| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 3673 | ||
Name | ITGA2 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2487G>T; p.L829L; 5:53073175-53073175 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3046G>T; p.D1016Y; 5:53081598-53081598 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.54G>T; p.A18A; 5:52989522-52989522 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2620G>C; p.V874L; 5:53074433-53074433 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2767G>A; p.D923N; 5:53075246-53075246 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.954C>T; p.N318N; 5:53056007-53056007 |
liver | carcinoma | Substitution - coding silent |
c.954C>T; p.N318N; 5:53056007-53056007 |
liver | carcinoma | Substitution - coding silent |
c.2680A>G; p.N894D; 5:53075076-53075076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1244G>A; p.G415D; 5:53059944-53059944 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2155G>T; p.E719*; 5:53070180-53070180 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3184T>C; p.L1062L; 5:53083379-53083379 |
skin | malignant_melanoma | Substitution - coding silent |
c.1319C>G; p.S440C; 5:53060907-53060907 |
oesophagus | carcinoma | Substitution - Missense |
c.2460C>T; p.N820N; 5:53073148-53073148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.576G>T; p.K192N; 5:53048716-53048716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.850G>A; p.G284S; 5:53055608-53055608 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.1920C>T; p.A640A; 5:53065954-53065954 |
skin | malignant_melanoma | Substitution - coding silent |
c.576G>T; p.K192N; 5:53048716-53048716 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3107C>T; p.S1036F; 5:53081659-53081659 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1220C>T; p.T407I; 5:53059920-53059920 |
skin | malignant_melanoma | Substitution - Missense |
c.759C>T; p.F253F; 5:53051539-53051539 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3116G>A; p.S1039N; 5:53081668-53081668 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3265T>C; p.F1089L; 5:53086958-53086958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.263C>A; p.S88Y; 5:53042189-53042189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1030G>T; p.V344L; 5:53056083-53056083 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1617G>A; p.Q539Q; 5:53064926-53064926 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1487G>C; p.C496S; 5:53062814-53062814 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1617G>A; p.Q539Q; 5:53064926-53064926 |
thyroid | carcinoma | Substitution - coding silent |
c.825G>A; p.T275T; 5:53055583-53055583 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.825G>A; p.T275T; 5:53055583-53055583 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.825G>A; p.T275T; 5:53055583-53055583 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1903G>A; p.D635N; 5:53065937-53065937 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1903G>A; p.D635N; 5:53065937-53065937 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.512C>T; p.S171F; 5:53048652-53048652 |
skin | malignant_melanoma | Substitution - Missense |
c.1421G>T; p.G474V; 5:53061009-53061009 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129G>A; p.R710K; 5:53070154-53070154 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1413T>C; p.N471N; 5:53061001-53061001 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1643G>A; p.G548D; 5:53064952-53064952 |
skin | malignant_melanoma | Substitution - Missense |
c.388-1G>A; p.?; 5:53048362-53048362 |
skin | malignant_melanoma | Unknown |
c.1685C>T; p.S562L; 5:53064994-53064994 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1685C>T; p.S562L; 5:53064994-53064994 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1253T>G; p.I418S; 5:53059953-53059953 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.835G>C; p.V279L; 5:53055593-53055593 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1838G>A; p.S613N; 5:53065872-53065872 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3161C>T; p.S1054F; 5:53083356-53083356 |
skin | malignant_melanoma | Substitution - Missense |
c.1648G>T; p.E550*; 5:53064957-53064957 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.446G>A; p.C149Y; 5:53048421-53048421 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.780-1G>T; p.?; 5:53055537-53055537 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2650A>C; p.K884Q; 5:53074463-53074463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3385G>A; p.E1129K; 5:53089982-53089982 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1863C>T; p.S621S; 5:53065897-53065897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.296-10C>T; p.?; 5:53044991-53044991 |
skin; leg | malignant_melanoma | Unknown |
c.927A>G; p.I309M; 5:53055685-53055685 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.296-10C>T; p.?; 5:53044991-53044991 |
skin; leg | malignant_melanoma | Unknown |
c.2118_2119insT; p.S708fs*11; 5:53070143-53070144 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2211C>T; p.C737C; 5:53070236-53070236 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1810A>C; p.I604L; 5:53065844-53065844 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1599+6delA; p.?; 5:53062932-53062932 |
central_nervous_system; thalamus | glioma; oligoastrocytoma_Grade_II | Unknown |
c.2670T>A; p.T890T; 5:53075066-53075066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1342G>C; p.E448Q; 5:53060930-53060930 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2530G>T; p.D844Y; 5:53073218-53073218 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1342G>C; p.E448Q; 5:53060930-53060930 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2258C>T; p.S753F; 5:53071960-53071960 |
skin | malignant_melanoma | Substitution - Missense |
c.1941C>T; p.L647L; 5:53065975-53065975 |
breast | carcinoma | Substitution - coding silent |
c.1910C>T; p.S637F; 5:53065944-53065944 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2332G>T; p.A778S; 5:53072034-53072034 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2919C>T; p.F973F; 5:53078865-53078865 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2629G>A; p.D877N; 5:53074442-53074442 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3482G>T; p.R1161I; 5:53090535-53090535 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.613G>C; p.G205R; 5:53048753-53048753 |
central_nervous_system; brain | atypical_teratoid-rhabdoid_tumour | Substitution - Missense |
c.2792C>T; p.P931L; 5:53075271-53075271 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3252C>T; p.F1084F; 5:53083447-53083447 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.3252C>T; p.F1084F; 5:53083447-53083447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1254C>T; p.I418I; 5:53059954-53059954 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3086G>T; p.G1029V; 5:53081638-53081638 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2747G>T; p.S916I; 5:53075226-53075226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1715T>A; p.V572E; 5:53065024-53065024 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375G>A; p.A459T; 5:53060963-53060963 |
bone; rib | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.572T>A; p.V191E; 5:53048712-53048712 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1207G>T; p.G403C; 5:53059907-53059907 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1633G>A; p.G545S; 5:53064942-53064942 |
skin | malignant_melanoma | Substitution - Missense |
c.1672A>C; p.I558L; 5:53064981-53064981 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1737A>G; p.E579E; 5:53065046-53065046 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.521A>C; p.D174A; 5:53048661-53048661 |
breast | carcinoma | Substitution - Missense |
c.3535C>T; p.L1179F; 5:53090588-53090588 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.718T>A; p.S240T; 5:53051498-53051498 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502+1G>A; p.?; 5:53048478-53048478 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3389T>C; p.V1130A; 5:53089986-53089986 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1569G>T; p.E523D; 5:53062896-53062896 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2755G>A; p.E919K; 5:53075234-53075234 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2755G>A; p.E919K; 5:53075234-53075234 |
skin | malignant_melanoma | Substitution - Missense |
c.3079A>G; p.K1027E; 5:53081631-53081631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2772T>A; p.N924K; 5:53075251-53075251 |
skin | malignant_melanoma | Substitution - Missense |
c.1448G>A; p.R483Q; 5:53061036-53061036 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.437C>T; p.T146M; 5:53048412-53048412 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.679A>G; p.N227D; 5:53051459-53051459 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2858C>T; p.S953L; 5:53078804-53078804 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2858C>T; p.S953L; 5:53078804-53078804 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.501G>A; p.Q167Q; 5:53048476-53048476 |
skin | malignant_melanoma | Substitution - coding silent |
c.1258C>G; p.P420A; 5:53059958-53059958 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2959G>A; p.A987T; 5:53080541-53080541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.697G>T; p.E233*; 5:53051477-53051477 |
autonomic_ganglia | neuroblastoma | Substitution - Nonsense |
c.3193G>A; p.V1065I; 5:53083388-53083388 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2138C>G; p.S713C; 5:53070163-53070163 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1612G>T; p.G538C; 5:53064921-53064921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1292G>T; p.R431I; 5:53059992-53059992 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.955G>A; p.A319T; 5:53056008-53056008 |
liver | carcinoma | Substitution - Missense |
c.1522G>T; p.V508L; 5:53062849-53062849 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2713C>G; p.Q905E; 5:53075109-53075109 |
breast | carcinoma | Substitution - Missense |
c.1563G>T; p.K521N; 5:53062890-53062890 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2913C>T; p.F971F; 5:53078859-53078859 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2913C>T; p.F971F; 5:53078859-53078859 |
skin | malignant_melanoma | Substitution - coding silent |
c.2913C>T; p.F971F; 5:53078859-53078859 |
skin | malignant_melanoma | Substitution - coding silent |
c.527T>C; p.V176A; 5:53048667-53048667 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2205G>C; p.Q735H; 5:53070230-53070230 |
breast | carcinoma | Substitution - Missense |
c.3162C>A; p.S1054S; 5:53083357-53083357 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.295+1G>T; p.?; 5:53042222-53042222 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.3252C>A; p.F1084L; 5:53083447-53083447 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.806_807insT; p.G270fs*14; 5:53055564-53055565 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2554delG; p.A852fs*12; 5:53073242-53073242 |
thyroid | carcinoma; anaplastic_carcinoma | Deletion - Frameshift |
c.2571+1G>T; p.?; 5:53073260-53073260 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2826A>C; p.R942S; 5:53078772-53078772 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2571+1G>T; p.?; 5:53073260-53073260 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1123C>T; p.Q375*; 5:53058051-53058051 |
skin | malignant_melanoma | Substitution - Nonsense |
c.524T>C; p.V175A; 5:53048664-53048664 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2632G>A; p.V878I; 5:53074445-53074445 |
pancreas | carcinoma | Substitution - Missense |
c.207G>T; p.W69C; 5:53042133-53042133 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2269C>T; p.R757C; 5:53071971-53071971 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1353C>T; p.H451H; 5:53060941-53060941 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2609C>T; p.S870F; 5:53074422-53074422 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2864G>A; p.G955E; 5:53078810-53078810 |
skin | malignant_melanoma | Substitution - Missense |
c.3139G>T; p.E1047*; 5:53081691-53081691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3139G>T; p.E1047*; 5:53081691-53081691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1353C>A; p.H451Q; 5:53060941-53060941 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1952G>C; p.S651T; 5:53067126-53067126 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2031C>T; p.L677L; 5:53067205-53067205 |
breast | carcinoma | Substitution - coding silent |
c.3402T>C; p.V1134V; 5:53089999-53089999 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3143T>A; p.L1048*; 5:53081695-53081695 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.2516C>A; p.T839N; 5:53073204-53073204 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1895C>T; p.S632F; 5:53065929-53065929 |
skin | malignant_melanoma | Substitution - Missense |
c.1130A>G; p.E377G; 5:53058058-53058058 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>G; p.N183S; 5:53048688-53048688 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1372C>T; p.R458W; 5:53060960-53060960 |
breast | carcinoma | Substitution - Missense |
c.2077C>T; p.Q693*; 5:53067251-53067251 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.2201C>T; p.A734V; 5:53070226-53070226 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3284C>T; p.T1095M; 5:53086977-53086977 |
breast | carcinoma | Substitution - Missense |
c.2213C>T; p.P738L; 5:53070238-53070238 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1991_1992insA; p.I666fs*24; 5:53067165-53067166 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.815G>A; p.R272Q; 5:53055573-53055573 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.815G>A; p.R272Q; 5:53055573-53055573 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3166A>T; p.S1056C; 5:53083361-53083361 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.815G>A; p.R272Q; 5:53055573-53055573 |
skin | malignant_melanoma | Substitution - Missense |
c.1430C>T; p.T477M; 5:53061018-53061018 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2741G>A; p.S914N; 5:53075137-53075137 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3542G>T; p.S1181I; 5:53090595-53090595 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.263C>T; p.S88F; 5:53042189-53042189 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.262T>C; p.S88P; 5:53042188-53042188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.630+1G>T; p.?; 5:53048771-53048771 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2297G>A; p.G766D; 5:53071999-53071999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1675G>A; p.A559T; 5:53064984-53064984 |
stomach | adenocarcinoma | Substitution - Missense |
c.2328G>T; p.E776D; 5:53072030-53072030 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2013G>T; p.K671N; 5:53067187-53067187 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.539A>G; p.D180G; 5:53048679-53048679 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2780A>G; p.N927S; 5:53075259-53075259 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2537C>T; p.S846L; 5:53073225-53073225 |
skin | malignant_melanoma | Substitution - Missense |
c.2241C>A; p.P747P; 5:53071943-53071943 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3537C>A; p.L1179L; 5:53090590-53090590 |
skin | malignant_melanoma | Substitution - coding silent |
c.3225G>C; p.V1075V; 5:53083420-53083420 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.3225G>C; p.V1075V; 5:53083420-53083420 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.3469G>A; p.G1157S; 5:53090522-53090522 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3349-1G>A; p.?; 5:53089945-53089945 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.3469G>A; p.G1157S; 5:53090522-53090522 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3469G>A; p.G1157S; 5:53090522-53090522 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2117G>C; p.G706A; 5:53070142-53070142 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3104T>A; p.V1035E; 5:53081656-53081656 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2635G>A; p.G879S; 5:53074448-53074448 |
skin | malignant_melanoma | Substitution - Missense |
c.2548delT; p.F851fs*13; 5:53073236-53073236 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1086C>T; p.F362F; 5:53056139-53056139 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1658G>A; p.R553Q; 5:53064967-53064967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2876C>T; p.S959L; 5:53078822-53078822 |
skin | malignant_melanoma | Substitution - Missense |
c.1658G>A; p.R553Q; 5:53064967-53064967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1049T>A; p.L350Q; 5:53056102-53056102 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020_1021insT; p.N343fs*4; 5:53056073-53056074 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.264C>A; p.S88S; 5:53042190-53042190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1447C>T; p.R483*; 5:53061035-53061035 |
stomach | adenocarcinoma | Substitution - Nonsense |
c.1447C>T; p.R483*; 5:53061035-53061035 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2815C>T; p.H939Y; 5:53075294-53075294 |
skin | malignant_melanoma | Substitution - Missense |
c.327G>A; p.M109I; 5:53045032-53045032 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1974A>C; p.E658D; 5:53067148-53067148 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2742-1G>T; p.?; 5:53075220-53075220 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.490C>A; p.P164T; 5:53048465-53048465 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2214C>G; p.P738P; 5:53070239-53070239 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1790G>A; p.R597H; 5:53065099-53065099 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1790G>A; p.R597H; 5:53065099-53065099 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1790G>A; p.R597H; 5:53065099-53065099 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2763G>T; p.K921N; 5:53075242-53075242 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.630+2T>G; p.?; 5:53048772-53048772 |
pancreas | carcinoma | Unknown |
c.630+2T>G; p.?; 5:53048772-53048772 |
pancreas | carcinoma; ductal_carcinoma | Unknown |
c.11A>G; p.E4G; 5:52989479-52989479 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.370G>A; p.G124R; 5:53045075-53045075 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.940T>C; p.Y314H; 5:53055993-53055993 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3307T>C; p.Y1103H; 5:53087000-53087000 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3157G>A; p.A1053T; 5:53083352-53083352 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.251C>T; p.P84L; 5:53042177-53042177 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2566C>T; p.L856L; 5:53073254-53073254 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2236-1G>T; p.?; 5:53071937-53071937 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.323A>T; p.E108V; 5:53045028-53045028 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1451G>A; p.G484D; 5:53061039-53061039 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2011A>G; p.K671E; 5:53067185-53067185 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.388-8C>G; p.?; 5:53048355-53048355 |
eye; uveal_tract | malignant_melanoma; mixed | Unknown |
c.2011A>G; p.K671E; 5:53067185-53067185 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2999A>G; p.K1000R; 5:53080581-53080581 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |