| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 1785 |
Name | DNM2 |
Synonymous | dynamin 2;DNM2;dynamin 2 |
Definition | dynamin II|dynamin-2 |
Position | 19p13.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2132A>G; p.E711G; 19:10829109-10829109 |
kidney | other; neoplasm | Substitution - Missense |
c.455T>C; p.I152T; 19:10775772-10775772 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1423-7_1423-6delCC; p.?; 19:10802281-10802282 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.2026C>A; p.P676T; 19:10825189-10825189 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2418G>A; p.A806A; 19:10830253-10830253 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2418G>A; p.A806A; 19:10830253-10830253 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.886C>A; p.L296I; 19:10786600-10786600 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.792C>T; p.A264A; 19:10783063-10783063 |
skin | malignant_melanoma | Substitution - coding silent |
c.956C>T; p.P319L; 19:10786670-10786670 |
skin | malignant_melanoma | Substitution - Missense |
c.199C>T; p.R67W; 19:10759775-10759775 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.956C>T; p.P319L; 19:10786670-10786670 |
skin | malignant_melanoma | Substitution - Missense |
c.1679_1681delAGA; p.K562delK; 19:10819987-10819989 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.438C>T; p.G146G; 19:10775755-10775755 |
oesophagus | carcinoma | Substitution - coding silent |
c.194delC; p.R66fs*65; 19:10759770-10759770 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2399C>T; p.A800V; 19:10830234-10830234 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1797C>T; p.D599D; 19:10823803-10823803 |
skin | malignant_melanoma | Substitution - coding silent |
c.2608G>A; p.D870N; 19:10831042-10831042 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2459delC; p.N821fs*>50; 19:10830294-10830294 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.952C>T; p.R318W; 19:10786666-10786666 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1742C>T; p.S581F; 19:10820050-10820050 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1949A>G; p.E650G; 19:10825112-10825112 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1118A>T; p.E373V; 19:10793845-10793845 |
liver | carcinoma | Substitution - Missense |
c.1118A>T; p.E373V; 19:10793845-10793845 |
liver | carcinoma | Substitution - Missense |
c.1643A>G; p.E548G; 19:10812349-10812349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2607C>T; p.L869L; 19:10831041-10831041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.922G>T; p.E308*; 19:10786636-10786636 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.589+4A>G; p.?; 19:10775910-10775910 |
liver | carcinoma | Unknown |
c.2015G>A; p.R672H; 19:10825178-10825178 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1473G>T; p.E491D; 19:10802338-10802338 |
ovary | other; neoplasm | Substitution - Missense |
c.2308C>T; p.R770*; 19:10830143-10830143 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.2308C>T; p.R770*; 19:10830143-10830143 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.2222C>A; p.T741N; 19:10829199-10829199 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2308C>T; p.R770*; 19:10830143-10830143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2306G>A; p.R769H; 19:10830141-10830141 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.545C>A; p.A182D; 19:10775862-10775862 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified | Substitution - Missense |
c.821C>T; p.T274M; 19:10783092-10783092 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.633C>T; p.D211D; 19:10777161-10777161 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.945G>T; p.K315N; 19:10786659-10786659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.604G>A; p.G202S; 19:10777132-10777132 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2377_2377delC; p.L793fs*1; 19:10830212-10830212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.1464G>A; p.T488T; 19:10802329-10802329 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2377_2377delC; p.L793fs*1; 19:10830212-10830212 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.2154G>T; p.R718R; 19:10829131-10829131 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.73C>T; p.Q25*; 19:10718315-10718315 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.2208C>T; p.I736I; 19:10829185-10829185 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1836C>T; p.D612D; 19:10823842-10823842 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1174A>G; p.I392V; 19:10795417-10795417 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1157G>A; p.R386Q; 19:10795400-10795400 |
breast | carcinoma | Substitution - Missense |
c.700G>A; p.V234M; 19:10782971-10782971 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1144A>G; p.K382E; 19:10795387-10795387 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1426C>A; p.L476I; 19:10802291-10802291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.579C>T; p.V193V; 19:10775896-10775896 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1090C>T; p.R364C; 19:10793817-10793817 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1061T>C; p.L354P; 19:10793788-10793788 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1090C>T; p.R364C; 19:10793817-10793817 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.817G>A; p.G273S; 19:10783088-10783088 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.316G>A; p.D106N; 19:10772559-10772559 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1902C>T; p.N634N; 19:10825065-10825065 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2366C>T; p.P789L; 19:10830201-10830201 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1153C>T; p.R385*; 19:10795396-10795396 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1078G>A; p.A360T; 19:10793805-10793805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1539C>T; p.P513P; 19:10805961-10805961 |
skin; upper_arm | malignant_melanoma | Substitution - coding silent |
c.1079C>T; p.A360V; 19:10793806-10793806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1079C>T; p.A360V; 19:10793806-10793806 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1989C>T; p.Y663Y; 19:10825152-10825152 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.788C>T; p.P263L; 19:10783059-10783059 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.655G>A; p.V219I; 19:10777183-10777183 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2483C>T; p.P828L; 19:10830318-10830318 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091G>A; p.R364H; 19:10793818-10793818 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2483C>T; p.P828L; 19:10830318-10830318 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1081C>T; p.R361*; 19:10793808-10793808 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2483C>T; p.P828L; 19:10830318-10830318 |
skin | malignant_melanoma | Substitution - Missense |
c.1081C>T; p.R361*; 19:10793808-10793808 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.1402G>T; p.E468*; 19:10798552-10798552 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Nonsense |
c.418A>G; p.I140V; 19:10775735-10775735 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.196C>T; p.R66W; 19:10759772-10759772 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.320G>A; p.R107K; 19:10772563-10772563 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.538G>A; p.D180N; 19:10775855-10775855 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1810G>A; p.E604K; 19:10823816-10823816 |
breast | carcinoma | Substitution - Missense |
c.1912G>A; p.A638T; 19:10825075-10825075 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2383C>T; p.P795S; 19:10830218-10830218 |
skin | malignant_melanoma | Substitution - Missense |
c.1856C>T; p.S619L; 19:10823862-10823862 |
skin | malignant_melanoma | Substitution - Missense |
c.304G>A; p.E102K; 19:10772547-10772547 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.736A>T; p.K246*; 19:10783007-10783007 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2433C>T; p.S811S; 19:10830268-10830268 |
skin | malignant_melanoma | Substitution - coding silent |
c.235+2T>C; p.?; 19:10759813-10759813 |
ovary | other; neoplasm | Unknown |
c.1264G>T; p.E422*; 19:10796128-10796128 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1597C>A; p.L533M; 19:10812303-10812303 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1128+1G>A; p.?; 19:10793856-10793856 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.965C>T; p.P322L; 19:10786679-10786679 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1002G>T; p.Q334H; 19:10793729-10793729 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.840G>A; p.T280T; 19:10783111-10783111 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1393C>T; p.R465W; 19:10798543-10798543 |
skin | malignant_melanoma | Substitution - Missense |
c.1006delT; p.F336fs*40; 19:10793733-10793733 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2136G>A; p.S712S; 19:10829113-10829113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1411_1412insGCCATCGT; p.T471fs*11; 19:10798561-10798562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1411_1412insGCCATCGT; p.T471fs*11; 19:10798561-10798562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.1986A>T; p.S662S; 19:10825149-10825149 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1411_1412insGCCATCGT; p.T471fs*11; 19:10798561-10798562 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Insertion - Frameshift |
c.2370_2371insC; p.L793fs*31; 19:10830205-10830206 |
breast | carcinoma | Insertion - Frameshift |
c.2370_2371insC; p.L793fs*31; 19:10830205-10830206 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2370_2371insC; p.L793fs*31; 19:10830205-10830206 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.1759G>A; p.A587T; 19:10820067-10820067 |
skin | malignant_melanoma | Substitution - Missense |
c.761_762delCT; p.A254fs*44; 19:10783032-10783033 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1458C>G; p.I486M; 19:10802323-10802323 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.744C>T; p.I248I; 19:10783015-10783015 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1956G>A; p.Q652Q; 19:10825119-10825119 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.696T>C; p.I232I; 19:10782967-10782967 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2529C>T; p.P843P; 19:10830364-10830364 |
skin | malignant_melanoma | Substitution - coding silent |
c.1088A>G; p.N363S; 19:10793815-10793815 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343C>T; p.S448F; 19:10798493-10798493 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1834G>A; p.D612N; 19:10823840-10823840 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2018A>G; p.D673G; 19:10825181-10825181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.552C>A; p.S184S; 19:10775869-10775869 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2156G>A; p.R719Q; 19:10829133-10829133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.806C>T; p.A269V; 19:10783077-10783077 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2124delC; p.M709fs*76; 19:10829101-10829101 |
skin | malignant_melanoma | Deletion - Frameshift |
c.782C>T; p.S261F; 19:10783053-10783053 |
skin | malignant_melanoma | Substitution - Missense |
c.1479C>T; p.F493F; 19:10802344-10802344 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1864C>T; p.R622*; 19:10823870-10823870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1864C>T; p.R622*; 19:10823870-10823870 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.595C>T; p.R199W; 19:10777123-10777123 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1864C>T; p.R622*; 19:10823870-10823870 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2161G>A; p.D721N; 19:10829138-10829138 |
pancreas | carcinoma | Substitution - Missense |
c.227_228insA; p.T78fs*18; 19:10759803-10759804 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.527C>A; p.P176H; 19:10775844-10775844 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.2170C>T; p.R724C; 19:10829147-10829147 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228G>A; p.E410K; 19:10796092-10796092 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.993-1G>A; p.?; 19:10793719-10793719 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.993-1G>A; p.?; 19:10793719-10793719 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.177C>G; p.R59R; 19:10759753-10759753 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2122C>A; p.L708I; 19:10829099-10829099 |
skin | malignant_melanoma | Substitution - Missense |
c.1973A>G; p.N658S; 19:10825136-10825136 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.26T>G; p.L9R; 19:10718268-10718268 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1973A>G; p.N658S; 19:10825136-10825136 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.386-2A>G; p.?; 19:10775701-10775701 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.386-2A>G; p.?; 19:10775701-10775701 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Unknown |
c.525G>A; p.T175T; 19:10775842-10775842 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.118C>T; p.Q40*; 19:10718360-10718360 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2139T>C; p.A713A; 19:10829116-10829116 |
thyroid | other; neoplasm | Substitution - coding silent |
c.957C>T; p.P319P; 19:10786671-10786671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2139T>C; p.A713A; 19:10829116-10829116 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1091G>C; p.R364P; 19:10793818-10793818 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2139T>C; p.A713A; 19:10829116-10829116 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1926_1928delCTT; p.F643delF; 19:10825089-10825091 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.2139T>C; p.A713A; 19:10829116-10829116 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2139T>C; p.A713A; 19:10829116-10829116 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.778C>T; p.L260F; 19:10783049-10783049 |
skin | malignant_melanoma | Substitution - Missense |
c.1476C>A; p.D492E; 19:10802341-10802341 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1791C>T; p.Y597Y; 19:10823797-10823797 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1749_1750GC>TG; p.K583_H584>ND; 19:10820057-10820058 |
ovary | carcinoma; serous_carcinoma | Complex - compound substitution |
c.1758C>T; p.F586F; 19:10820066-10820066 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1449G>T; p.Q483H; 19:10802314-10802314 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2426_2426delT; p.I809fs*63; 19:10830261-10830261 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.1771A>G; p.T591A; 19:10820079-10820079 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.207C>A; p.L69L; 19:10759783-10759783 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.207C>A; p.L69L; 19:10759783-10759783 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.497G>A; p.R166Q; 19:10775814-10775814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.414G>A; p.P138P; 19:10775731-10775731 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.219C>T; p.L73L; 19:10759795-10759795 |
breast | carcinoma | Substitution - coding silent |
c.745C>T; p.R249C; 19:10783016-10783016 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1129-1G>C; p.?; 19:10795371-10795371 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.384C>T; p.H128H; 19:10772627-10772627 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1831G>A; p.E611K; 19:10823837-10823837 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.638G>A; p.G213D; 19:10777166-10777166 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2383C>A; p.P795T; 19:10830218-10830218 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1716C>T; p.I572I; 19:10820024-10820024 |
skin | malignant_melanoma | Substitution - coding silent |
c.1509C>G; p.S503R; 19:10805931-10805931 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2369G>T; p.G790V; 19:10830204-10830204 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2089G>T; p.A697S; 19:10829066-10829066 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
thyroid | other; neoplasm | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.359T>C; p.I120T; 19:10772602-10772602 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1958T>G; p.V653G; 19:10825121-10825121 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1593C>T; p.I531I; 19:10812299-10812299 |
breast | carcinoma | Substitution - coding silent |
c.2500C>A; p.R834R; 19:10830335-10830335 |
skin | malignant_melanoma | Substitution - coding silent |
c.1615A>G; p.K539E; 19:10812321-10812321 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2377_2378delCT; p.L793fs*30; 19:10830212-10830213 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.2434C>T; p.R812W; 19:10830269-10830269 |
skin | malignant_melanoma | Substitution - Missense |
c.2377_2378delCT; p.L793fs*30; 19:10830212-10830213 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.808G>A; p.D270N; 19:10783079-10783079 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.774C>T; p.F258F; 19:10783045-10783045 |
skin | malignant_melanoma | Substitution - coding silent |
c.1826C>G; p.S609C; 19:10823832-10823832 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2028delA; p.K677fs*7; 19:10825191-10825191 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.1683_1685delGAA; p.K562del; 19:10819991-10819993 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - In frame |
c.1082G>T; p.R361L; 19:10793809-10793809 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.381A>G; p.P127P; 19:10772624-10772624 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.257G>C; p.C86S; 19:10772500-10772500 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1214C>T; p.P405L; 19:10796078-10796078 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1903G>A; p.E635K; 19:10825066-10825066 |
breast | carcinoma | Substitution - Missense |
c.2238G>T; p.T746T; 19:10829215-10829215 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1894-2A>T; p.?; 19:10825055-10825055 |
breast | carcinoma | Unknown |
c.960C>T; p.D320D; 19:10786674-10786674 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2102C>T; p.S701F; 19:10829079-10829079 |
skin | malignant_melanoma | Substitution - Missense |
c.2102C>T; p.S701F; 19:10829079-10829079 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1826_1827CC>TT; p.S609F; 19:10823832-10823833 |
skin | malignant_melanoma | Substitution - Missense |
c.2171G>A; p.R724H; 19:10829148-10829148 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1565G>A; p.R522H; 19:10812271-10812271 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1565G>A; p.R522H; 19:10812271-10812271 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1940C>A; p.P647H; 19:10825103-10825103 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1143G>A; p.E381E; 19:10795386-10795386 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.886C>T; p.L296L; 19:10786600-10786600 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1490C>A; p.A497D; 19:10802355-10802355 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361Q; 19:10793809-10793809 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.R361Q; 19:10793809-10793809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1082G>A; p.R361Q; 19:10793809-10793809 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2338C>T; p.R780W; 19:10830173-10830173 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2371delC; p.L793fs*1; 19:10830206-10830206 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2371delC; p.L793fs*1; 19:10830206-10830206 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Deletion - Frameshift |
c.1650G>A; p.L550L; 19:10812356-10812356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1650G>A; p.L550L; 19:10812356-10812356 |
breast | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.2515C>T; p.P839S; 19:10830350-10830350 |
skin; abdomen | malignant_melanoma | Substitution - Missense |
c.1936G>A; p.D646N; 19:10825099-10825099 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2281_2282delAG; p.S761fs*62; 19:10829258-10829259 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1848G>C; p.W616C; 19:10823854-10823854 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1086C>T; p.I362I; 19:10793813-10793813 |
ovary | other; neoplasm | Substitution - coding silent |
c.1818C>A; p.A606A; 19:10823824-10823824 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2484G>A; p.P828P; 19:10830319-10830319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1734C>T; p.G578G; 19:10820042-10820042 |
thyroid | carcinoma | Substitution - coding silent |
c.1970G>A; p.R657H; 19:10825133-10825133 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2372C>A; p.P791H; 19:10830207-10830207 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.175C>T; p.R59C; 19:10759751-10759751 |
skin | malignant_melanoma | Substitution - Missense |
c.1966A>G; p.I656V; 19:10825129-10825129 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2121C>T; p.S707S; 19:10829098-10829098 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1426C>T; p.L476F; 19:10802291-10802291 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2438C>A; p.P813H; 19:10830273-10830273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |