General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 22806 |
Name | IKZF3 |
Synonymous | IKAROS family zinc finger 3 (Aiolos);IKZF3;IKAROS family zinc finger 3 (Aiolos) |
Definition | zinc finger DNA binding protein Aiolos|zinc finger protein Aiolos|zinc finger protein, subfamily 1A, 3 (Aiolos) |
Position | 17q21 |
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 0.12. |
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.406C>T; p.H136Y; 17:39792691-39792691 |
skin | malignant_melanoma | Substitution - Missense |
c.82G>A; p.D28N; 17:39829468-39829468 |
skin | malignant_melanoma | Substitution - Missense |
c.855C>A; p.N285K; 17:39766465-39766465 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1260G>T; p.E420D; 17:39766060-39766060 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1050G>C; p.E350D; 17:39766270-39766270 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.23C>T; p.A8V; 17:39832136-39832136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378C>T; p.L460F; 17:39765942-39765942 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.23C>T; p.A8V; 17:39832136-39832136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1378C>T; p.L460F; 17:39765942-39765942 |
skin | malignant_melanoma | Substitution - Missense |
c.483C>T; p.L161L; 17:39791525-39791525 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.512A>G; p.E171G; 17:39791496-39791496 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1330A>G; p.K444E; 17:39765990-39765990 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1010T>G; p.V337G; 17:39766310-39766310 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010T>G; p.V337G; 17:39766310-39766310 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153G>C; p.D385H; 17:39766167-39766167 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1440C>T; p.F480F; 17:39765880-39765880 |
skin | malignant_melanoma | Substitution - coding silent |
c.1281C>T; p.L427L; 17:39766039-39766039 |
skin | malignant_melanoma | Substitution - coding silent |
c.829G>C; p.E277Q; 17:39766491-39766491 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1357C>T; p.R453W; 17:39765963-39765963 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.468T>G; p.T156T; 17:39791540-39791540 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.269C>T; p.S90L; 17:39792828-39792828 |
skin | malignant_melanoma | Substitution - Missense |
c.274G>T; p.E92*; 17:39792823-39792823 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.274G>T; p.E92*; 17:39792823-39792823 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1230G>C; p.R410R; 17:39766090-39766090 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.837C>A; p.R279R; 17:39766483-39766483 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.522delT; p.F174fs*86; 17:39791486-39791486 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.469C>T; p.Q157*; 17:39791539-39791539 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.965C>T; p.P322L; 17:39766355-39766355 |
skin | malignant_melanoma | Substitution - Missense |
c.965C>T; p.P322L; 17:39766355-39766355 |
skin | malignant_melanoma | Substitution - Missense |
c.1276G>A; p.E426K; 17:39766044-39766044 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.965C>T; p.P322L; 17:39766355-39766355 |
skin | malignant_melanoma | Substitution - Missense |
c.1462C>T; p.R488*; 17:39765858-39765858 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.1384C>T; p.L462L; 17:39765936-39765936 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.962G>A; p.R321H; 17:39766358-39766358 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.406C>A; p.H136N; 17:39792691-39792691 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.952G>A; p.E318K; 17:39766368-39766368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia | Substitution - Missense |
c.952G>A; p.E318K; 17:39766368-39766368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Substitution - Missense |
c.952G>A; p.E318K; 17:39766368-39766368 |
skin | malignant_melanoma | Substitution - Missense |
c.952G>A; p.E318K; 17:39766368-39766368 |
skin | malignant_melanoma | Substitution - Missense |
c.952G>A; p.E318K; 17:39766368-39766368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.952G>A; p.E318K; 17:39766368-39766368 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.293A>G; p.N98S; 17:39792804-39792804 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1124G>A; p.R375K; 17:39766196-39766196 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.234A>T; p.G78G; 17:39792863-39792863 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1039A>G; p.T347A; 17:39766281-39766281 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.314T>G; p.V105G; 17:39792783-39792783 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1463G>A; p.R488Q; 17:39765857-39765857 |
skin | malignant_melanoma | Substitution - Missense |
c.509G>A; p.G170E; 17:39791499-39791499 |
skin | malignant_melanoma | Substitution - Missense |
c.1187G>A; p.R396H; 17:39766133-39766133 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1046C>T; p.A349V; 17:39766274-39766274 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.818A>G; p.K273R; 17:39777659-39777659 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1275C>T; p.Y425Y; 17:39766045-39766045 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1347G>A; p.M449I; 17:39765973-39765973 |
skin | malignant_melanoma | Substitution - Missense |
c.1012A>G; p.I338V; 17:39766308-39766308 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.996G>A; p.S332S; 17:39766324-39766324 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.996G>A; p.S332S; 17:39766324-39766324 |
breast | carcinoma | Substitution - coding silent |
c.557G>A; p.R186K; 17:39791451-39791451 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.135C>T; p.G45G; 17:39829415-39829415 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664G>A; p.E222K; 17:39788303-39788303 |
skin | malignant_melanoma | Substitution - Missense |
c.673C>T; p.R225C; 17:39788294-39788294 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1296C>G; p.P432P; 17:39766024-39766024 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.997G>A; p.E333K; 17:39766323-39766323 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.207G>A; p.E69E; 17:39792890-39792890 |
skin | malignant_melanoma | Substitution - coding silent |
c.1487C>T; p.S496L; 17:39765833-39765833 |
skin | malignant_melanoma | Substitution - Missense |
c.1380C>G; p.L460L; 17:39765940-39765940 |
breast | carcinoma | Substitution - coding silent |
c.14A>G; p.Q5R; 17:39832145-39832145 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.689G>T; p.S230I; 17:39788278-39788278 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.689G>T; p.S230I; 17:39788278-39788278 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1160C>A; p.T387K; 17:39766160-39766160 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.797G>A; p.R266Q; 17:39777680-39777680 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.82G>C; p.D28H; 17:39829468-39829468 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.82G>C; p.D28H; 17:39829468-39829468 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.797G>A; p.R266Q; 17:39777680-39777680 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.420T>A; p.H140Q; 17:39792677-39792677 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.444T>C; p.C148C; 17:39791564-39791564 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.1373G>A; p.R458H; 17:39765947-39765947 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1373G>A; p.R458H; 17:39765947-39765947 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.77T>G; p.L26W; 17:39829473-39829473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.324C>T; p.F108F; 17:39792773-39792773 |
skin | malignant_melanoma | Substitution - coding silent |
c.1336G>A; p.G446R; 17:39765984-39765984 |
skin | malignant_melanoma | Substitution - Missense |
c.1395G>A; p.V465V; 17:39765925-39765925 |
skin | malignant_melanoma | Substitution - coding silent |
c.480C>T; p.N160N; 17:39791528-39791528 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.567C>T; p.L189L; 17:39791441-39791441 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1013T>C; p.I338T; 17:39766307-39766307 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1128C>T; p.G376G; 17:39766192-39766192 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.94delA; p.T32fs*22; 17:39829456-39829456 |
skin; lower_leg | malignant_melanoma | Deletion - Frameshift |
c.438C>T; p.F146F; 17:39791570-39791570 |
skin; shoulder | malignant_melanoma | Substitution - coding silent |
c.920C>T; p.A307V; 17:39766400-39766400 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.272_273insGGGGG; p.E92fs*29; 17:39792824-39792825 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.516A>C; p.K172N; 17:39791492-39791492 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1314C>T; p.S438S; 17:39766006-39766006 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1505G>A; p.G502E; 17:39765815-39765815 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.233G>A; p.G78E; 17:39792864-39792864 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1314C>T; p.S438S; 17:39766006-39766006 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.663G>A; p.K221K; 17:39788304-39788304 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1160C>T; p.T387M; 17:39766160-39766160 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>A; p.E15K; 17:39832116-39832116 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.412C>T; p.R138*; 17:39792685-39792685 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.836_837GC>CA; p.R279P; 17:39766483-39766484 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.38C>T; p.T13I; 17:39832121-39832121 |
breast | carcinoma | Substitution - Missense |
c.1176C>T; p.N392N; 17:39766144-39766144 |
skin | malignant_melanoma | Substitution - coding silent |
c.1488G>A; p.S496S; 17:39765832-39765832 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.837C>T; p.R279R; 17:39766483-39766483 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1372C>T; p.R458C; 17:39765948-39765948 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.571G>A; p.G191R; 17:39791437-39791437 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.227C>T; p.P76L; 17:39792870-39792870 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.701G>C; p.G234A; 17:39788266-39788266 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1374C>T; p.R458R; 17:39765946-39765946 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.569C>T; p.T190M; 17:39791439-39791439 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1114C>G; p.P372A; 17:39766206-39766206 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.256C>T; p.P86S; 17:39792841-39792841 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.563C>T; p.A188V; 17:39791445-39791445 |
breast | carcinoma | Substitution - Missense |
c.1429C>T; p.R477C; 17:39765891-39765891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1241G>T; p.G414V; 17:39766079-39766079 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.201A>C; p.R67S; 17:39792896-39792896 |
skin | malignant_melanoma | Substitution - Missense |
c.582G>C; p.R194S; 17:39791426-39791426 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>C; p.R194S; 17:39791426-39791426 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1169A>G; p.D390G; 17:39766151-39766151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1014C>G; p.I338M; 17:39766306-39766306 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.375A>G; p.L125L; 17:39792722-39792722 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.58G>T; p.A20S; 17:39832101-39832101 |
breast | carcinoma | Substitution - Missense |
c.1419C>T; p.C473C; 17:39765901-39765901 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.815_816delAG; p.K273fs*4; 17:39777661-39777662 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Deletion - Frameshift |
c.8-1G>A; p.?; 17:39832152-39832152 |
skin | malignant_melanoma | Unknown |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.485T>G; p.L162R; 17:39791523-39791523 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.517C>T; p.P173S; 17:39791491-39791491 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.974_975insC; p.Q325fs*26; 17:39766345-39766346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.974_975insC; p.Q325fs*26; 17:39766345-39766346 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasm | Insertion - Frameshift |
c.140C>T; p.A47V; 17:39829410-39829410 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.257C>A; p.P86H; 17:39792840-39792840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1491T>C; p.S497S; 17:39765829-39765829 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.479A>C; p.N160T; 17:39791529-39791529 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.639G>A; p.Q213Q; 17:39788328-39788328 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.272G>A; p.R91K; 17:39792825-39792825 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1202A>C; p.Y401S; 17:39766118-39766118 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.360C>T; p.C120C; 17:39792737-39792737 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1017C>A; p.S339R; 17:39766303-39766303 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.863C>G; p.S288*; 17:39766457-39766457 |
NS | NS | Substitution - Nonsense |
c.904C>T; p.R302C; 17:39766416-39766416 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.530A>G; p.H177R; 17:39791478-39791478 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.479A>G; p.N160S; 17:39791529-39791529 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.718G>A; p.E240K; 17:39777759-39777759 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1333G>A; p.E445K; 17:39765987-39765987 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1333G>A; p.E445K; 17:39765987-39765987 |
skin | malignant_melanoma | Substitution - Missense |
c.1430G>A; p.R477H; 17:39765890-39765890 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.71C>T; p.A24V; 17:39829479-39829479 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.161G>C; p.G54A; 17:39829389-39829389 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.161G>C; p.G54A; 17:39829389-39829389 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.334A>C; p.R112R; 17:39792763-39792763 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1186C>T; p.R396C; 17:39766134-39766134 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.82G>T; p.D28Y; 17:39829468-39829468 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.951C>T; p.A317A; 17:39766369-39766369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1264C>T; p.P422S; 17:39766056-39766056 |
skin | malignant_melanoma | Substitution - Missense |
c.836G>C; p.R279P; 17:39766484-39766484 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1485C>A; p.F495L; 17:39765835-39765835 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1485C>A; p.F495L; 17:39765835-39765835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1275C>A; p.Y425*; 17:39766045-39766045 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |