| General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction |
Basic Information | |||
|---|---|---|---|
Gene ID | 4017 | ||
Name | LOXL2 | ||
The somatic mutations from COSMIC database | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.714G>A; p.G238G; 8:23341021-23341021 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.376C>T; p.L126F; 8:23360245-23360245 |
skin | malignant_melanoma | Substitution - Missense |
c.252C>T; p.C84C; 8:23368100-23368100 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.615C>T; p.Y205Y; 8:23341120-23341120 |
breast | carcinoma | Substitution - coding silent |
c.709C>T; p.P237S; 8:23341026-23341026 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1661C>T; p.A554V; 8:23309887-23309887 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1590C>T; p.C530C; 8:23316995-23316995 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.565C>T; p.R189*; 8:23341170-23341170 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.463G>A; p.G155S; 8:23360158-23360158 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.565C>T; p.R189*; 8:23341170-23341170 |
skin | malignant_melanoma | Substitution - Nonsense |
c.565C>T; p.R189*; 8:23341170-23341170 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1329C>G; p.P443P; 8:23320026-23320026 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1432C>G; p.R478G; 8:23319923-23319923 |
skin | malignant_melanoma | Substitution - Missense |
c.160G>A; p.A54T; 8:23368192-23368192 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.160G>A; p.A54T; 8:23368192-23368192 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.939A>G; p.S313S; 8:23333428-23333428 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.160G>A; p.A54T; 8:23368192-23368192 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1696C>T; p.R566W; 8:23309852-23309852 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1696C>T; p.R566W; 8:23309852-23309852 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.298C>A; p.L100M; 8:23368054-23368054 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1696C>T; p.R566W; 8:23309852-23309852 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1696C>T; p.R566W; 8:23309852-23309852 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682C>T; p.T561I; 8:23309866-23309866 |
skin | malignant_melanoma | Substitution - Missense |
c.1165C>T; p.H389Y; 8:23322267-23322267 |
skin | malignant_melanoma | Substitution - Missense |
c.1508A>C; p.K503T; 8:23317077-23317077 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2265G>A; p.E755E; 8:23298103-23298103 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1378T>G; p.W460G; 8:23319977-23319977 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1698G>A; p.R566R; 8:23309850-23309850 |
prostate | carcinoma | Substitution - coding silent |
c.1416G>A; p.E472E; 8:23319939-23319939 |
skin | malignant_melanoma | Substitution - coding silent |
c.1246C>T; p.H416Y; 8:23322186-23322186 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.757C>T; p.R253W; 8:23333610-23333610 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.757C>T; p.R253W; 8:23333610-23333610 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1618G>A; p.G540R; 8:23316967-23316967 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.668C>T; p.T223M; 8:23341067-23341067 |
pancreas | carcinoma | Substitution - Missense |
c.283G>A; p.V95I; 8:23368069-23368069 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.165G>T; p.K55N; 8:23368187-23368187 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1727A>C; p.E576A; 8:23309821-23309821 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.342C>A; p.Y114*; 8:23368010-23368010 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.861G>T; p.K287N; 8:23333506-23333506 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.512C>T; p.S171L; 8:23360109-23360109 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.512C>T; p.S171L; 8:23360109-23360109 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.512C>T; p.S171L; 8:23360109-23360109 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.512C>T; p.S171L; 8:23360109-23360109 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1751C>T; p.A584V; 8:23309797-23309797 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.84C>A; p.D28E; 8:23368268-23368268 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.685G>A; p.V229M; 8:23341050-23341050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.685G>A; p.V229M; 8:23341050-23341050 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1599C>T; p.G533G; 8:23316986-23316986 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1599C>T; p.G533G; 8:23316986-23316986 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.865G>C; p.V289L; 8:23333502-23333502 |
kidney | other; neoplasm | Substitution - Missense |
c.650T>G; p.I217S; 8:23341085-23341085 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1195G>C; p.E399Q; 8:23322237-23322237 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.855_856insC; p.M286fs*25; 8:23333511-23333512 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1347G>T; p.E449D; 8:23320008-23320008 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.285C>T; p.V95V; 8:23368067-23368067 |
skin | malignant_melanoma | Substitution - coding silent |
c.1135T>C; p.S379P; 8:23328397-23328397 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005_1006GG>AA; p.E336K; 8:23328526-23328527 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1005_1006GG>AA; p.E336K; 8:23328526-23328527 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2154C>T; p.F718F; 8:23298927-23298927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2154C>T; p.F718F; 8:23298927-23298927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2154C>T; p.F718F; 8:23298927-23298927 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2154C>T; p.F718F; 8:23298927-23298927 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1572C>T; p.D524D; 8:23317013-23317013 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2293G>T; p.G765W; 8:23298075-23298075 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.947G>A; p.R316Q; 8:23333420-23333420 |
skin | malignant_melanoma | Substitution - Missense |
c.1567C>T; p.H523Y; 8:23317018-23317018 |
skin | malignant_melanoma | Substitution - Missense |
c.2293G>T; p.G765W; 8:23298075-23298075 |
prostate | adenoma | Substitution - Missense |
c.2079C>T; p.I693I; 8:23302081-23302081 |
breast | carcinoma | Substitution - coding silent |
c.452C>T; p.T151M; 8:23360169-23360169 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1726G>A; p.E576K; 8:23309822-23309822 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.616G>A; p.V206M; 8:23341119-23341119 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2318C>T; p.P773L; 8:23298050-23298050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.954G>A; p.A318A; 8:23333413-23333413 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2220C>T; p.R740R; 8:23298861-23298861 |
liver | carcinoma | Substitution - coding silent |
c.2068C>T; p.R690C; 8:23302092-23302092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.731C>T; p.T244I; 8:23341004-23341004 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2068C>T; p.R690C; 8:23302092-23302092 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.439G>A; p.D147N; 8:23360182-23360182 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.439G>A; p.D147N; 8:23360182-23360182 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.439G>A; p.D147N; 8:23360182-23360182 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2106C>T; p.D702D; 8:23302054-23302054 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1903T>C; p.F635L; 8:23303375-23303375 |
skin | malignant_melanoma | Substitution - Missense |
c.930C>T; p.D310D; 8:23333437-23333437 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1758G>A; p.Q586Q; 8:23309790-23309790 |
NS | malignant_melanoma | Substitution - coding silent |
c.1758G>A; p.Q586Q; 8:23309790-23309790 |
NS | malignant_melanoma | Substitution - coding silent |
c.1619G>A; p.G540E; 8:23316966-23316966 |
skin | malignant_melanoma | Substitution - Missense |
c.1619G>A; p.G540E; 8:23316966-23316966 |
skin | malignant_melanoma | Substitution - Missense |
c.855C>T; p.P285P; 8:23333512-23333512 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1076C>T; p.S359L; 8:23328456-23328456 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1076C>T; p.S359L; 8:23328456-23328456 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1367G>A; p.G456E; 8:23319988-23319988 |
bone; pelvis | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1570G>A; p.D524N; 8:23317015-23317015 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1447G>A; p.G483R; 8:23319908-23319908 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.630G>C; p.E210D; 8:23341105-23341105 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1774G>A; p.G592S; 8:23309774-23309774 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.674A>C; p.K225T; 8:23341061-23341061 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1774G>A; p.G592S; 8:23309774-23309774 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1390T>C; p.C464R; 8:23319965-23319965 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1523G>A; p.G508E; 8:23317062-23317062 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.931G>A; p.G311R; 8:23333436-23333436 |
skin | malignant_melanoma | Substitution - Missense |
c.931G>A; p.G311R; 8:23333436-23333436 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.453G>A; p.T151T; 8:23360168-23360168 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.592C>T; p.R198C; 8:23341143-23341143 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1689G>A; p.L563L; 8:23309859-23309859 |
skin | malignant_melanoma | Substitution - coding silent |
c.1432C>T; p.R478C; 8:23319923-23319923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1190G>T; p.G397V; 8:23322242-23322242 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1753G>A; p.A585T; 8:23309795-23309795 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.151G>A; p.A51T; 8:23368201-23368201 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.946C>T; p.R316W; 8:23333421-23333421 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.247G>A; p.V83M; 8:23368105-23368105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.176G>T; p.R59L; 8:23368176-23368176 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.693C>T; p.C231C; 8:23341042-23341042 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1410C>T; p.I470I; 8:23319945-23319945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1410C>T; p.I470I; 8:23319945-23319945 |
skin | malignant_melanoma | Substitution - coding silent |
c.1289G>A; p.G430D; 8:23322143-23322143 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1462G>A; p.A488T; 8:23319893-23319893 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1462G>A; p.A488T; 8:23319893-23319893 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.710C>T; p.P237L; 8:23341025-23341025 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.933A>G; p.G311G; 8:23333434-23333434 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.477C>T; p.S159S; 8:23360144-23360144 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1318G>T; p.G440C; 8:23320037-23320037 |
oesophagus | carcinoma | Substitution - Missense |
c.502T>C; p.F168L; 8:23360119-23360119 |
skin | malignant_melanoma | Substitution - Missense |
c.157G>A; p.V53M; 8:23368195-23368195 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.695G>A; p.G232D; 8:23341040-23341040 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.789G>A; p.M263I; 8:23333578-23333578 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1557G>A; p.A519A; 8:23317028-23317028 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.398C>T; p.A133V; 8:23360223-23360223 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.63C>A; p.P21P; 8:23368289-23368289 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.2211C>T; p.D737D; 8:23298870-23298870 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1221C>A; p.F407L; 8:23322211-23322211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1047C>T; p.T349T; 8:23328485-23328485 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1761C>T; p.T587T; 8:23309787-23309787 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.447G>C; p.K149N; 8:23360174-23360174 |
breast | carcinoma | Substitution - Missense |
c.566G>A; p.R189Q; 8:23341169-23341169 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2028C>T; p.F676F; 8:23302132-23302132 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1094G>A; p.R365K; 8:23328438-23328438 |
skin | malignant_melanoma | Substitution - Missense |
c.460G>T; p.V154F; 8:23360161-23360161 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1564C>T; p.R522C; 8:23317021-23317021 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1276A>C; p.T426P; 8:23322156-23322156 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005G>A; p.G335G; 8:23328527-23328527 |
skin | malignant_melanoma | Substitution - coding silent |
c.885A>G; p.L295L; 8:23333482-23333482 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.770G>A; p.R257H; 8:23333597-23333597 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1984G>A; p.E662K; 8:23303294-23303294 |
skin | malignant_melanoma | Substitution - Missense |
c.2260G>A; p.E754K; 8:23298108-23298108 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2260G>A; p.E754K; 8:23298108-23298108 |
skin | malignant_melanoma | Substitution - Missense |
c.29G>A; p.C10Y; 8:23368323-23368323 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.142_162del21; p.Q48_A54del; 8:23368190-23368210 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.1155C>T; p.I385I; 8:23322277-23322277 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.432C>T; p.G144G; 8:23360189-23360189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.432C>T; p.G144G; 8:23360189-23360189 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.215T>C; p.V72A; 8:23368137-23368137 |
skin | malignant_melanoma | Substitution - Missense |
c.432C>T; p.G144G; 8:23360189-23360189 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.432C>T; p.G144G; 8:23360189-23360189 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.356-7C>A; p.?; 8:23360272-23360272 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.719G>A; p.R240K; 8:23341016-23341016 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.271C>T; p.H91Y; 8:23368081-23368081 |
skin | malignant_melanoma | Substitution - Missense |
c.719G>A; p.R240K; 8:23341016-23341016 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1821C>T; p.G607G; 8:23309727-23309727 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1821C>T; p.G607G; 8:23309727-23309727 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.874G>A; p.E292K; 8:23333493-23333493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1581C>T; p.D527D; 8:23317004-23317004 |
liver | carcinoma | Substitution - coding silent |
c.990C>T; p.G330G; 8:23328542-23328542 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.384T>A; p.C128*; 8:23360237-23360237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1427T>C; p.V476A; 8:23319928-23319928 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1370C>G; p.S457C; 8:23319985-23319985 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.490C>T; p.P164S; 8:23360131-23360131 |
skin | malignant_melanoma | Substitution - Missense |
c.490C>T; p.P164S; 8:23360131-23360131 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.142_162del21; p.Q48_A54delQAPANVA; 8:23368190-23368210 |
breast | carcinoma; ductal_carcinoma | Deletion - In frame |
c.796A>G; p.T266A; 8:23333571-23333571 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307G>A; p.R436H; 8:23320048-23320048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196C; 8:23341149-23341149 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.586C>T; p.R196C; 8:23341149-23341149 |
pancreas | carcinoma | Substitution - Missense |
c.992G>C; p.G331A; 8:23328540-23328540 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.2070C>A; p.R690R; 8:23302090-23302090 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2187C>G; p.I729M; 8:23298894-23298894 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2187C>G; p.I729M; 8:23298894-23298894 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1725G>A; p.M575I; 8:23309823-23309823 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.724T>C; p.Y242H; 8:23341011-23341011 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2069G>A; p.R690H; 8:23302091-23302091 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1611C>T; p.Y537Y; 8:23316974-23316974 |
breast | carcinoma | Substitution - coding silent |
c.1827C>T; p.S609S; 8:23309721-23309721 |
skin | malignant_melanoma | Substitution - coding silent |
c.1845C>T; p.N615N; 8:23309703-23309703 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.11C>T; p.P4L; 8:23368341-23368341 |
skin | malignant_melanoma | Substitution - Missense |
c.253G>A; p.D85N; 8:23368099-23368099 |
skin | malignant_melanoma | Substitution - Missense |
c.1618G>T; p.G540*; 8:23316967-23316967 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.211C>T; p.R71W; 8:23368141-23368141 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.918C>A; p.V306V; 8:23333449-23333449 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1311G>A; p.L437L; 8:23320044-23320044 |
breast | carcinoma | Substitution - coding silent |
c.2276delA; p.K759fs*9; 8:23298092-23298092 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2276delA; p.K759fs*9; 8:23298092-23298092 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1038A>G; p.E346E; 8:23328494-23328494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1038A>G; p.E346E; 8:23328494-23328494 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.758G>A; p.R253Q; 8:23333609-23333609 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.6G>T; p.E2D; 8:23368346-23368346 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1953C>T; p.G651G; 8:23303325-23303325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.41C>T; p.A14V; 8:23368311-23368311 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.611G>A; p.G204D; 8:23341124-23341124 |
liver | carcinoma | Substitution - Missense |
c.611G>A; p.G204D; 8:23341124-23341124 |
liver | carcinoma | Substitution - Missense |
c.956A>G; p.Y319C; 8:23333411-23333411 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.694G>A; p.G232S; 8:23341041-23341041 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357G>A; p.E453K; 8:23319998-23319998 |
skin | malignant_melanoma | Substitution - Missense |
c.1748C>A; p.S583*; 8:23309800-23309800 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2158G>A; p.V720I; 8:23298923-23298923 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.684C>T; p.R228R; 8:23341051-23341051 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.120G>A; p.P40P; 8:23368232-23368232 |
thyroid | other; neoplasm | Substitution - coding silent |
c.120G>A; p.P40P; 8:23368232-23368232 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1740C>T; p.L580L; 8:23309808-23309808 |
thyroid | carcinoma | Substitution - coding silent |
c.156C>T; p.N52N; 8:23368196-23368196 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.433G>A; p.V145I; 8:23360188-23360188 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1461C>T; p.N487N; 8:23319894-23319894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1043G>A; p.G348E; 8:23328489-23328489 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.84C>T; p.D28D; 8:23368268-23368268 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1417G>A; p.A473T; 8:23319938-23319938 |
skin | malignant_melanoma | Substitution - Missense |
c.1199_1200insA; p.S401fs*149; 8:23322232-23322233 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |