Entrez Gene

Basic Information
Gene ID	84735
Name	CNDP1
Synonymous	carnosine dipeptidase 1 (metallopeptidase M20 family);CNDP1;carnosine dipeptidase 1 (metallopeptidase M20 family)
Definition	CNDP dipeptidase 1\|beta-Ala-His dipeptidase\|carnosinase 1\|glutamate carboxypeptidase-like protein 2\|serum carnosinase
Position	18q22.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.600G>A; p.E200E; 18:74567277-74567277	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.689T>A; p.L230Q; 18:74567366-74567366	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.955G>T; p.E319*; 18:74576982-74576982	breast	carcinoma	Substitution - Nonsense
c.406C>T; p.Q136*; 18:74560958-74560958	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.332C>A; p.P111H; 18:74560884-74560884	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.590G>A; p.G197E; 18:74567267-74567267	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.596A>G; p.E199G; 18:74567273-74567273	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.582C>G; p.I194M; 18:74567259-74567259	breast	carcinoma	Substitution - Missense
c.935C>G; p.A312G; 18:74576962-74576962	ovary	other; neoplasm	Substitution - Missense
c.155C>T; p.T52M; 18:74559324-74559324	oesophagus	carcinoma	Substitution - Missense
c.473T>G; p.L158R; 18:74562053-74562053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.473T>G; p.L158R; 18:74562053-74562053	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.621G>T; p.E207D; 18:74567298-74567298	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1112G>A; p.G371E; 18:74578272-74578272	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1337_1338GG>AA; p.R446Q; 18:74583588-74583589	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.535G>A; p.A179T; 18:74562115-74562115	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.205C>T; p.R69C; 18:74559374-74559374	skin	malignant_melanoma	Substitution - Missense
c.424G>A; p.D142N; 18:74560976-74560976	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.298C>T; p.Q100*; 18:74559467-74559467	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.46_47insTGC; p.L20_E21insL; 18:74556359-74556360	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.618G>A; p.L206L; 18:74567295-74567295	pancreas	carcinoid-endocrine_tumour	Substitution - coding silent
c.455C>T; p.T152M; 18:74561007-74561007	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.455C>T; p.T152M; 18:74561007-74561007	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1392C>T; p.S464S; 18:74583643-74583643	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1392C>T; p.S464S; 18:74583643-74583643	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.556-8T>C; p.?; 18:74567225-74567225	skin	malignant_melanoma	Unknown
c.859T>C; p.S287P; 18:74576886-74576886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.60_61insCTGCTG; p.L20_E21insLL; 18:74556373-74556374	ovary	carcinoma	Insertion - In frame
c.731G>A; p.R244Q; 18:74567408-74567408	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.556-8T>C; p.?; 18:74567225-74567225	skin	malignant_melanoma	Unknown
c.1082C>T; p.T361I; 18:74578242-74578242	breast	carcinoma	Substitution - Missense
c.177C>T; p.I59I; 18:74559346-74559346	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039C>G; p.L347V; 18:74578199-74578199	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	prostate	carcinoma; adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	lung	carcinoma; adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	kidney	carcinoma; renal_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	lung	carcinoma; non_small_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	breast	carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	lung	carcinoma; non_small_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	breast	carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	skin; axilla	malignant_melanoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	lung	carcinoma; large_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	central_nervous_system; brain	glioma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	central_nervous_system; brain	glioma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	ovary	carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	kidney	carcinoma; renal_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	ovary	carcinoma; adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	lung	carcinoma; large_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	lung	carcinoma; bronchioloalveolar_adenocarcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	large_intestine; colon	carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	skin; upper_leg	malignant_melanoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	central_nervous_system; brain	glioma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	central_nervous_system; brain	glioma	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - In frame
c.60_61insCTG; p.L20_E21insL; 18:74556373-74556374	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - In frame
c.457G>A; p.E153K; 18:74561009-74561009	skin	malignant_melanoma	Substitution - Missense
c.943C>A; p.L315I; 18:74576970-74576970	pancreas	carcinoma	Substitution - Missense
c.51_52insACT; p.L17_L18insT; 18:74556364-74556365	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Insertion - In frame
c.968G>T; p.S323I; 18:74576995-74576995	breast	carcinoma	Substitution - Missense
c.534C>A; p.S178R; 18:74562114-74562114	skin; sole	malignant_melanoma; acral_lentiginous	Substitution - Missense
c.293G>A; p.G98D; 18:74559462-74559462	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.47_48insTCT; p.L20_E21insL; 18:74556360-74556361	breast	carcinoma; ductal_carcinoma	Insertion - In frame
c.731G>C; p.R244P; 18:74567408-74567408	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.808C>A; p.H270N; 18:74571237-74571237	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.808C>A; p.H270N; 18:74571237-74571237	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.808C>A; p.H270N; 18:74571237-74571237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.493G>A; p.D165N; 18:74562073-74562073	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1407G>T; p.P469P; 18:74583658-74583658	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1407G>T; p.P469P; 18:74583658-74583658	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.974G>A; p.R325Q; 18:74577001-74577001	thyroid	other; neoplasm	Substitution - Missense
c.517T>C; p.W173R; 18:74562097-74562097	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.156G>A; p.T52T; 18:74559325-74559325	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.179A>C; p.E60A; 18:74559348-74559348	breast	carcinoma	Substitution - Missense
c.264delG; p.A90fs*62; 18:74559433-74559433	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1202G>T; p.R401I; 18:74580164-74580164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1202G>T; p.R401I; 18:74580164-74580164	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.99G>A; p.A33A; 18:74556412-74556412	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.355G>T; p.G119W; 18:74560907-74560907	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.368C>T; p.T123M; 18:74560920-74560920	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.180G>T; p.E60D; 18:74559349-74559349	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.183C>A; p.S61R; 18:74559352-74559352	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.260G>A; p.R87H; 18:74559429-74559429	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1057G>T; p.E353*; 18:74578217-74578217	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.933A>G; p.K311K; 18:74576960-74576960	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.576A>T; p.K192N; 18:74567253-74567253	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.153G>T; p.Q51H; 18:74556466-74556466	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1380C>T; p.I460I; 18:74583631-74583631	skin	malignant_melanoma	Substitution - coding silent
c.1193T>C; p.F398S; 18:74580155-74580155	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1380C>T; p.I460I; 18:74583631-74583631	skin	malignant_melanoma	Substitution - coding silent
c.1176A>G; p.R392R; 18:74580138-74580138	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.923A>T; p.N308I; 18:74576950-74576950	skin	malignant_melanoma	Substitution - Missense
c.844A>T; p.S282C; 18:74576871-74576871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>T; p.C255F; 18:74571193-74571193	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.66C>T; p.R22R; 18:74556379-74556379	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.369G>A; p.T123T; 18:74560921-74560921	skin	malignant_melanoma	Substitution - coding silent
c.767G>A; p.R256K; 18:74571196-74571196	skin	malignant_melanoma	Substitution - Missense
c.3G>A; p.M1I; 18:74534670-74534670	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1522T>C; p.*508Q; 18:74584560-74584560	endometrium	carcinoma; endometrioid_carcinoma	Nonstop extension
c.719C>A; p.T240N; 18:74567396-74567396	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.994G>A; p.D332N; 18:74577021-74577021	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.719C>A; p.T240N; 18:74567396-74567396	large_intestine; colon	carcinoma	Substitution - Missense
c.719C>A; p.T240N; 18:74567396-74567396	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1188T>G; p.D396E; 18:74580150-74580150	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.361G>A; p.D121N; 18:74560913-74560913	skin	malignant_melanoma	Substitution - Missense
c.421G>A; p.G141S; 18:74560973-74560973	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1102C>A; p.R368R; 18:74578262-74578262	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.33C>A; p.S11S; 18:74556346-74556346	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1154C>T; p.A385V; 18:74578314-74578314	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.423C>T; p.G141G; 18:74560975-74560975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1298C>T; p.A433V; 18:74580260-74580260	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.759G>C; p.V253V; 18:74571188-74571188	skin	malignant_melanoma	Substitution - coding silent
c.58_60delCTG; p.L20delL; 18:74556371-74556373	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Deletion - In frame
c.1114A>C; p.K372Q; 18:74578274-74578274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1520A>G; p.H507R; 18:74584558-74584558	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1503A>T; p.L501F; 18:74584541-74584541	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.418C>T; p.R140W; 18:74560970-74560970	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.418C>T; p.R140W; 18:74560970-74560970	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.993C>T; p.F331F; 18:74577020-74577020	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.993C>T; p.F331F; 18:74577020-74577020	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.60_61insATG; p.L20_E21insM; 18:74556373-74556374	breast	carcinoma	Insertion - In frame
c.1250C>G; p.P417R; 18:74580212-74580212	skin	malignant_melanoma	Substitution - Missense
c.881G>A; p.G294E; 18:74576908-74576908	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.62A>T; p.E21V; 18:74556375-74556375	liver	carcinoma	Substitution - Missense
c.943C>G; p.L315V; 18:74576970-74576970	breast	carcinoma	Substitution - Missense
c.1127G>A; p.R376H; 18:74578287-74578287	breast	carcinoma	Substitution - Missense
c.912A>C; p.E304D; 18:74576939-74576939	breast	carcinoma	Substitution - Missense
c.1168-2A>G; p.?; 18:74580128-74580128	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1405C>T; p.P469S; 18:74583656-74583656	skin	malignant_melanoma	Substitution - Missense
c.1405C>T; p.P469S; 18:74583656-74583656	skin	malignant_melanoma	Substitution - Missense
c.613G>A; p.A205T; 18:74567290-74567290	urinary_tract; bladder	carcinoma	Substitution - Missense
c.12A>T; p.K4N; 18:74534679-74534679	central_nervous_system; brain	glioma	Substitution - Missense
c.1405C>T; p.P469S; 18:74583656-74583656	skin	malignant_melanoma	Substitution - Missense
c.86C>T; p.S29F; 18:74556399-74556399	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.934G>A; p.A312T; 18:74576961-74576961	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.756+1G>T; p.?; 18:74567434-74567434	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.48_49insTGCTG; p.L17fs*21; 18:74556361-74556362	NS	malignant_melanoma	Insertion - Frameshift
c.48_49insTGCTG; p.L17fs*21; 18:74556361-74556362	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Insertion - Frameshift
c.710C>G; p.P237R; 18:74567387-74567387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.272G>A; p.R91H; 18:74559441-74559441	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.89C>T; p.P30L; 18:74556402-74556402	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.946G>A; p.D316N; 18:74576973-74576973	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.89C>T; p.P30L; 18:74556402-74556402	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.946G>A; p.D316N; 18:74576973-74576973	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.201G>A; p.V67V; 18:74559370-74559370	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1437G>A; p.S479S; 18:74583688-74583688	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.647G>A; p.R216Q; 18:74567324-74567324	pancreas	carcinoma	Substitution - Missense
c.647G>A; p.R216Q; 18:74567324-74567324	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.840C>T; p.L280L; 18:74571269-74571269	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.647G>A; p.R216Q; 18:74567324-74567324	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.43_44insTGC; p.L20_E21insL; 18:74556356-74556357	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - In frame
c.1174C>T; p.R392*; 18:74580136-74580136	pancreas	carcinoma	Substitution - Nonsense
c.747C>T; p.F249F; 18:74567424-74567424	skin	malignant_melanoma	Substitution - coding silent
c.747C>T; p.F249F; 18:74567424-74567424	skin	malignant_melanoma	Substitution - coding silent
c.43_44insTGC; p.L20_E21insL; 18:74556356-74556357	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Insertion - In frame
c.747C>T; p.F249F; 18:74567424-74567424	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.43_44insTGC; p.L20_E21insL; 18:74556356-74556357	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.259C>T; p.R87C; 18:74559428-74559428	liver	carcinoma	Substitution - Missense
c.244G>T; p.A82S; 18:74559413-74559413	urinary_tract; bladder	carcinoma	Substitution - Missense
c.259C>T; p.R87C; 18:74559428-74559428	liver	carcinoma	Substitution - Missense
c.1248C>A; p.H416Q; 18:74580210-74580210	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1052G>A; p.G351E; 18:74578212-74578212	skin	malignant_melanoma	Substitution - Missense
c.41C>T; p.A14V; 18:74556354-74556354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.556G>A; p.D186N; 18:74567233-74567233	skin	malignant_melanoma	Substitution - Missense
c.1110A>G; p.I370M; 18:74578270-74578270	skin	malignant_melanoma	Substitution - Missense
c.556G>A; p.D186N; 18:74567233-74567233	skin	malignant_melanoma	Substitution - Missense
c.845G>A; p.S282N; 18:74576872-74576872	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1207A>G; p.S403G; 18:74580169-74580169	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.G119G; 18:74560909-74560909	skin	malignant_melanoma	Substitution - coding silent

COSMIC somatic mutation [Top]