| Gene ID | 6401 |
| Symbol | SELE |
| Synonymous | CD62E|ELAM|ELAM1|ESEL|LECAM2 |
| Full name | selectin E |
| Gene description | CD62 antigen-like family member E|E-selectin|ELAM-1|endothelial adhesion molecule 1|endothelial leukocyte adhesion molecule 1|leukocyte endothelial cell adhesion molecule 2|leukocyte-endothelial cell adhesion molecule 2 |
| Cytoband | 1q24.2 |
| Gene type | protein-coding |
| Synonymous | MIM:131210; HGNC:HGNC:10718; Ensembl:ENSG00000007908; HPRD:00566; Vega:OTTHUMG00000034851 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1056A>C; p.Q352H; 1:169729220-169729220 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.284A>T; p.K95M; 1:169732752-169732752 |
kidney | other; neoplasm | Substitution - Missense |
c.1460C>T; p.S487F; 1:169727747-169727747 |
skin | malignant_melanoma | Substitution - Missense |
c.556C>T; p.P186S; 1:169730591-169730591 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.440C>T; p.S147F; 1:169731924-169731924 |
skin | malignant_melanoma | Substitution - Missense |
c.440C>T; p.S147F; 1:169731924-169731924 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.80C>G; p.S27C; 1:169732956-169732956 |
breast | carcinoma | Substitution - Missense |
c.823G>A; p.G275R; 1:169729566-169729566 |
skin | malignant_melanoma | Substitution - Missense |
c.1490C>G; p.A497G; 1:169727504-169727504 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.177A>G; p.L59L; 1:169732859-169732859 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.936T>A; p.N312K; 1:169729340-169729340 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1825A>G; p.I609V; 1:169725752-169725752 |
skin | malignant_melanoma | Substitution - Missense |
c.19C>A; p.L7I; 1:169733594-169733594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1790T>A; p.L597H; 1:169725787-169725787 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.19C>A; p.L7I; 1:169733594-169733594 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1494T>C; p.V498V; 1:169727500-169727500 |
skin | malignant_melanoma | Substitution - coding silent |
c.1201G>T; p.G401C; 1:169728136-169728136 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.1524G>A; p.G508G; 1:169727470-169727470 |
skin | malignant_melanoma | Substitution - coding silent |
c.959C>T; p.S320F; 1:169729317-169729317 |
skin | malignant_melanoma | Substitution - Missense |
c.959C>T; p.S320F; 1:169729317-169729317 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.919G>A; p.V307I; 1:169729357-169729357 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.769C>T; p.Q257*; 1:169729620-169729620 |
skin | malignant_melanoma | Substitution - Nonsense |
c.344A>G; p.Y115C; 1:169732692-169732692 |
prostate | carcinoma | Substitution - Missense |
c.107C>A; p.A36D; 1:169732929-169732929 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.631G>A; p.D211N; 1:169730516-169730516 |
skin | malignant_melanoma | Substitution - Missense |
c.182C>T; p.S61F; 1:169732854-169732854 |
skin | malignant_melanoma | Substitution - Missense |
c.883G>A; p.E295K; 1:169729506-169729506 |
skin | malignant_melanoma | Substitution - Missense |
c.182C>T; p.S61F; 1:169732854-169732854 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.645G>T; p.L215L; 1:169730502-169730502 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.922C>T; p.R308C; 1:169729354-169729354 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.454G>T; p.G152C; 1:169731910-169731910 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874T>C; p.W292R; 1:169729515-169729515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.627C>A; p.S209R; 1:169730520-169730520 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.83C>T; p.T28M; 1:169732953-169732953 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.727G>A; p.D243N; 1:169729662-169729662 |
breast | carcinoma | Substitution - Missense |
c.1248G>A; p.G416G; 1:169728089-169728089 |
skin | malignant_melanoma | Substitution - coding silent |
c.1321G>A; p.V441M; 1:169727886-169727886 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1667C>T; p.P556L; 1:169726785-169726785 |
skin | malignant_melanoma | Substitution - Missense |
c.1268C>T; p.P423L; 1:169728069-169728069 |
skin | malignant_melanoma | Substitution - Missense |
c.1386G>A; p.E462E; 1:169727821-169727821 |
skin | malignant_melanoma | Substitution - coding silent |
c.360A>T; p.K120N; 1:169732676-169732676 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.199C>T; p.P67S; 1:169732837-169732837 |
skin | malignant_melanoma | Substitution - Missense |
c.1289G>A; p.C430Y; 1:169727918-169727918 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.183C>T; p.S61S; 1:169732853-169732853 |
skin | malignant_melanoma | Substitution - coding silent |
c.1031C>T; p.P344L; 1:169729245-169729245 |
skin | malignant_melanoma | Substitution - Missense |
c.1456C>T; p.P486S; 1:169727751-169727751 |
skin | malignant_melanoma | Substitution - Missense |
c.1279+1G>A; p.?; 1:169728057-169728057 |
skin; trunk | malignant_melanoma | Unknown |
c.773A>G; p.N258S; 1:169729616-169729616 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.438A>G; p.T146T; 1:169731926-169731926 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1021T>A; p.L341M; 1:169729255-169729255 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.549G>A; p.L183L; 1:169730598-169730598 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.967G>A; p.G323R; 1:169729309-169729309 |
skin | malignant_melanoma | Substitution - Missense |
c.1182T>C; p.C394C; 1:169728155-169728155 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.526C>A; p.Q176K; 1:169731838-169731838 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1580A>G; p.N527S; 1:169727414-169727414 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>C; p.E277Q; 1:169729560-169729560 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1164C>T; p.F388F; 1:169728173-169728173 |
skin | malignant_melanoma | Substitution - coding silent |
c.766T>A; p.F256I; 1:169729623-169729623 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.893C>T; p.T298M; 1:169729496-169729496 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.893C>T; p.T298M; 1:169729496-169729496 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1479T>G; p.C493W; 1:169727515-169727515 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1311G>A; p.P437P; 1:169727896-169727896 |
skin | malignant_melanoma | Substitution - coding silent |
c.1290C>T; p.C430C; 1:169727917-169727917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1290C>T; p.C430C; 1:169727917-169727917 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1311G>A; p.P437P; 1:169727896-169727896 |
skin | malignant_melanoma | Substitution - coding silent |
c.1290C>T; p.C430C; 1:169727917-169727917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1800T>C; p.D600D; 1:169725777-169725777 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1311G>A; p.P437P; 1:169727896-169727896 |
stomach | adenocarcinoma | Substitution - coding silent |
c.1311G>A; p.P437P; 1:169727896-169727896 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.885G>A; p.E295E; 1:169729504-169729504 |
breast | carcinoma | Substitution - coding silent |
c.1311G>A; p.P437P; 1:169727896-169727896 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.135A>C; p.T45T; 1:169732901-169732901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.756C>T; p.F252F; 1:169729633-169729633 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.756C>T; p.F252F; 1:169729633-169729633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.756C>T; p.F252F; 1:169729633-169729633 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.756C>T; p.F252F; 1:169729633-169729633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.445A>C; p.S149R; 1:169731919-169731919 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.756C>T; p.F252F; 1:169729633-169729633 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1190C>T; p.S397F; 1:169728147-169728147 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.781A>G; p.S261G; 1:169729608-169729608 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1171G>C; p.G391R; 1:169728166-169728166 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.197C>T; p.S66L; 1:169732839-169732839 |
skin | malignant_melanoma | Substitution - Missense |
c.708C>A; p.A236A; 1:169730439-169730439 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.84G>A; p.T28T; 1:169732952-169732952 |
skin | malignant_melanoma | Substitution - coding silent |
c.565G>A; p.G189R; 1:169730582-169730582 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.565G>A; p.G189R; 1:169730582-169730582 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.968G>A; p.G323E; 1:169729308-169729308 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1435G>A; p.G479R; 1:169727772-169727772 |
skin | malignant_melanoma | Substitution - Missense |
c.620C>A; p.S207Y; 1:169730527-169730527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.882C>T; p.N294N; 1:169729507-169729507 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.975C>T; p.F325F; 1:169729301-169729301 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.37G>T; p.V13L; 1:169733576-169733576 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1432C>T; p.Q478*; 1:169727775-169727775 |
breast | carcinoma | Substitution - Nonsense |
c.611C>A; p.S204Y; 1:169730536-169730536 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745G>T; p.A249S; 1:169729644-169729644 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.273A>G; p.T91T; 1:169732763-169732763 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.593G>A; p.G198E; 1:169730554-169730554 |
skin | malignant_melanoma | Substitution - Missense |
c.1220C>T; p.S407F; 1:169728117-169728117 |
skin | malignant_melanoma | Substitution - Missense |
c.1123C>T; p.R375*; 1:169728214-169728214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1123C>T; p.R375*; 1:169728214-169728214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1723C>A; p.L575I; 1:169726729-169726729 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1077C>T; p.I359I; 1:169729199-169729199 |
skin | malignant_melanoma | Substitution - coding silent |
c.1242delC; p.T415fs*14; 1:169728095-169728095 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1723C>A; p.L575I; 1:169726729-169726729 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.41T>G; p.L14R; 1:169732995-169732995 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1062G>A; p.Q354Q; 1:169729214-169729214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.955C>T; p.H319Y; 1:169729321-169729321 |
skin; upper_arm | malignant_melanoma | Substitution - Missense |
c.961C>T; p.P321S; 1:169729315-169729315 |
skin | malignant_melanoma | Substitution - Missense |
c.1722delT; p.L575fs*>36; 1:169726730-169726730 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.305C>T; p.P102L; 1:169732731-169732731 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1058G>A; p.G353E; 1:169729218-169729218 |
skin | malignant_melanoma | Substitution - Missense |
c.756C>A; p.F252L; 1:169729633-169729633 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.337G>A; p.E113K; 1:169732699-169732699 |
skin | malignant_melanoma | Substitution - Missense |
c.792G>A; p.W264*; 1:169729597-169729597 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1302C>A; p.H434Q; 1:169727905-169727905 |
pancreas | carcinoma | Substitution - Missense |
c.544G>A; p.A182T; 1:169730603-169730603 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1302C>A; p.H434Q; 1:169727905-169727905 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.494G>T; p.C165F; 1:169731870-169731870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1530C>G; p.P510P; 1:169727464-169727464 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1796C>T; p.S599L; 1:169725781-169725781 |
skin | malignant_melanoma | Substitution - Missense |
c.715G>A; p.V239M; 1:169730432-169730432 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.642C>A; p.Y214*; 1:169730505-169730505 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.786C>T; p.F262F; 1:169729603-169729603 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1390G>A; p.G464R; 1:169727817-169727817 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.757G>A; p.V253M; 1:169729632-169729632 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.844C>A; p.Q282K; 1:169729545-169729545 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1498G>A; p.G500R; 1:169727496-169727496 |
skin | malignant_melanoma | Substitution - Missense |
c.422-2A>G; p.?; 1:169731944-169731944 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1541C>G; p.T514S; 1:169727453-169727453 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.545C>T; p.A182V; 1:169730602-169730602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1420G>C; p.E474Q; 1:169727787-169727787 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.124C>G; p.Q42E; 1:169732912-169732912 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1735C>T; p.R579W; 1:169726717-169726717 |
skin | malignant_melanoma | Substitution - Missense |
c.1672G>T; p.V558L; 1:169726780-169726780 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1279+2T>C; p.?; 1:169728056-169728056 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.1279+2T>C; p.?; 1:169728056-169728056 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.333C>T; p.C111C; 1:169732703-169732703 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1594C>A; p.R532R; 1:169727400-169727400 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1136A>C; p.N379T; 1:169728201-169728201 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1598C>T; p.T533I; 1:169727396-169727396 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1573A>G; p.T525A; 1:169727421-169727421 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1303C>A; p.Q435K; 1:169727904-169727904 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181G>T; p.C394F; 1:169728156-169728156 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.999C>T; p.F333F; 1:169729277-169729277 |
skin | malignant_melanoma | Substitution - coding silent |
c.246C>G; p.V82V; 1:169732790-169732790 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.680C>T; p.S227F; 1:169730467-169730467 |
skin | malignant_melanoma | Substitution - Missense |
c.1353C>T; p.F451F; 1:169727854-169727854 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.454G>A; p.G152S; 1:169731910-169731910 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.879C>A; p.D293E; 1:169729510-169729510 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1230C>T; p.L410L; 1:169728107-169728107 |
skin | malignant_melanoma | Substitution - coding silent |
c.1230C>T; p.L410L; 1:169728107-169728107 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1814A>G; p.K605R; 1:169725763-169725763 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.850C>T; p.L284F; 1:169729539-169729539 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1402C>T; p.H468Y; 1:169727805-169727805 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.H468Y; 1:169727805-169727805 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.H468Y; 1:169727805-169727805 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1216G>A; p.G406R; 1:169728121-169728121 |
skin | malignant_melanoma | Substitution - Missense |
c.1576C>T; p.L526F; 1:169727418-169727418 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.251T>C; p.V84A; 1:169732785-169732785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.603C>A; p.S201R; 1:169730544-169730544 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.251T>C; p.V84A; 1:169732785-169732785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.529+1G>C; p.?; 1:169731834-169731834 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Unknown |
c.1340C>T; p.P447L; 1:169727867-169727867 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1353C>A; p.F451L; 1:169727854-169727854 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009G>A; p.E337K; 1:169729267-169729267 |
skin | malignant_melanoma | Substitution - Missense |
c.675G>A; p.M225I; 1:169730472-169730472 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1124G>A; p.R375Q; 1:169728213-169728213 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1563T>G; p.P521P; 1:169727431-169727431 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.428G>T; p.C143F; 1:169731936-169731936 |
skin | malignant_melanoma | Substitution - Missense |
c.1008G>A; p.E336E; 1:169729268-169729268 |
prostate | carcinoma | Substitution - coding silent |
c.1488G>T; p.L496L; 1:169727506-169727506 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1279+3A>G; p.?; 1:169728055-169728055 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.1291G>A; p.D431N; 1:169727916-169727916 |
skin | malignant_melanoma | Substitution - Missense |
c.579C>A; p.C193*; 1:169730568-169730568 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1017C>T; p.F339F; 1:169729259-169729259 |
skin | malignant_melanoma | Substitution - coding silent |
c.796A>T; p.T266S; 1:169729593-169729593 |
oesophagus | carcinoma | Substitution - Missense |
c.208T>C; p.Y70H; 1:169732828-169732828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.400A>C; p.K134Q; 1:169732636-169732636 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.800C>G; p.T267S; 1:169729589-169729589 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1697T>C; p.L566P; 1:169726755-169726755 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1314G>A; p.K438K; 1:169727893-169727893 |
skin | malignant_melanoma | Substitution - coding silent |
c.591G>A; p.L197L; 1:169730556-169730556 |
skin | malignant_melanoma | Substitution - coding silent |
c.69T>C; p.S23S; 1:169732967-169732967 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.406G>A; p.A136T; 1:169732630-169732630 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1386G>T; p.E462D; 1:169727821-169727821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1823A>G; p.Y608C; 1:169725754-169725754 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.1166G>A; p.R389H; 1:169728171-169728171 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1166G>A; p.R389H; 1:169728171-169728171 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1481C>T; p.S494L; 1:169727513-169727513 |
skin | malignant_melanoma | Substitution - Missense |
c.274G>A; p.E92K; 1:169732762-169732762 |
skin | malignant_melanoma | Substitution - Missense |
c.1648C>T; p.P550S; 1:169726804-169726804 |
skin | malignant_melanoma | Substitution - Missense |
c.1544T>A; p.V515E; 1:169727450-169727450 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.166A>G; p.I56V; 1:169732870-169732870 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.715+1G>A; p.?; 1:169730431-169730431 |
skin | malignant_melanoma | Unknown |
c.1525G>A; p.E509K; 1:169727469-169727469 |
skin | malignant_melanoma | Substitution - Missense |
c.1548C>A; p.C516*; 1:169727446-169727446 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.252A>T; p.V84V; 1:169732784-169732784 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |