| Gene ID | 55107 |
| Symbol | ANO1 |
| Synonymous | DOG1|ORAOV2|TAOS2|TMEM16A |
| Full name | anoctamin 1, calcium activated chloride channel |
| Gene description | Ca2+-activated Cl- channel|anoctamin-1|discovered on gastrointestinal stromal tumors protein 1|oral cancer overexpressed 2|transmembrane protein 16A (eight membrane-spanning domains)|tumor-amplified and overexpressed sequence 2 |
| Cytoband | 11q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:610108; HGNC:HGNC:21625; Ensembl:ENSG00000131620; HPRD:18202; Vega:OTTHUMG00000167204 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.832G>C; p.A278P; 11:70111739-70111739 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1007G>T; p.G336V; 11:70126105-70126105 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1823T>C; p.F608S; 11:70161664-70161664 |
thyroid | other; neoplasm | Substitution - Missense |
c.2877G>A; p.P959P; 11:70187920-70187920 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - coding silent |
c.704C>G; p.S235C; 11:70105745-70105745 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.108+5G>A; p.?; 11:70078719-70078719 |
liver | carcinoma | Unknown |
c.1793C>T; p.T598M; 11:70161634-70161634 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408T>C; p.F803S; 11:70182506-70182506 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1879T>C; p.F627L; 11:70161720-70161720 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2839A>G; p.T947A; 11:70187882-70187882 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.144G>T; p.E48D; 11:70087787-70087787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1297C>T; p.R433*; 11:70149748-70149748 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Nonsense |
c.2318G>A; p.R773Q; 11:70171007-70171007 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1863C>T; p.P621P; 11:70161704-70161704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1839G>A; p.L613L; 11:70161680-70161680 |
thyroid | carcinoma | Substitution - coding silent |
c.497G>A; p.C166Y; 11:70103121-70103121 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.497G>A; p.C166Y; 11:70103121-70103121 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1940G>A; p.R647Q; 11:70163330-70163330 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.405C>T; p.L135L; 11:70088048-70088048 |
skin | malignant_melanoma | Substitution - coding silent |
c.1940G>A; p.R647Q; 11:70163330-70163330 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1848G>A; p.V616V; 11:70161689-70161689 |
skin | malignant_melanoma | Substitution - coding silent |
c.2479A>G; p.M827V; 11:70182577-70182577 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.711G>A; p.K237K; 11:70105752-70105752 |
skin | malignant_melanoma | Substitution - coding silent |
c.1357C>A; p.H453N; 11:70153060-70153060 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.155G>A; p.G52D; 11:70087798-70087798 |
skin | malignant_melanoma | Substitution - Missense |
c.824G>C; p.G275A; 11:70111731-70111731 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.746T>A; p.I249N; 11:70105787-70105787 |
liver | carcinoma | Substitution - Missense |
c.295C>T; p.H99Y; 11:70087938-70087938 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1521G>A; p.L507L; 11:70156964-70156964 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.770C>T; p.T257M; 11:70108375-70108375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1157G>A; p.C386Y; 11:70131978-70131978 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2238C>T; p.F746F; 11:70170927-70170927 |
skin | malignant_melanoma | Substitution - coding silent |
c.939G>C; p.K313N; 11:70124391-70124391 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1763G>A; p.R588Q; 11:70161345-70161345 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.981G>A; p.K327K; 11:70126079-70126079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.741C>A; p.S247R; 11:70105782-70105782 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2806C>T; p.R936W; 11:70187849-70187849 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.879C>T; p.V293V; 11:70116481-70116481 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2251C>A; p.L751M; 11:70170940-70170940 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1833C>T; p.F611F; 11:70161674-70161674 |
skin | malignant_melanoma | Substitution - coding silent |
c.986G>A; p.G329D; 11:70126084-70126084 |
skin | malignant_melanoma | Substitution - Missense |
c.2631C>T; p.Y877Y; 11:70185632-70185632 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1841A>G; p.K614R; 11:70161682-70161682 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.368A>G; p.D123G; 11:70088011-70088011 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1139C>T; p.P380L; 11:70131960-70131960 |
skin | malignant_melanoma | Substitution - Missense |
c.1068A>T; p.G356G; 11:70126166-70126166 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1665C>T; p.S555S; 11:70161247-70161247 |
skin | malignant_melanoma | Substitution - coding silent |
c.1661C>T; p.P554L; 11:70161243-70161243 |
skin | malignant_melanoma | Substitution - Missense |
c.2397C>A; p.I799I; 11:70180050-70180050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1930C>T; p.R644C; 11:70163320-70163320 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2324C>T; p.P775L; 11:70171013-70171013 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918G>A; p.V640M; 11:70163308-70163308 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2749A>G; p.K917E; 11:70187792-70187792 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.736C>T; p.R246W; 11:70105777-70105777 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.736C>T; p.R246W; 11:70105777-70105777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2029A>G; p.N677D; 11:70165548-70165548 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.846A>G; p.P282P; 11:70111753-70111753 |
breast | carcinoma | Substitution - coding silent |
c.2535C>T; p.N845N; 11:70182633-70182633 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1741G>A; p.E581K; 11:70161323-70161323 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1258+2T>C; p.?; 11:70132081-70132081 |
stomach | carcinoma; intestinal_adenocarcinoma | Unknown |
c.2051C>T; p.P684L; 11:70165570-70165570 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.690T>A; p.H230Q; 11:70104148-70104148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807G>C; p.E603Q; 11:70161648-70161648 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1254C>T; p.L418L; 11:70132075-70132075 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2640C>T; p.S880S; 11:70185641-70185641 |
skin | malignant_melanoma | Substitution - coding silent |
c.2449T>C; p.Y817H; 11:70182547-70182547 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2785C>A; p.L929I; 11:70187828-70187828 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.718T>C; p.F240L; 11:70105759-70105759 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.693-1G>T; p.?; 11:70105733-70105733 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1797G>A; p.E599E; 11:70161638-70161638 |
skin | malignant_melanoma | Substitution - coding silent |
c.869G>T; p.G290V; 11:70116471-70116471 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094C>T; p.P365L; 11:70126192-70126192 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2953G>A; p.V985I; 11:70187996-70187996 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681C>T; p.R561W; 11:70161263-70161263 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1681C>T; p.R561W; 11:70161263-70161263 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1681C>T; p.R561W; 11:70161263-70161263 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.510G>A; p.E170E; 11:70103134-70103134 |
liver | carcinoma | Substitution - coding silent |
c.510G>A; p.E170E; 11:70103134-70103134 |
liver | carcinoma | Substitution - coding silent |
c.1994G>T; p.S665I; 11:70165513-70165513 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.643C>G; p.Q215E; 11:70104101-70104101 |
breast | carcinoma | Substitution - Missense |
c.1903C>T; p.R635C; 11:70163293-70163293 |
pancreas | carcinoma | Substitution - Missense |
c.2273T>G; p.I758S; 11:70170962-70170962 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1008C>T; p.G336G; 11:70126106-70126106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.596A>T; p.Q199L; 11:70104054-70104054 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.221C>T; p.S74L; 11:70087864-70087864 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1081G>A; p.D361N; 11:70126179-70126179 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1140G>A; p.P380P; 11:70131961-70131961 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.832G>A; p.A278T; 11:70111739-70111739 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351G>A; p.M117I; 11:70087994-70087994 |
skin | malignant_melanoma | Substitution - Missense |
c.1939C>T; p.R647*; 11:70163329-70163329 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.292G>T; p.D98Y; 11:70087935-70087935 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2685C>T; p.I895I; 11:70185686-70185686 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.218C>T; p.P73L; 11:70087861-70087861 |
skin | malignant_melanoma | Substitution - Missense |
c.2706G>A; p.M902I; 11:70187749-70187749 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1908G>A; p.P636P; 11:70163298-70163298 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2686G>A; p.V896I; 11:70185687-70185687 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2609C>T; p.P870L; 11:70185610-70185610 |
liver | carcinoma | Substitution - Missense |
c.2609C>T; p.P870L; 11:70185610-70185610 |
liver | carcinoma | Substitution - Missense |
c.1209C>G; p.L403L; 11:70132030-70132030 |
breast | carcinoma | Substitution - coding silent |
c.1233C>T; p.F411F; 11:70132054-70132054 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1599C>T; p.I533I; 11:70161181-70161181 |
skin | malignant_melanoma | Substitution - coding silent |
c.1579-1G>T; p.?; 11:70161160-70161160 |
breast | carcinoma | Unknown |
c.522G>T; p.L174L; 11:70103146-70103146 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2432T>C; p.F811S; 11:70182530-70182530 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.43C>T; p.R15C; 11:70078649-70078649 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.348G>A; p.P116P; 11:70087991-70087991 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2868C>T; p.D956D; 11:70187911-70187911 |
breast | carcinoma | Substitution - coding silent |
c.2265G>A; p.L755L; 11:70170954-70170954 |
skin | malignant_melanoma | Substitution - coding silent |
c.1015A>C; p.T339P; 11:70126113-70126113 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.1015A>C; p.T339P; 11:70126113-70126113 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2540C>T; p.T847M; 11:70182638-70182638 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.574delA; p.I194fs*24; 11:70104032-70104032 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1666G>A; p.V556M; 11:70161248-70161248 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1092C>T; p.I364I; 11:70126190-70126190 |
skin | malignant_melanoma | Substitution - coding silent |
c.2882_2883insC; p.H962fs*>26; 11:70187925-70187926 |
prostate | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1812G>C; p.E604D; 11:70161653-70161653 |
breast | carcinoma | Substitution - Missense |
c.2659C>A; p.L887M; 11:70185660-70185660 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2439G>A; p.P813P; 11:70182537-70182537 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2439G>A; p.P813P; 11:70182537-70182537 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.960C>G; p.V320V; 11:70124412-70124412 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.926G>A; p.G309E; 11:70124378-70124378 |
skin | malignant_melanoma | Substitution - Missense |
c.1151A>T; p.K384M; 11:70131972-70131972 |
skin | malignant_melanoma | Substitution - Missense |
c.2419T>C; p.F807L; 11:70182517-70182517 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.798G>A; p.M266I; 11:70108403-70108403 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2433C>T; p.F811F; 11:70182531-70182531 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1683G>A; p.R561R; 11:70161265-70161265 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1623A>G; p.R541R; 11:70161205-70161205 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1623A>G; p.R541R; 11:70161205-70161205 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1188C>T; p.A396A; 11:70132009-70132009 |
skin | malignant_melanoma | Substitution - coding silent |
c.1134G>A; p.M378I; 11:70131955-70131955 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1227G>A; p.T409T; 11:70132048-70132048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2613G>A; p.P871P; 11:70185614-70185614 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1628C>G; p.S543C; 11:70161210-70161210 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1794G>A; p.T598T; 11:70161635-70161635 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2656G>A; p.V886I; 11:70185657-70185657 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1369G>C; p.E457Q; 11:70153072-70153072 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1041C>T; p.I347I; 11:70126139-70126139 |
skin | malignant_melanoma | Substitution - coding silent |
c.379C>T; p.R127C; 11:70088022-70088022 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.671T>A; p.F224Y; 11:70104129-70104129 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1872C>T; p.Y624Y; 11:70161713-70161713 |
breast | carcinoma | Substitution - coding silent |
c.818C>T; p.A273V; 11:70111725-70111725 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.920G>A; p.R307H; 11:70124372-70124372 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2637C>A; p.I879I; 11:70185638-70185638 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1105A>C; p.M369L; 11:70131926-70131926 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1931G>A; p.R644H; 11:70163321-70163321 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2424G>A; p.T808T; 11:70182522-70182522 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.997G>C; p.A333P; 11:70126095-70126095 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1077_1078CA>TG; p.T359>?; 11:70126175-70126176 |
large_intestine; rectum | carcinoma; adenocarcinoma | Complex |
c.1873G>A; p.V625M; 11:70161714-70161714 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1526G>T; p.W509L; 11:70156969-70156969 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2355C>T; p.I785I; 11:70180008-70180008 |
skin | malignant_melanoma | Substitution - coding silent |
c.1808A>G; p.E603G; 11:70161649-70161649 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1950+7G>A; p.?; 11:70163347-70163347 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.842A>G; p.Y281C; 11:70111749-70111749 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2119G>T; p.V707L; 11:70167309-70167309 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1374C>T; p.Y458Y; 11:70153077-70153077 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2344G>T; p.D782Y; 11:70171033-70171033 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1071C>T; p.C357C; 11:70126169-70126169 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1740C>T; p.D580D; 11:70161322-70161322 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2952C>T; p.G984G; 11:70187995-70187995 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2790G>A; p.M930I; 11:70187833-70187833 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2415C>A; p.I805I; 11:70182513-70182513 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1704A>G; p.A568A; 11:70161286-70161286 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2858G>T; p.R953L; 11:70187901-70187901 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1882T>C; p.F628L; 11:70161723-70161723 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2745C>T; p.I915I; 11:70187788-70187788 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2051+1G>T; p.?; 11:70165571-70165571 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2076C>A; p.Y692*; 11:70167266-70167266 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2230G>A; p.A744T; 11:70170919-70170919 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1682G>A; p.R561Q; 11:70161264-70161264 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.674C>A; p.S225Y; 11:70104132-70104132 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2291A>C; p.D764A; 11:70170980-70170980 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.531G>A; p.P177P; 11:70103155-70103155 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.662C>T; p.S221F; 11:70104120-70104120 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2760C>G; p.S920R; 11:70187803-70187803 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2637C>T; p.I879I; 11:70185638-70185638 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2637C>T; p.I879I; 11:70185638-70185638 |
skin | malignant_melanoma | Substitution - coding silent |
c.317C>T; p.A106V; 11:70087960-70087960 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1298G>A; p.R433Q; 11:70149749-70149749 |
skin | malignant_melanoma | Substitution - Missense |
c.1669C>T; p.R557W; 11:70161251-70161251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.736C>A; p.R246R; 11:70105777-70105777 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.84C>T; p.I28I; 11:70078690-70078690 |
liver | carcinoma | Substitution - coding silent |
c.645G>A; p.Q215Q; 11:70104103-70104103 |
oesophagus | carcinoma | Substitution - coding silent |
c.84C>T; p.I28I; 11:70078690-70078690 |
liver | carcinoma | Substitution - coding silent |