Entrez Gene

Basic Information
Gene ID	3853
Name	KRT6A
Synonymous	keratin 6A, type II;KRT6A;keratin 6A, type II
Definition	KDAMP\|cytokeratin 6A\|cytokeratin 6C\|cytokeratin 6D\|kamp-keratin derived antimicrobial peptide\|keratin 6A, , type II\|keratin, epidermal type II, K6A\|keratin, type II cytoskeletal 6A\|type-II keratin Kb6
Position	12q13.13
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.757T>C; p.Y253H; 12:52491171-52491171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1124G>A; p.R375H; 12:52490022-52490022	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.738G>T; p.V246V; 12:52491539-52491539	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1263G>A; p.K421K; 12:52488489-52488489	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1046G>A; p.R349Q; 12:52490600-52490600	central_nervous_system; brain	glioma; oligodendroglioma_Grade_III	Substitution - Missense
c.1057G>A; p.E353K; 12:52490589-52490589	skin	malignant_melanoma	Substitution - Missense
c.1298C>T; p.A433V; 12:52488454-52488454	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1298C>T; p.A433V; 12:52488454-52488454	pancreas	carcinoma	Substitution - Missense
c.661C>T; p.L221F; 12:52491616-52491616	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1173G>A; p.L391L; 12:52489973-52489973	breast	carcinoma; HER-positive_carcinoma	Substitution - coding silent
c.901T>C; p.L301L; 12:52490869-52490869	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.645G>T; p.E215D; 12:52491632-52491632	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.780C>T; p.R260R; 12:52491148-52491148	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1619G>T; p.S540I; 12:52487796-52487796	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1655C>T; p.T552I; 12:52487760-52487760	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.89G>A; p.R30H; 12:52493100-52493100	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.880G>A; p.E294K; 12:52490890-52490890	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1601C>T; p.A534V; 12:52487814-52487814	skin	malignant_melanoma	Substitution - Missense
c.460C>G; p.P154A; 12:52492729-52492729	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1220C>T; p.A407V; 12:52488532-52488532	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.260C>G; p.A87G; 12:52492929-52492929	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.915G>T; p.E305D; 12:52490731-52490731	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1494C>T; p.G498G; 12:52487921-52487921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1116C>T; p.D372D; 12:52490030-52490030	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1116C>T; p.D372D; 12:52490030-52490030	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1494C>T; p.G498G; 12:52487921-52487921	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1219G>A; p.A407T; 12:52488533-52488533	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.576A>G; p.E192E; 12:52491701-52491701	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.819T>C; p.D273D; 12:52490951-52490951	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1083G>A; p.E361E; 12:52490063-52490063	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.643G>C; p.E215Q; 12:52491634-52491634	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.106G>A; p.V36I; 12:52493083-52493083	urinary_tract; bladder	carcinoma	Substitution - Missense
c.296G>A; p.G99E; 12:52492893-52492893	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1534G>A; p.G512R; 12:52487881-52487881	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.602A>T; p.Q201L; 12:52491675-52491675	urinary_tract; bladder	carcinoma	Substitution - Missense
c.602A>T; p.Q201L; 12:52491675-52491675	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1440C>T; p.G480G; 12:52488088-52488088	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440C>T; p.G480G; 12:52488088-52488088	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.912+1G>C; p.?; 12:52490857-52490857	liver	carcinoma	Unknown
c.1638T>C; p.S546S; 12:52487777-52487777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.912+1G>C; p.?; 12:52490857-52490857	liver	carcinoma	Unknown
c.524C>T; p.A175V; 12:52492665-52492665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.483T>C; p.A161A; 12:52492706-52492706	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.483T>C; p.A161A; 12:52492706-52492706	thyroid	other; neoplasm	Substitution - coding silent
c.483T>C; p.A161A; 12:52492706-52492706	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1008G>A; p.E336E; 12:52490638-52490638	skin	malignant_melanoma	Substitution - coding silent
c.1670C>T; p.S557F; 12:52487745-52487745	skin	malignant_melanoma	Substitution - Missense
c.46C>T; p.R16W; 12:52493143-52493143	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.738G>A; p.V246V; 12:52491539-52491539	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.448C>T; p.L150L; 12:52492741-52492741	skin	malignant_melanoma	Substitution - coding silent
c.1424G>T; p.R475M; 12:52488328-52488328	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.636G>A; p.P212P; 12:52491641-52491641	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.945C>G; p.D315E; 12:52490701-52490701	bone; fibula	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1417G>A; p.E473K; 12:52488335-52488335	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.1286G>T; p.G429V; 12:52488466-52488466	skin	malignant_melanoma	Substitution - Missense
c.80G>A; p.G27E; 12:52493109-52493109	skin	malignant_melanoma	Substitution - Missense
c.1550A>G; p.Y517C; 12:52487865-52487865	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.154G>A; p.G52R; 12:52493035-52493035	skin	malignant_melanoma	Substitution - Missense
c.962C>T; p.S321F; 12:52490684-52490684	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.779G>A; p.R260H; 12:52491149-52491149	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.779G>A; p.R260H; 12:52491149-52491149	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1567G>T; p.V523F; 12:52487848-52487848	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.962C>T; p.S321F; 12:52490684-52490684	urinary_tract; bladder	carcinoma	Substitution - Missense
c.493G>A; p.E165K; 12:52492696-52492696	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1610G>A; p.G537D; 12:52487805-52487805	breast	carcinoma	Substitution - Missense
c.1081G>A; p.E361K; 12:52490065-52490065	breast	carcinoma	Substitution - Missense
c.1586C>T; p.S529F; 12:52487829-52487829	skin	malignant_melanoma	Substitution - Missense
c.1499C>A; p.A500D; 12:52487916-52487916	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1428G>A; p.L476L; 12:52488100-52488100	skin	malignant_melanoma	Substitution - coding silent
c.799T>G; p.F267V; 12:52491129-52491129	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1156C>T; p.R386C; 12:52489990-52489990	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1540A>T; p.S514C; 12:52487875-52487875	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1566C>T; p.G522G; 12:52487849-52487849	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.93T>G; p.S31S; 12:52493096-52493096	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.409G>A; p.E137K; 12:52492780-52492780	skin	malignant_melanoma	Substitution - Missense
c.1206C>T; p.C402C; 12:52488546-52488546	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.93T>C; p.S31S; 12:52493096-52493096	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.200_201CC>TT; p.S67F; 12:52492988-52492989	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.687C>T; p.V229V; 12:52491590-52491590	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1206C>T; p.C402C; 12:52488546-52488546	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.93T>C; p.S31S; 12:52493096-52493096	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.93T>C; p.S31S; 12:52493096-52493096	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1682G>A; p.S561N; 12:52487733-52487733	skin	malignant_melanoma	Substitution - Missense
c.1161G>T; p.M387I; 12:52489985-52489985	skin	malignant_melanoma	Substitution - Missense
c.13T>C; p.S5P; 12:52493176-52493176	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1378G>A; p.V460M; 12:52488374-52488374	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.666G>A; p.R222R; 12:52491611-52491611	skin	malignant_melanoma	Substitution - coding silent
c.395delC; p.P132fs*14; 12:52492794-52492794	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1386C>T; p.I462I; 12:52488366-52488366	bone; femur	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.549C>T; p.F183F; 12:52491728-52491728	skin	malignant_melanoma	Substitution - coding silent
c.1413T>C; p.G471G; 12:52488339-52488339	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1660A>T; p.T554S; 12:52487755-52487755	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1158C>T; p.R386R; 12:52489988-52489988	liver	carcinoma	Substitution - coding silent
c.1158C>T; p.R386R; 12:52489988-52489988	liver	carcinoma	Substitution - coding silent
c.939C>A; p.I313I; 12:52490707-52490707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.939C>A; p.I313I; 12:52490707-52490707	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.688G>A; p.G230R; 12:52491589-52491589	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.418G>A; p.V140I; 12:52492771-52492771	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.418G>A; p.V140I; 12:52492771-52492771	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1332G>A; p.L444L; 12:52488420-52488420	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.418G>A; p.V140I; 12:52492771-52492771	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.418G>A; p.V140I; 12:52492771-52492771	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.685G>A; p.V229I; 12:52491592-52491592	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.893T>C; p.L298P; 12:52490877-52490877	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1328G>A; p.R443Q; 12:52488424-52488424	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1166A>G; p.Q389R; 12:52489980-52489980	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.534C>T; p.I178I; 12:52492655-52492655	skin	malignant_melanoma	Substitution - coding silent
c.1632C>T; p.G544G; 12:52487783-52487783	ovary	other; neoplasm	Substitution - coding silent
c.1209C>T; p.A403A; 12:52488543-52488543	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1632C>T; p.G544G; 12:52487783-52487783	ovary	other; neoplasm	Substitution - coding silent
c.584G>T; p.W195L; 12:52491693-52491693	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.374C>T; p.P125L; 12:52492815-52492815	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1479C>A; p.V493V; 12:52487936-52487936	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.432C>T; p.L144L; 12:52492757-52492757	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.479G>A; p.R160Q; 12:52492710-52492710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.440C>G; p.P147R; 12:52492749-52492749	pancreas	carcinoma	Substitution - Missense
c.1471T>C; p.S491P; 12:52487944-52487944	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.977G>T; p.R326L; 12:52490669-52490669	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.62A>G; p.N21S; 12:52493127-52493127	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.62A>G; p.N21S; 12:52493127-52493127	thyroid	other; neoplasm	Substitution - Missense
c.1620C>T; p.S540S; 12:52487795-52487795	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1003G>A; p.A335T; 12:52490643-52490643	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1003G>A; p.A335T; 12:52490643-52490643	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1545C>T; p.Y515Y; 12:52487870-52487870	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.306C>T; p.F102F; 12:52492883-52492883	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.526T>C; p.S176P; 12:52492663-52492663	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1477G>A; p.V493I; 12:52487938-52487938	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1477G>A; p.V493I; 12:52487938-52487938	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1247G>T; p.G416V; 12:52488505-52488505	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1308G>A; p.K436K; 12:52488444-52488444	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1308G>A; p.K436K; 12:52488444-52488444	skin	malignant_melanoma	Substitution - coding silent
c.857C>G; p.A286G; 12:52490913-52490913	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1320C>T; p.D440D; 12:52488432-52488432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.460C>T; p.P154S; 12:52492729-52492729	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.495A>G; p.E165E; 12:52492694-52492694	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1285G>C; p.G429R; 12:52488467-52488467	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.197_198insG; p.S67fs*96; 12:52492991-52492992	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1046G>T; p.R349L; 12:52490600-52490600	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1065G>A; p.W355*; 12:52490581-52490581	skin; nipple	malignant_melanoma	Substitution - Nonsense
c.1014G>T; p.K338N; 12:52490632-52490632	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1509C>T; p.V503V; 12:52487906-52487906	skin	malignant_melanoma	Substitution - coding silent
c.1445G>A; p.G482E; 12:52488083-52488083	liver	carcinoma	Substitution - Missense
c.1445G>A; p.G482E; 12:52488083-52488083	liver	carcinoma	Substitution - Missense
c.713A>T; p.E238V; 12:52491564-52491564	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.92C>G; p.S31C; 12:52493097-52493097	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.766G>A; p.E256K; 12:52491162-52491162	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1321C>G; p.L441V; 12:52488431-52488431	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1272G>A; p.K424K; 12:52488480-52488480	skin	malignant_melanoma	Substitution - coding silent
c.1573G>T; p.G525C; 12:52487842-52487842	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.110C>T; p.S37F; 12:52493079-52493079	skin	malignant_melanoma	Substitution - Missense
c.110C>T; p.S37F; 12:52493079-52493079	skin	malignant_melanoma	Substitution - Missense
c.1655C>G; p.T552S; 12:52487760-52487760	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1290G>T; p.L430L; 12:52488462-52488462	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.827C>T; p.A276V; 12:52490943-52490943	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1175G>A; p.R392K; 12:52489971-52489971	skin	malignant_melanoma	Substitution - Missense
c.1327C>T; p.R443W; 12:52488425-52488425	thyroid	other; neoplasm	Substitution - Missense
c.676G>A; p.D226N; 12:52491601-52491601	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699C>T; p.G233G; 12:52491578-52491578	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.879C>T; p.D293D; 12:52490891-52490891	central_nervous_system; brain	glioma	Substitution - coding silent
c.879C>T; p.D293D; 12:52490891-52490891	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.79G>T; p.G27W; 12:52493110-52493110	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.879C>T; p.D293D; 12:52490891-52490891	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.879C>T; p.D293D; 12:52490891-52490891	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.666G>C; p.R222S; 12:52491611-52491611	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.457G>A; p.D153N; 12:52492732-52492732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.642C>T; p.F214F; 12:52491635-52491635	skin	malignant_melanoma	Substitution - coding silent
c.1456A>G; p.I486V; 12:52488072-52488072	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1456A>G; p.I486V; 12:52488072-52488072	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1620C>A; p.S540R; 12:52487795-52487795	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>A; p.D244N; 12:52491547-52491547	skin	malignant_melanoma	Substitution - Missense
c.1186G>A; p.D396N; 12:52489960-52489960	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1435G>A; p.E479K; 12:52488093-52488093	pancreas	carcinoma	Substitution - Missense
c.745T>C; p.F249L; 12:52491532-52491532	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.896G>A; p.R299K; 12:52490874-52490874	skin	malignant_melanoma	Substitution - Missense
c.644A>G; p.E215G; 12:52491633-52491633	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1027G>A; p.E343K; 12:52490619-52490619	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.G17S; 12:52493140-52493140	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]