substitution - Missense |
c.4977T>G; p.Y1659*; 4:105275487-105275487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4977T>G; p.Y1659*; 4:105275487-105275487 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Nonsense |
c.3001A>T; p.K1001*; 4:105236943-105236943 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.3954+2T>G; p.?; 4:105259771-105259771 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Unknown |
c.3589_3594delAAGTGG; p.K1197_W1198del; 4:105242922-105242927 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - In frame |
c.2861G>A; p.W954*; 4:105236803-105236803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Nonsense |
c.3341_3342insA; p.P1115fs*15; 4:105237283-105237284 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2578_2609del32; p.Q860fs*1; 4:105236520-105236551 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.4044+1G>T; p.?; 4:105261849-105261849 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.4816delG; p.G1606fs*4; 4:105275326-105275326 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3054_3066del13; p.N1018fs*11; 4:105236996-105237008 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2899_2899delC; p.Q967fs*40; 4:105236841-105236841 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.3861_3861delT; p.F1287fs*76; 4:105259676-105259676 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.3525_3525delT; p.R1176fs*50; 4:105242858-105242858 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.1593_1594insA; p.L532fs*35; 4:105235535-105235536 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.4825T>A; p.L1609M; 4:105275335-105275335 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4283_4283delA; p.E1428fs*20; 4:105272664-105272664 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.2887C>T; p.Q963*; 4:105236829-105236829 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Nonsense |
c.1646delC; p.T549fs*12; 4:105235588-105235588 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.304_305delTC; p.S104fs*15; 4:105234246-105234247 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2403_2404insT; p.V802fs*14; 4:105236345-105236346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.1578G>T; p.Q526H; 4:105235520-105235520 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.3539T>G; p.V1180G; 4:105242872-105242872 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4636C>T; p.Q1546*; 4:105275146-105275146 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2196_2197insT; p.S733fs*21; 4:105236138-105236139 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5540G>A; p.W1847*; 4:105276050-105276050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.4264_4265insTA; p.K1422fs*27; 4:105272645-105272646 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.5172delT; p.T1726fs*19; 4:105275682-105275682 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3873G>T; p.W1291C; 4:105259688-105259688 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.4760_4761insT; p.I1588fs*26; 4:105275270-105275271 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Insertion - Frameshift |
c.2020C>T; p.Q674*; 4:105235962-105235962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.4636C>T; p.Q1546*; 4:105275146-105275146 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.980_980delC; p.S327fs*1; 4:105234922-105234922 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2020C>T; p.Q674*; 4:105235962-105235962 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.767C>G; p.A256G; 4:105234709-105234709 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.5540G>A; p.W1847*; 4:105276050-105276050 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Nonsense |
c.459T>G; p.S153S; 4:105234401-105234401 |
pancreas | NS | Substitution - coding silent |
c.3825G>A; p.G1275G; 4:105259640-105259640 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.4767delT; p.Y1589fs*1; 4:105275277-105275277 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2391C>T; p.F797F; 4:105236333-105236333 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3409G>A; p.E1137K; 4:105237351-105237351 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.679G>T; p.E227*; 4:105234621-105234621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.3775_3776insGCTCA; p.T1259fs*9; 4:105243750-105243751 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.3409+1G>A; p.?; 4:105237352-105237352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2391C>T; p.F797F; 4:105236333-105236333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3409+1G>A; p.?; 4:105237352-105237352 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Unknown |
c.4150G>C; p.D1384H; 4:105269715-105269715 |
breast | carcinoma | Substitution - Missense |
c.2488_2489insA; p.I830fs*16; 4:105236430-105236431 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.4045-2A>G; p.?; 4:105269608-105269608 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Unknown |
c.2896_2897delCA; p.Q966fs*5; 4:105236838-105236839 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2911G>A; p.E971K; 4:105236853-105236853 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.3409+1G>A; p.?; 4:105237352-105237352 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Unknown |
c.2391C>T; p.F797F; 4:105236333-105236333 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5456_5456delT; p.L1819fs*1; 4:105275966-105275966 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.323A>T; p.Q108L; 4:105234265-105234265 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2747_2748insA; p.Q917fs*7; 4:105236689-105236690 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Insertion - Frameshift |
c.2848_2867del20; p.A950fs*15; 4:105236790-105236809 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4204_4204delG; p.D1402fs*46; 4:105272585-105272585 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Deletion - Frameshift |
c.3860T>C; p.F1287S; 4:105259675-105259675 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.1842_1842delG; p.L615fs*24; 4:105235784-105235784 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.4786delA; p.N1596fs*14; 4:105275296-105275296 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4269C>T; p.V1423V; 4:105272650-105272650 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1137_1138TT>C; p.Y380fs*47; 4:105235079-105235080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Complex - frameshift |
c.3064_3065delAA; p.K1022fs*4; 4:105237006-105237007 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Deletion - Frameshift |
c.3860T>C; p.F1287S; 4:105259675-105259675 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3305_3312delATAATTTT; p.N1103fs*24; 4:105237247-105237254 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Deletion - Frameshift |
c.5269_5269delC; p.H1757fs*6; 4:105275779-105275779 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.3578G>T; p.C1193F; 4:105242911-105242911 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Missense |
c.1588C>T; p.Q530*; 4:105235530-105235530 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.3578G>T; p.C1193F; 4:105242911-105242911 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.2161_2162delCA; p.H721fs*1; 4:105236103-105236104 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.3081_3081delC; p.M1028fs*5; 4:105237023-105237023 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Deletion - Frameshift |
c.2768_2769insCATA; p.H924fs*10; 4:105236710-105236711 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.822_822delC; p.N275fs*18; 4:105234764-105234764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myeloproliferative_neoplasm | Deletion - Frameshift |
c.3442T>C; p.Y1148H; 4:105241371-105241371 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.1355delA; p.E452fs*34; 4:105235297-105235297 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.2285_2286insC; p.Q764fs*5; 4:105236227-105236228 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Insertion - Frameshift |
c.3700G>T; p.E1234*; 4:105243675-105243675 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Nonsense |
c.3500+2T>C; p.?; 4:105241431-105241431 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.1588C>T; p.Q530*; 4:105235530-105235530 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Nonsense |
c.445G>T; p.E149*; 4:105234387-105234387 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.822_822delC; p.N275fs*18; 4:105234764-105234764 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Deletion - Frameshift |
c.3892T>G; p.C1298G; 4:105259707-105259707 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.1355delA; p.E452fs*34; 4:105235297-105235297 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Deletion - Frameshift |
c.2632delC; p.L878fs*43; 4:105236574-105236574 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.1796A>G; p.Q599R; 4:105235738-105235738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.1860C>A; p.Y620*; 4:105235802-105235802 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.1796A>G; p.Q599R; 4:105235738-105235738 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - Missense |
c.4070_4071delAG; p.E1357fs*43; 4:105269635-105269636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.4070_4071delAG; p.E1357fs*43; 4:105269635-105269636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.3010delA; p.K1005fs*2; 4:105236952-105236952 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Deletion - Frameshift |
c.4070_4071delAG; p.E1357fs*43; 4:105269635-105269636 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Deletion - Frameshift |
c.2703T>G; p.N901K; 4:105236645-105236645 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5752G>T; p.E1918*; 4:105276262-105276262 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia | Substitution - Nonsense |
c.5752G>T; p.E1918*; 4:105276262-105276262 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Nonsense |
c.2851G>T; p.A951S; 4:105236793-105236793 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3769_3770ins11; p.R1262fs*8; 4:105243744-105243745 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.1973A>C; p.H658P; 4:105235915-105235915 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |