Entrez Gene

Basic Information
Gene ID	768
Name	CA9

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.504C>T; p.P168P; 9:35675831-35675831	skin	malignant_melanoma	Substitution - coding silent
c.465C>T; p.A155A; 9:35675792-35675792	skin	malignant_melanoma	Substitution - coding silent
c.1286T>C; p.V429A; 9:35680801-35680801	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1091G>T; p.W364L; 9:35679879-35679879	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.230C>A; p.P77Q; 9:35674189-35674189	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.234_251del18; p.G91_P96delGEEDLP; 9:35674193-35674210	eye; uveal_tract	malignant_melanoma; spindle	Deletion - In frame
c.1127G>A; p.R376Q; 9:35679915-35679915	breast	carcinoma	Substitution - Missense
c.615C>A; p.T205T; 9:35676074-35676074	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.194T>A; p.L65Q; 9:35674153-35674153	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.701G>A; p.R234H; 9:35676160-35676160	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>T; p.D112Y; 9:35674293-35674293	breast	carcinoma	Substitution - Missense
c.828C>A; p.A276A; 9:35676377-35676377	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.196C>T; p.P66S; 9:35674155-35674155	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.622C>G; p.P208A; 9:35676081-35676081	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.277G>A; p.E93K; 9:35674236-35674236	skin	malignant_melanoma	Substitution - Missense
c.416G>A; p.S139N; 9:35675550-35675550	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.20G>A; p.S7N; 9:35673979-35673979	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1131G>A; p.A377A; 9:35679919-35679919	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1134G>A; p.T378T; 9:35679922-35679922	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.391A>T; p.R131W; 9:35674350-35674350	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.853G>C; p.E285Q; 9:35677802-35677802	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.252T>C; p.P84P; 9:35674211-35674211	thyroid	other; neoplasm	Substitution - coding silent
c.252T>C; p.P84P; 9:35674211-35674211	ovary	other; neoplasm	Substitution - coding silent
c.252T>C; p.P84P; 9:35674211-35674211	skin; upper_leg	malignant_melanoma	Substitution - coding silent
c.252T>C; p.P84P; 9:35674211-35674211	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.252T>C; p.P84P; 9:35674211-35674211	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.252T>C; p.P84P; 9:35674211-35674211	thyroid	other; neoplasm	Substitution - coding silent
c.485C>T; p.S162F; 9:35675812-35675812	skin	malignant_melanoma	Substitution - Missense
c.925C>T; p.P309S; 9:35679202-35679202	skin	malignant_melanoma	Substitution - Missense
c.306_308delAGA; p.E105delE; 9:35674265-35674267	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.469G>A; p.A157T; 9:35675796-35675796	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1055G>T; p.S352I; 9:35679332-35679332	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1093G>A; p.G365R; 9:35679881-35679881	skin; extremity	malignant_melanoma	Substitution - Missense
c.195G>A; p.L65L; 9:35674154-35674154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.195G>A; p.L65L; 9:35674154-35674154	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1174G>A; p.A392T; 9:35679962-35679962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.820G>A; p.V274M; 9:35676369-35676369	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.248T>C; p.L83P; 9:35674207-35674207	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.248T>C; p.L83P; 9:35674207-35674207	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.248T>C; p.L83P; 9:35674207-35674207	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.248T>C; p.L83P; 9:35674207-35674207	thyroid	other; neoplasm	Substitution - Missense
c.261G>T; p.E87D; 9:35674220-35674220	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>A; p.E249K; 9:35676204-35676204	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.881C>G; p.S294C; 9:35677830-35677830	pancreas	carcinoma	Substitution - Missense
c.508C>T; p.L170F; 9:35675835-35675835	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.584T>G; p.L195R; 9:35675911-35675911	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1290G>A; p.A430A; 9:35680805-35680805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.665C>A; p.A222D; 9:35676124-35676124	thyroid	other; neoplasm	Substitution - Missense
c.437A>T; p.D146V; 9:35675764-35675764	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1029T>C; p.T343T; 9:35679306-35679306	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.928G>T; p.G310*; 9:35679205-35679205	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.418C>A; p.H140N; 9:35675552-35675552	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1089G>A; p.L363L; 9:35679877-35679877	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1250C>T; p.A417V; 9:35680765-35680765	skin	malignant_melanoma	Substitution - Missense
c.829G>T; p.A277S; 9:35676378-35676378	breast	carcinoma	Substitution - Missense
c.840G>A; p.E280E; 9:35676389-35676389	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.439C>A; p.P147T; 9:35675766-35675766	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1010C>T; p.A337V; 9:35679287-35679287	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.916A>G; p.T306A; 9:35679193-35679193	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.304T>G; p.S102A; 9:35674263-35674263	urinary_tract; bladder	carcinoma	Substitution - Missense
c.142C>T; p.P48S; 9:35674101-35674101	skin	malignant_melanoma	Substitution - Missense
c.853G>A; p.E285K; 9:35677802-35677802	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.173A>G; p.D58G; 9:35674132-35674132	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.762C>T; p.H254H; 9:35676311-35676311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1056T>C; p.S352S; 9:35679333-35679333	breast	carcinoma	Substitution - coding silent
c.125G>A; p.R42Q; 9:35674084-35674084	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1210G>A; p.V404I; 9:35679998-35679998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1287C>T; p.V429V; 9:35680802-35680802	skin	malignant_melanoma	Substitution - coding silent
c.885C>T; p.R295R; 9:35677834-35677834	pancreas	carcinoma	Substitution - coding silent
c.1204G>A; p.E402K; 9:35679992-35679992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>A; p.G91R; 9:35674230-35674230	skin	malignant_melanoma	Substitution - Missense
c.388C>A; p.H130N; 9:35674347-35674347	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1298T>C; p.V433A; 9:35680813-35680813	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1157T>A; p.I386N; 9:35679945-35679945	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.729C>T; p.G243G; 9:35676188-35676188	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.956C>T; p.S319F; 9:35679233-35679233	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>T; p.Q169*; 9:35675832-35675832	skin	malignant_melanoma	Substitution - Nonsense
c.977A>G; p.Q326R; 9:35679254-35679254	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.778G>A; p.A260T; 9:35676327-35676327	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.275A>T; p.E92V; 9:35674234-35674234	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.653G>T; p.R218L; 9:35676112-35676112	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.145T>C; p.L49L; 9:35674104-35674104	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.826G>A; p.A276T; 9:35676375-35676375	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.406G>A; p.D136N; 9:35675540-35675540	skin	malignant_melanoma	Substitution - Missense
c.1016G>T; p.G339V; 9:35679293-35679293	liver	carcinoma	Substitution - Missense
c.42C>A; p.I14I; 9:35674001-35674001	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1109G>A; p.R370Q; 9:35679897-35679897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1054A>G; p.S352G; 9:35679331-35679331	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.647C>G; p.P216R; 9:35676106-35676106	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.643G>A; p.G215S; 9:35676102-35676102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.849G>A; p.P283P; 9:35677798-35677798	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.412C>G; p.Q138E; 9:35675546-35675546	breast	carcinoma	Substitution - Missense
c.97G>A; p.V33M; 9:35674056-35674056	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.235_252del18; p.G79_P84delGEEDLP; 9:35674194-35674211	urinary_tract; bladder	carcinoma	Deletion - In frame
c.235_252del18; p.G79_P84delGEEDLP; 9:35674194-35674211	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Deletion - In frame
c.235_252del18; p.G79_P84delGEEDLP; 9:35674194-35674211	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.687G>A; p.W229*; 9:35676146-35676146	skin	malignant_melanoma	Substitution - Nonsense
c.235_252del18; p.G79_P84delGEEDLP; 9:35674194-35674211	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.235_252del18; p.G79_P84delGEEDLP; 9:35674194-35674211	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.272G>A; p.G91E; 9:35674231-35674231	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.G91E; 9:35674231-35674231	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.G91E; 9:35674231-35674231	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>T; p.E81*; 9:35674200-35674200	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.877C>G; p.L293V; 9:35677826-35677826	pancreas	carcinoma	Substitution - Missense

The somatic mutations from COSMIC database