| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 5159 |
Name | PDGFRB |
Synonymous | platelet-derived growth factor receptor, beta polypeptide;PDGFRB;platelet-derived growth factor receptor, beta polypeptide |
Definition | CD140 antigen-like family member B|PDGF-R-beta|PDGFR-beta|beta-type platelet-derived growth factor receptor|platelet-derived growth factor receptor 1|platelet-derived growth factor receptor beta |
Position | 5q33.1 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1853C>T; p.T618M; 5:150124786-150124786 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2601A>G; p.L867L; 5:150120109-150120109 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2483C>T; p.A828V; 5:150120991-150120991 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2483C>T; p.A828V; 5:150120991-150120991 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.2564C>G; p.S855W; 5:150120910-150120910 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1810C>T; p.R604C; 5:150124829-150124829 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.240C>A; p.T80T; 5:150135679-150135679 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2280C>T; p.D760D; 5:150121944-150121944 |
breast | carcinoma | Substitution - coding silent |
c.3211G>A; p.E1071K; 5:150115873-150115873 |
breast | carcinoma | Substitution - Missense |
c.871T>C; p.C291R; 5:150133649-150133649 |
breast | carcinoma | Substitution - Missense |
c.1854G>A; p.T618T; 5:150124785-150124785 |
breast | carcinoma | Substitution - coding silent |
c.1303C>T; p.R435C; 5:150130603-150130603 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.1359C>A; p.D453E; 5:150130547-150130547 |
breast | carcinoma | Substitution - Missense |
c.1858C>T; p.H620Y; 5:150124781-150124781 |
breast | carcinoma | Substitution - Missense |
c.2918T>G; p.V973G; 5:150117837-150117837 |
breast | carcinoma | Substitution - Missense |
c.2645C>T; p.T882I; 5:150120065-150120065 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2645C>T; p.T882I; 5:150120065-150120065 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.760-1G>C; p.?; 5:150133761-150133761 |
breast | carcinoma | Unknown |
c.1310G>A; p.R437H; 5:150130596-150130596 |
breast | carcinoma | Substitution - Missense |
c.2326G>A; p.D776N; 5:150121898-150121898 |
breast | carcinoma | Substitution - Missense |
c.996G>C; p.R332R; 5:150132881-150132881 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - coding silent |
c.1044C>T; p.V348V; 5:150132833-150132833 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2765G>A; p.R922H; 5:150119500-150119500 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1859A>T; p.H620L; 5:150124780-150124780 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.734T>G; p.F245C; 5:150133906-150133906 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.1949C>T; p.S650L; 5:150124324-150124324 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1949C>T; p.S650L; 5:150124324-150124324 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1949C>T; p.S650L; 5:150124324-150124324 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2298C>A; p.I766I; 5:150121926-150121926 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3057C>T; p.N1019N; 5:150117698-150117698 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1619C>T; p.A540V; 5:150126575-150126575 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460C>T; p.P154S; 5:150134921-150134921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2911C>A; p.Q971K; 5:150117844-150117844 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2819G>A; p.C940Y; 5:150118832-150118832 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2574C>A; p.I858I; 5:150120900-150120900 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2545C>T; p.R849*; 5:150120929-150120929 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1252C>T; p.R418*; 5:150130654-150130654 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2325C>T; p.Y775Y; 5:150121899-150121899 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2467G>A; p.V823I; 5:150121007-150121007 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2431G>A; p.A811T; 5:150121236-150121236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.885G>A; p.E295E; 5:150133635-150133635 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2770G>A; p.A924T; 5:150119495-150119495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.719A>G; p.N240S; 5:150133921-150133921 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.186G>A; p.W62*; 5:150135733-150135733 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1208C>T; p.A403V; 5:150132014-150132014 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2755C>T; p.R919W; 5:150119510-150119510 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3187C>T; p.P1063S; 5:150115897-150115897 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2137G>A; p.A713T; 5:150123088-150123088 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1810C>T; p.R604C; 5:150124829-150124829 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3128G>T; p.S1043I; 5:150117627-150117627 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; angioimmunoblastic_T_cell_lymphoma | Substitution - Missense |
c.2281G>A; p.V761I; 5:150121943-150121943 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2316G>A; p.M772I; 5:150121908-150121908 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.263C>T; p.T88I; 5:150135656-150135656 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.742A>G; p.T248A; 5:150133898-150133898 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.343C>T; p.R115W; 5:150135576-150135576 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.831C>A; p.H277Q; 5:150133689-150133689 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.2625C>T; p.I875I; 5:150120085-150120085 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.3275C>T; p.S1092L; 5:150115809-150115809 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.1743C>T; p.Y581Y; 5:150125509-150125509 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - coding silent |
c.1698G>T; p.W566C; 5:150125554-150125554 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.400G>T; p.E134*; 5:150134981-150134981 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2664C>T; p.S888S; 5:150120046-150120046 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1635C>G; p.T545T; 5:150126559-150126559 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1770C>T; p.D590D; 5:150125482-150125482 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1769A>C; p.D590A; 5:150125483-150125483 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.231G>C; p.Q77H; 5:150135688-150135688 |
kidney | other; neoplasm | Substitution - Missense |
c.1617G>A; p.L539L; 5:150126577-150126577 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1193C>A; p.A398D; 5:150132029-150132029 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1043T>C; p.V348A; 5:150132834-150132834 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3034G>A; p.V1012M; 5:150117721-150117721 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189C>T; p.R397W; 5:150132033-150132033 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3058G>A; p.D1020N; 5:150117697-150117697 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106C>T; p.T369M; 5:150132771-150132771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106C>T; p.T369M; 5:150132771-150132771 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1096G>A; p.A366T; 5:150132781-150132781 |
large_intestine; colon | NS | Substitution - Missense |
c.1106C>T; p.T369M; 5:150132771-150132771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2783A>G; p.H928R; 5:150119482-150119482 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1498G>A; p.V500M; 5:150129838-150129838 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3287C>T; p.A1096V; 5:150115797-150115797 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1767T>C; p.Y589Y; 5:150125485-150125485 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3270G>A; p.P1090P; 5:150115814-150115814 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2053C>T; p.R685C; 5:150123172-150123172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3270G>A; p.P1090P; 5:150115814-150115814 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3270G>A; p.P1090P; 5:150115814-150115814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3270G>A; p.P1090P; 5:150115814-150115814 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.177G>A; p.P59P; 5:150135742-150135742 |
large_intestine; colon | NS | Substitution - coding silent |
c.289G>T; p.E97*; 5:150135630-150135630 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3163T>A; p.S1055T; 5:150115921-150115921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.608C>T; p.A203V; 5:150134773-150134773 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.967G>T; p.G323C; 5:150132910-150132910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.12G>A; p.P4P; 5:150137036-150137036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1897G>A; p.V633I; 5:150124742-150124742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1854G>A; p.T618T; 5:150124785-150124785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3073delC; p.L1025fs*20; 5:150117682-150117682 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.141C>T; p.S47S; 5:150135778-150135778 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1789C>T; p.R597W; 5:150125463-150125463 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122C>T; p.R708C; 5:150123103-150123103 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2886G>C; p.L962F; 5:150118765-150118765 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.540T>A; p.S180S; 5:150134841-150134841 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.752G>A; p.R251H; 5:150133888-150133888 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1776G>A; p.T592T; 5:150125476-150125476 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1925G>A; p.S642N; 5:150124348-150124348 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.17C>T; p.A6V; 5:150137031-150137031 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.757G>T; p.E253*; 5:150133883-150133883 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.757G>T; p.E253*; 5:150133883-150133883 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2546G>A; p.R849Q; 5:150120928-150120928 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.401A>G; p.E134G; 5:150134980-150134980 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2957T>C; p.L986P; 5:150117798-150117798 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2547A>G; p.R849R; 5:150120927-150120927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3293G>A; p.R1098Q; 5:150115791-150115791 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2557C>T; p.R853W; 5:150120917-150120917 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2655C>T; p.D885D; 5:150120055-150120055 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.250G>A; p.V84M; 5:150135669-150135669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3053A>G; p.D1018G; 5:150117702-150117702 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.505C>T; p.L169L; 5:150134876-150134876 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.587A>G; p.D196G; 5:150134794-150134794 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1035G>A; p.P345P; 5:150132842-150132842 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1766A>G; p.Y589C; 5:150125486-150125486 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3057C>T; p.N1019N; 5:150117698-150117698 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.464A>G; p.Q155R; 5:150134917-150134917 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.545T>C; p.I182T; 5:150134836-150134836 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.934G>A; p.E312K; 5:150133586-150133586 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1948T>C; p.S650P; 5:150124325-150124325 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1800T>C; p.L600L; 5:150125452-150125452 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1892T>C; p.V631A; 5:150124747-150124747 |
liver | carcinoma | Substitution - Missense |
c.1892T>C; p.V631A; 5:150124747-150124747 |
liver | carcinoma | Substitution - Missense |
c.1021G>A; p.E341K; 5:150132856-150132856 |
liver | carcinoma | Substitution - Missense |
c.3219G>T; p.E1073D; 5:150115865-150115865 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1084G>A; p.A362T; 5:150132793-150132793 |
liver | carcinoma | Substitution - Missense |
c.2123G>T; p.R708L; 5:150123102-150123102 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1994T>C; p.V665A; 5:150124279-150124279 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1692C>A; p.I564I; 5:150125560-150125560 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.934+1G>T; p.?; 5:150133585-150133585 |
lung | carcinoma; adenocarcinoma | Unknown |
c.632-1G>T; p.?; 5:150134009-150134009 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.2558G>C; p.R853P; 5:150120916-150120916 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1938A>T; p.Q646H; 5:150124335-150124335 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.411C>G; p.I137M; 5:150134970-150134970 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.546C>G; p.I182M; 5:150134835-150134835 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1536C>A; p.N512K; 5:150129800-150129800 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1228C>A; p.Q410K; 5:150131994-150131994 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.457G>C; p.D153H; 5:150134924-150134924 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1634C>T; p.T545I; 5:150126560-150126560 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2012G>A; p.C671Y; 5:150124261-150124261 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.526C>A; p.Q176K; 5:150134855-150134855 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.108A>T; p.T36T; 5:150135811-150135811 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.463C>T; p.Q155*; 5:150134918-150134918 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.63C>A; p.L21L; 5:150135856-150135856 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1939G>T; p.A647S; 5:150124334-150124334 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1790G>A; p.R597Q; 5:150125462-150125462 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2850C>A; p.P950P; 5:150118801-150118801 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2156C>T; p.A719V; 5:150123069-150123069 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1884G>A; p.T628T; 5:150124755-150124755 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3034G>T; p.V1012L; 5:150117721-150117721 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.43G>T; p.E15*; 5:150135876-150135876 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1934A>C; p.K645T; 5:150124339-150124339 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.61C>T; p.L21F; 5:150135858-150135858 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.151G>T; p.V51F; 5:150135768-150135768 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2200G>T; p.G734W; 5:150122024-150122024 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1779G>T; p.W593C; 5:150125473-150125473 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3236A>T; p.Q1079L; 5:150115848-150115848 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1178A>C; p.H393P; 5:150132044-150132044 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1697G>T; p.W566L; 5:150125555-150125555 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2565G>A; p.S855S; 5:150120909-150120909 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1028A>C; p.Y343S; 5:150132849-150132849 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.34C>G; p.L12V; 5:150137014-150137014 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2024G>A; p.G675E; 5:150123201-150123201 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2545C>G; p.R849G; 5:150120929-150120929 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.621C>T; p.Y207Y; 5:150134760-150134760 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.621C>T; p.Y207Y; 5:150134760-150134760 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2526C>T; p.I842I; 5:150120948-150120948 |
pancreas | carcinoma | Substitution - coding silent |
c.1871A>T; p.H624L; 5:150124768-150124768 |
pancreas | carcinoma | Substitution - Missense |
c.2597C>T; p.P866L; 5:150120113-150120113 |
pancreas | carcinoma | Substitution - Missense |
c.2557C>T; p.R853W; 5:150120917-150120917 |
pancreas | carcinoma | Substitution - Missense |
c.2557C>T; p.R853W; 5:150120917-150120917 |
pancreas | carcinoma | Substitution - Missense |
c.317G>A; p.R106H; 5:150135602-150135602 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.285G>T; p.T95T; 5:150135634-150135634 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2301G>C; p.E767D; 5:150121923-150121923 |
prostate | carcinoma | Substitution - Missense |
c.1107G>A; p.T369T; 5:150132770-150132770 |
prostate | carcinoma | Substitution - coding silent |
c.42C>T; p.G14G; 5:150135877-150135877 |
prostate | carcinoma | Substitution - coding silent |
c.572A>T; p.K191I; 5:150134809-150134809 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.572A>T; p.K191I; 5:150134809-150134809 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1000C>T; p.R334W; 5:150132877-150132877 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.592G>A; p.E198K; 5:150134789-150134789 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2224G>A; p.D742N; 5:150122000-150122000 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.2989G>A; p.G997S; 5:150117766-150117766 |
skin | malignant_melanoma | Substitution - Missense |
c.1189C>T; p.R397W; 5:150132033-150132033 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3148A>C; p.N1050H; 5:150115936-150115936 |
skin | malignant_melanoma | Substitution - Missense |
c.3011C>T; p.T1004I; 5:150117744-150117744 |
skin | malignant_melanoma | Substitution - Missense |
c.3205G>A; p.E1069K; 5:150115879-150115879 |
skin | malignant_melanoma | Substitution - Missense |
c.3205G>A; p.E1069K; 5:150115879-150115879 |
skin | malignant_melanoma | Substitution - Missense |
c.3270G>A; p.P1090P; 5:150115814-150115814 |
skin | malignant_melanoma | Substitution - coding silent |
c.3124C>T; p.P1042S; 5:150117631-150117631 |
skin | malignant_melanoma | Substitution - Missense |
c.994C>T; p.R332W; 5:150132883-150132883 |
skin | malignant_melanoma | Substitution - Missense |
c.3042C>T; p.P1014P; 5:150117713-150117713 |
skin | malignant_melanoma | Substitution - coding silent |
c.2808C>T; p.I936I; 5:150118843-150118843 |
skin | malignant_melanoma | Substitution - coding silent |
c.1950_1951GG>TA; p.E651K; 5:150124322-150124323 |
skin | malignant_melanoma | Substitution - Missense |
c.1950_1951GG>TA; p.E651K; 5:150124322-150124323 |
skin | malignant_melanoma | Substitution - Missense |
c.2384C>T; p.S795F; 5:150121283-150121283 |
skin | malignant_melanoma | Substitution - Missense |
c.2428G>A; p.V810M; 5:150121239-150121239 |
skin | malignant_melanoma | Substitution - Missense |
c.2205G>A; p.E735E; 5:150122019-150122019 |
skin | malignant_melanoma | Substitution - coding silent |
c.1674+1G>A; p.?; 5:150126519-150126519 |
skin; face | carcinoma; squamous_cell_carcinoma | Unknown |
c.166G>A; p.G56S; 5:150135753-150135753 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2059G>A; p.G687R; 5:150123166-150123166 |
skin | malignant_melanoma | Substitution - Missense |
c.2691C>T; p.F897F; 5:150120019-150120019 |
skin | malignant_melanoma | Substitution - coding silent |
c.3292C>T; p.R1098W; 5:150115792-150115792 |
skin | malignant_melanoma | Substitution - Missense |
c.1611C>T; p.A537A; 5:150126583-150126583 |
skin | malignant_melanoma | Substitution - coding silent |
c.2059G>A; p.G687R; 5:150123166-150123166 |
skin | malignant_melanoma | Substitution - Missense |
c.1212G>A; p.E404E; 5:150132010-150132010 |
skin | malignant_melanoma | Substitution - coding silent |
c.1773C>T; p.S591S; 5:150125479-150125479 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2116G>A; p.D706N; 5:150123109-150123109 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1291G>A; p.E431K; 5:150130615-150130615 |
skin | malignant_melanoma | Substitution - Missense |
c.2174C>T; p.P725L; 5:150123051-150123051 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.40G>A; p.G14S; 5:150137008-150137008 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1692C>T; p.I564I; 5:150125560-150125560 |
skin | malignant_melanoma | Substitution - coding silent |
c.384C>G; p.L128L; 5:150134997-150134997 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.628C>T; p.Q210*; 5:150134753-150134753 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.206C>T; p.P69L; 5:150135713-150135713 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.186G>A; p.W62*; 5:150135733-150135733 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3120T>G; p.G1040G; 5:150117635-150117635 |
skin | malignant_melanoma | Substitution - coding silent |
c.2699-3C>A; p.?; 5:150119569-150119569 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3017C>T; p.S1006F; 5:150117738-150117738 |
skin | malignant_melanoma | Substitution - Missense |
c.2874C>T; p.L958L; 5:150118777-150118777 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3098C>T; p.A1033V; 5:150117657-150117657 |
skin | malignant_melanoma | Substitution - Missense |
c.1303C>G; p.R435G; 5:150130603-150130603 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.735C>T; p.F245F; 5:150133905-150133905 |
skin | malignant_melanoma | Substitution - coding silent |
c.2338_2339CC>TT; p.P780F; 5:150121885-150121886 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1461G>A; p.Q487Q; 5:150129875-150129875 |
skin | malignant_melanoma | Substitution - coding silent |
c.1368-1G>A; p.?; 5:150129969-150129969 |
skin | malignant_melanoma | Unknown |
c.2114C>T; p.S705F; 5:150123111-150123111 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.1090G>A; p.E364K; 5:150132787-150132787 |
skin | malignant_melanoma | Substitution - Missense |
c.860G>A; p.G287E; 5:150133660-150133660 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2368A>G; p.T790A; 5:150121299-150121299 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1614C>T; p.I538I; 5:150126580-150126580 |
skin | malignant_melanoma | Substitution - coding silent |
c.853G>A; p.D285N; 5:150133667-150133667 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586G>A; p.D196N; 5:150134795-150134795 |
skin | malignant_melanoma | Substitution - Missense |
c.714C>G; p.I238M; 5:150133926-150133926 |
skin | malignant_melanoma | Substitution - Missense |
c.2356A>G; p.T786A; 5:150121311-150121311 |
skin | malignant_melanoma | Substitution - Missense |
c.792C>T; p.F264F; 5:150133728-150133728 |
skin | malignant_melanoma | Substitution - coding silent |
c.3289C>T; p.P1097S; 5:150115795-150115795 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1141C>T; p.L381L; 5:150132081-150132081 |
skin | malignant_melanoma | Substitution - coding silent |
c.3122C>T; p.S1041F; 5:150117633-150117633 |
skin | malignant_melanoma | Substitution - Missense |
c.1372C>T; p.P458S; 5:150129964-150129964 |
skin | malignant_melanoma | Substitution - Missense |
c.2139G>A; p.A713A; 5:150123086-150123086 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2669G>A; p.G890E; 5:150120041-150120041 |
skin | malignant_melanoma | Substitution - Missense |
c.3176C>T; p.S1059F; 5:150115908-150115908 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1587C>T; p.P529P; 5:150126607-150126607 |
skin | malignant_melanoma | Substitution - coding silent |
c.1246C>T; p.P416S; 5:150130660-150130660 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3001C>T; p.P1001S; 5:150117754-150117754 |
skin | malignant_melanoma | Substitution - Missense |
c.2252A>G; p.Y751C; 5:150121972-150121972 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.317G>A; p.R106H; 5:150135602-150135602 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2810T>C; p.M937T; 5:150118841-150118841 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2844G>C; p.R948R; 5:150118807-150118807 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.96C>A; p.G32G; 5:150135823-150135823 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.502G>T; p.A168S; 5:150134879-150134879 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2601A>G; p.L867L; 5:150120109-150120109 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1168G>A; p.E390K; 5:150132054-150132054 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2971C>T; p.R991C; 5:150117784-150117784 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2333A>G; p.Y778C; 5:150121891-150121891 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2467G>A; p.V823I; 5:150121007-150121007 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.732C>A; p.N244K; 5:150133908-150133908 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2744A>G; p.N915S; 5:150119521-150119521 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765T>C; p.Y589H; 5:150125487-150125487 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765T>C; p.Y589H; 5:150125487-150125487 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765T>C; p.Y589H; 5:150125487-150125487 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1765T>C; p.Y589H; 5:150125487-150125487 |
stomach | adenocarcinoma | Substitution - Missense |
c.1391C>T; p.T464M; 5:150129945-150129945 |
stomach | carcinoma | Substitution - Missense |
c.2203G>A; p.E735K; 5:150122021-150122021 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.449G>A; p.R150Q; 5:150134932-150134932 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2129C>T; p.P710L; 5:150123096-150123096 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2889C>T; p.G963G; 5:150118762-150118762 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1611C>A; p.A537A; 5:150126583-150126583 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3252A>G; p.P1084P; 5:150115832-150115832 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1709A>C; p.E570A; 5:150125543-150125543 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.818G>A; p.R273H; 5:150133702-150133702 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.663G>A; p.V221V; 5:150133977-150133977 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3137+4A>G; p.?; 5:150117614-150117614 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1264C>G; p.L422V; 5:150130642-150130642 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2084G>A; p.R695H; 5:150123141-150123141 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2601A>G; p.L867L; 5:150120109-150120109 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2102T>A; p.L701Q; 5:150123123-150123123 |
thyroid | other; neoplasm | Substitution - Missense |
c.2100C>T; p.F700F; 5:150123125-150123125 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2413G>A; p.G805S; 5:150121254-150121254 |
thyroid | carcinoma | Substitution - Missense |
c.1999C>A; p.L667M; 5:150124274-150124274 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.509C>T; p.P170L; 5:150134872-150134872 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.509C>T; p.P170L; 5:150134872-150134872 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2904+1G>T; p.?; 5:150118746-150118746 |
urinary_tract; bladder | carcinoma | Unknown |
c.752G>A; p.R251H; 5:150133888-150133888 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.752G>A; p.R251H; 5:150133888-150133888 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1314C>T; p.G438G; 5:150130592-150130592 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1314C>T; p.G438G; 5:150130592-150130592 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.902A>G; p.Q301R; 5:150133618-150133618 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1781A>G; p.E594G; 5:150125471-150125471 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.250G>A; p.V84M; 5:150135669-150135669 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1912T>A; p.S638T; 5:150124727-150124727 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1912T>A; p.S638T; 5:150124727-150124727 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1674+1G>T; p.?; 5:150126519-150126519 |
urinary_tract; bladder | carcinoma | Unknown |
c.1674+1G>T; p.?; 5:150126519-150126519 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |