| Gene ID | 3689 |
| Symbol | ITGB2 |
| Synonymous | CD18|LAD|LCAMB|LFA-1|MAC-1|MF17|MFI7 |
| Full name | integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) |
| Gene description | cell surface adhesion glycoprotein (LFA-1/CR3/P150,959 beta subunit precursor)|complement receptor C3 beta-subunit|integrin beta chain, beta 2|integrin beta-2|leukocyte cell adhesion molecule CD18|leukocyte-associated antigens CD18/11A, CD18/11B, CD18/11C |
| Cytoband | 21q22.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600065; HGNC:HGNC:6155; Ensembl:ENSG00000160255; HPRD:02506; Vega:OTTHUMG00000090257 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.28G>A; p.A10T; 21:44910755-44910755 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.741G>T; p.P247P; 21:44901492-44901492 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1237G>A; p.V413M; 21:44891984-44891984 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.700G>C; p.E234Q; 21:44901533-44901533 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2188A>G; p.S730G; 21:44886795-44886795 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.750C>T; p.I250I; 21:44900467-44900467 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1869C>G; p.G623G; 21:44889284-44889284 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.221C>T; p.A74V; 21:44907022-44907022 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.221C>T; p.A74V; 21:44907022-44907022 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.221C>T; p.A74V; 21:44907022-44907022 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.892G>A; p.E298K; 21:44900325-44900325 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.178A>C; p.I60L; 21:44907065-44907065 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2099A>G; p.N700S; 21:44886884-44886884 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2099A>G; p.N700S; 21:44886884-44886884 |
skin | malignant_melanoma | Substitution - Missense |
c.2228T>G; p.L743R; 21:44886755-44886755 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 21:44903502-44903502 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.540_564del25; p.N181fs*20; 21:44901669-44901693 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.1412+1G>A; p.?; 21:44891808-44891808 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.2078G>A; p.R693Q; 21:44888695-44888695 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.638A>G; p.N213S; 21:44901595-44901595 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2240G>T; p.W747L; 21:44886743-44886743 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1756C>T; p.R586W; 21:44889397-44889397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.333G>A; p.Q111Q; 21:44903531-44903531 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.194G>A; p.R65Q; 21:44907049-44907049 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.612C>T; p.F204F; 21:44901621-44901621 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.829G>T; p.A277S; 21:44900388-44900388 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.905C>A; p.P302Q; 21:44899155-44899155 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.905C>A; p.P302Q; 21:44899155-44899155 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1880C>T; p.S627F; 21:44888893-44888893 |
breast | carcinoma | Substitution - Missense |
c.897C>T; p.F299F; 21:44900320-44900320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.708G>C; p.G236G; 21:44901525-44901525 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.818G>A; p.G273E; 21:44900399-44900399 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1903G>A; p.E635K; 21:44888870-44888870 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.537C>T; p.F179F; 21:44901696-44901696 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.603G>A; p.P201P; 21:44901630-44901630 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1903G>A; p.E635K; 21:44888870-44888870 |
skin | malignant_melanoma | Substitution - Missense |
c.1227C>A; p.I409I; 21:44891994-44891994 |
breast | carcinoma | Substitution - coding silent |
c.2024C>T; p.T675M; 21:44888749-44888749 |
pancreas | carcinoma | Substitution - Missense |
c.488C>T; p.S163F; 21:44903376-44903376 |
skin | malignant_melanoma | Substitution - Missense |
c.1586T>C; p.I529T; 21:44890049-44890049 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.663C>T; p.V221V; 21:44901570-44901570 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.994-1G>A; p.?; 21:44895061-44895061 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.2247+4A>C; p.?; 21:44886732-44886732 |
pancreas | carcinoma | Unknown |
c.2241G>A; p.W747*; 21:44886742-44886742 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2129C>T; p.A710V; 21:44886854-44886854 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.22C>T; p.L8L; 21:44910761-44910761 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.769C>T; p.R257W; 21:44900448-44900448 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.807C>T; p.F269F; 21:44900410-44900410 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1788C>T; p.C596C; 21:44889365-44889365 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1011C>A; p.I337I; 21:44895043-44895043 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.311C>T; p.T104M; 21:44906932-44906932 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659A>C; p.E220A; 21:44901574-44901574 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1935G>T; p.A645A; 21:44888838-44888838 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659A>C; p.E220A; 21:44901574-44901574 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1813delT; p.S605fs*28; 21:44889340-44889340 |
skin; neck | malignant_melanoma | Deletion - Frameshift |
c.2122A>T; p.T708S; 21:44886861-44886861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1989G>A; p.K663K; 21:44888784-44888784 |
breast | carcinoma | Substitution - coding silent |
c.169C>T; p.P57S; 21:44907074-44907074 |
skin | malignant_melanoma | Substitution - Missense |
c.811G>A; p.G271S; 21:44900406-44900406 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.790G>T; p.D264Y; 21:44900427-44900427 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.285G>A; p.Q95Q; 21:44906958-44906958 |
skin | malignant_melanoma | Substitution - coding silent |
c.770_772delGGC; p.R257delR; 21:44900445-44900447 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.522G>T; p.K174N; 21:44901711-44901711 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1697C>T; p.P566L; 21:44889456-44889456 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.817G>A; p.G273R; 21:44900400-44900400 |
skin | malignant_melanoma | Substitution - Missense |
c.1111C>T; p.H371Y; 21:44893517-44893517 |
skin | malignant_melanoma | Substitution - Missense |
c.2141T>C; p.L714P; 21:44886842-44886842 |
skin | malignant_melanoma | Substitution - Missense |
c.112G>A; p.E38K; 21:44910319-44910319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1798G>T; p.V600L; 21:44889355-44889355 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.824T>C; p.L275P; 21:44900393-44900393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2203T>A; p.Y735N; 21:44886780-44886780 |
skin | malignant_melanoma | Substitution - Missense |
c.1003G>A; p.E335K; 21:44895051-44895051 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.843delC; p.N282fs*41; 21:44900374-44900374 |
lung | carcinoma; small_cell_carcinoma | Deletion - Frameshift |
c.2275A>G; p.T759A; 21:44886403-44886403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2275A>G; p.T759A; 21:44886403-44886403 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.909G>A; p.S303S; 21:44899151-44899151 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1483G>A; p.G495R; 21:44890152-44890152 |
skin | malignant_melanoma | Substitution - Missense |
c.1063C>A; p.L355I; 21:44894991-44894991 |
liver | carcinoma | Substitution - Missense |
c.816C>T; p.D272D; 21:44900401-44900401 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.816C>T; p.D272D; 21:44900401-44900401 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.538G>A; p.V180M; 21:44901695-44901695 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2200G>A; p.E734K; 21:44886783-44886783 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.563G>A; p.R188Q; 21:44901670-44901670 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.529C>T; p.L177L; 21:44901704-44901704 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.729C>G; p.V243V; 21:44901504-44901504 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2010C>T; p.C670C; 21:44888763-44888763 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.547C>T; p.H183Y; 21:44901686-44901686 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.547C>T; p.H183Y; 21:44901686-44901686 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1809C>A; p.C603*; 21:44889344-44889344 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1571T>A; p.V524D; 21:44890064-44890064 |
breast | carcinoma | Substitution - Missense |
c.899A>G; p.D300G; 21:44899161-44899161 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.248G>A; p.S83N; 21:44906995-44906995 |
skin | malignant_melanoma | Substitution - Missense |
c.2070T>C; p.D690D; 21:44888703-44888703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.539_563del25; p.V180fs*21; 21:44901670-44901694 |
breast | carcinoma; ductal_carcinoma | Deletion - Frameshift |
c.29C>T; p.A10V; 21:44910754-44910754 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1285C>T; p.R429W; 21:44891936-44891936 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1975G>T; p.G659C; 21:44888798-44888798 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1039G>C; p.E347Q; 21:44895015-44895015 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.465G>C; p.R155R; 21:44903399-44903399 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1963A>C; p.N655H; 21:44888810-44888810 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.A85T; 21:44906990-44906990 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.A85T; 21:44906990-44906990 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.253G>A; p.A85T; 21:44906990-44906990 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2209C>T; p.R737C; 21:44886774-44886774 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2209C>T; p.R737C; 21:44886774-44886774 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.849C>T; p.D283D; 21:44900368-44900368 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1317G>A; p.V439V; 21:44891904-44891904 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1602C>T; p.C534C; 21:44890033-44890033 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1602C>T; p.C534C; 21:44890033-44890033 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1602C>T; p.C534C; 21:44890033-44890033 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1173G>A; p.T391T; 21:44893455-44893455 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24G>T; p.L8L; 21:44910759-44910759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.24G>T; p.L8L; 21:44910759-44910759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1220T>C; p.V407A; 21:44893408-44893408 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2220G>A; p.K740K; 21:44886763-44886763 |
skin | malignant_melanoma | Substitution - coding silent |
c.24G>T; p.L8L; 21:44910759-44910759 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.793G>T; p.D265Y; 21:44900424-44900424 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1243G>A; p.V415I; 21:44891978-44891978 |
breast | carcinoma | Substitution - Missense |
c.158G>T; p.G53V; 21:44907085-44907085 |
pancreas | carcinoma | Substitution - Missense |
c.410A>G; p.Y137C; 21:44903454-44903454 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1286G>T; p.R429L; 21:44891935-44891935 |
skin | malignant_melanoma | Substitution - Missense |
c.1267G>A; p.E423K; 21:44891954-44891954 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.2268C>T; p.S756S; 21:44886410-44886410 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2268C>T; p.S756S; 21:44886410-44886410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2268C>T; p.S756S; 21:44886410-44886410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.828C>T; p.G276G; 21:44900389-44900389 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2025G>T; p.T675T; 21:44888748-44888748 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.740C>T; p.P247L; 21:44901493-44901493 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1192G>T; p.G398C; 21:44893436-44893436 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.195G>A; p.R65R; 21:44907048-44907048 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.77C>T; p.T26M; 21:44910354-44910354 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1545G>T; p.G515G; 21:44890090-44890090 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.77C>T; p.T26M; 21:44910354-44910354 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.937G>T; p.E313*; 21:44899123-44899123 |
breast | carcinoma | Substitution - Nonsense |
c.1161C>T; p.S387S; 21:44893467-44893467 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.733G>A; p.A245T; 21:44901500-44901500 |
pancreas | carcinoma | Substitution - Missense |
c.2004G>A; p.E668E; 21:44888769-44888769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.454G>A; p.D152N; 21:44903410-44903410 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2210G>A; p.R737H; 21:44886773-44886773 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.828C>A; p.G276G; 21:44900389-44900389 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1367G>A; p.R456H; 21:44891854-44891854 |
ovary | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.1499A>G; p.D500G; 21:44890136-44890136 |
breast | carcinoma | Substitution - Missense |
c.732C>T; p.A244A; 21:44901501-44901501 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1508C>T; p.S503F; 21:44890127-44890127 |
skin | malignant_melanoma | Substitution - Missense |
c.1969G>A; p.V657M; 21:44888804-44888804 |
pancreas | carcinoma | Substitution - Missense |
c.597G>A; p.Q199Q; 21:44901636-44901636 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1024G>A; p.V342M; 21:44895030-44895030 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1529G>A; p.G510E; 21:44890106-44890106 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.967A>G; p.T323A; 21:44899093-44899093 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1548G>A; p.Q516Q; 21:44890087-44890087 |
skin | malignant_melanoma | Substitution - coding silent |
c.2007C>A; p.G669G; 21:44888766-44888766 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2123C>T; p.T708I; 21:44886860-44886860 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1835G>T; p.C612F; 21:44889318-44889318 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.13C>T; p.R5C; 21:44910770-44910770 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.768G>A; p.T256T; 21:44900449-44900449 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.528G>T; p.V176V; 21:44901705-44901705 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1846C>T; p.P616S; 21:44889307-44889307 |
skin | malignant_melanoma | Substitution - Missense |
c.411C>A; p.Y137*; 21:44903453-44903453 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.962C>T; p.A321V; 21:44899098-44899098 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.533C>T; p.P178L; 21:44901700-44901700 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1757G>A; p.R586Q; 21:44889396-44889396 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1323T>C; p.V441V; 21:44891898-44891898 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1757G>A; p.R586Q; 21:44889396-44889396 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1798G>A; p.V600I; 21:44889355-44889355 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1798G>A; p.V600I; 21:44889355-44889355 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2112C>T; p.I704I; 21:44886871-44886871 |
breast | carcinoma | Substitution - coding silent |
c.682G>A; p.G228R; 21:44901551-44901551 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1315G>A; p.V439M; 21:44891906-44891906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1315G>A; p.V439M; 21:44891906-44891906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1223C>T; p.P408L; 21:44893405-44893405 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1725C>T; p.C575C; 21:44889428-44889428 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1143C>A; p.T381T; 21:44893485-44893485 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.898G>C; p.D300H; 21:44899162-44899162 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1597T>C; p.Y533H; 21:44890038-44890038 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>A; p.A277T; 21:44900388-44900388 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1493G>A; p.R498Q; 21:44890142-44890142 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1849G>A; p.G617S; 21:44889304-44889304 |
skin | malignant_melanoma | Substitution - Missense |
c.489C>T; p.S163S; 21:44903375-44903375 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.39G>A; p.G13G; 21:44910744-44910744 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1289C>T; p.A430V; 21:44891932-44891932 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.846C>T; p.N282N; 21:44900371-44900371 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1958C>T; p.S653L; 21:44888815-44888815 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1289C>T; p.A430V; 21:44891932-44891932 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1546C>T; p.Q516*; 21:44890089-44890089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1546C>T; p.Q516*; 21:44890089-44890089 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1366C>T; p.R456C; 21:44891855-44891855 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1037C>G; p.S346C; 21:44895017-44895017 |
liver | carcinoma | Substitution - Missense |
c.1037C>G; p.S346C; 21:44895017-44895017 |
liver | carcinoma | Substitution - Missense |
c.2132G>A; p.G711D; 21:44886851-44886851 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.897+1G>A; p.?; 21:44900319-44900319 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.897+1G>A; p.?; 21:44900319-44900319 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.897+1G>A; p.?; 21:44900319-44900319 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.187G>A; p.D63N; 21:44907056-44907056 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.808G>A; p.A270T; 21:44900409-44900409 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1101C>A; p.V367V; 21:44893527-44893527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2301T>A; p.A767A; 21:44886377-44886377 |
breast | carcinoma | Substitution - coding silent |
c.1609G>A; p.D537N; 21:44890026-44890026 |
breast | carcinoma | Substitution - Missense |
c.1686C>T; p.C562C; 21:44889467-44889467 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1635C>T; p.N545N; 21:44890000-44890000 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1635C>T; p.N545N; 21:44890000-44890000 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1165G>A; p.G389R; 21:44893463-44893463 |
skin | malignant_melanoma | Substitution - Missense |
c.1902C>T; p.F634F; 21:44888871-44888871 |
skin | malignant_melanoma | Substitution - coding silent |
c.811G>T; p.G271C; 21:44900406-44900406 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1627C>T; p.R543C; 21:44890008-44890008 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.575C>A; p.P192H; 21:44901658-44901658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1146C>T; p.Y382Y; 21:44893482-44893482 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.474C>T; p.N158N; 21:44903390-44903390 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.78G>A; p.T26T; 21:44910353-44910353 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.78G>A; p.T26T; 21:44910353-44910353 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1778G>A; p.R593H; 21:44889375-44889375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.78G>A; p.T26T; 21:44910353-44910353 |
breast | carcinoma | Substitution - coding silent |
c.306delA; p.V103fs*1; 21:44906937-44906937 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1848delC; p.G617fs*16; 21:44889305-44889305 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.306delA; p.V103fs*1; 21:44906937-44906937 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2310G>T; p.*770Y; 21:44886368-44886368 |
breast | carcinoma | Nonstop extension |
c.100C>T; p.R34W; 21:44910331-44910331 |
oesophagus | carcinoma | Substitution - Missense |