Entrez Gene

Basic Information
Gene ID	207
Name	AKT1
Synonymous	v-akt murine thymoma viral oncogene homolog 1;AKT1;v-akt murine thymoma viral oncogene homolog 1
Definition	AKT1m\|PKB alpha\|RAC-PK-alpha\|RAC-alpha serine/threonine-protein kinase\|protein kinase B alpha\|proto-oncogene c-Akt\|rac protein kinase alpha
Position	14q32.32
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC confirmed somatic mutation [Top]

c.49G>A; p.E17K; 14:104780214-104780214	bone; phalanx	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; femur	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; patella	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; tibia	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; patella	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; phalanx	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; tibia	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; phalanx	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	bone; phalanx	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.10G>C; p.V4L; 14:104792634-104792634	breast	carcinoma	Substitution - Missense
c.155T>G; p.L52R; 14:104780108-104780108	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.155T>G; p.L52R; 14:104780108-104780108	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma_in_situ; ductal_carcinoma_in_situ	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ER-PR-positive_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma; lobular_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	breast	carcinoma	Substitution - Missense
c.1248G>T; p.V416V; 14:104772377-104772377	breast	carcinoma	Substitution - coding silent
c.47-1G>T; p.?; 14:104780217-104780217	breast	carcinoma; ductal_carcinoma	Unknown
c.235C>A; p.Q79K; 14:104776711-104776711	breast	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.632C>T; p.T211I; 14:104774939-104774939	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.661G>A; p.D221N; 14:104773953-104773953	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.340G>C; p.E114Q; 14:104775747-104775747	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; clear_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1329G>A; p.T443T; 14:104770779-104770779	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.852G>A; p.K284K; 14:104773356-104773356	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.75C>T; p.R25R; 14:104780188-104780188	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.238T>C; p.W80R; 14:104776708-104776708	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.130G>A; p.D44N; 14:104780133-104780133	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.235C>A; p.Q79K; 14:104776711-104776711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1113G>A; p.T371T; 14:104772937-104772937	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1099C>T; p.R367C; 14:104772951-104772951	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Missense
c.917T>C; p.M306T; 14:104773291-104773291	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.155T>G; p.L52R; 14:104780108-104780108	kidney	other; neoplasm	Substitution - Missense
c.155T>G; p.L52R; 14:104780108-104780108	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.118G>A; p.E40K; 14:104780145-104780145	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1014C>A; p.V338V; 14:104773036-104773036	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.693C>T; p.N231N; 14:104773921-104773921	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1009G>A; p.V337M; 14:104773041-104773041	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.432C>T; p.R144R; 14:104775655-104775655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.879C>T; p.F293F; 14:104773329-104773329	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>C; p.L153P; 14:104775185-104775185	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; caecum	adenoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.104T>C; p.F35S; 14:104780159-104780159	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.165C>A; p.F55L; 14:104780098-104780098	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.954C>T; p.P318P; 14:104773254-104773254	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1108C>T; p.R370C; 14:104772942-104772942	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.143G>A; p.R48H; 14:104780120-104780120	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>T; p.R96W; 14:104776660-104776660	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.131A>G; p.D44G; 14:104780132-104780132	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.238T>C; p.W80R; 14:104776708-104776708	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.194C>T; p.T65M; 14:104776752-104776752	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.815A>G; p.Y272C; 14:104773468-104773468	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.554T>C; p.V185A; 14:104775089-104775089	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.235C>A; p.Q79K; 14:104776711-104776711	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.361C>T; p.R121W; 14:104775726-104775726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.666C>T; p.R222R; 14:104773948-104773948	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.726G>A; p.E242E; 14:104773557-104773557	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.103T>C; p.F35L; 14:104780160-104780160	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1393C>T; p.R465C; 14:104770391-104770391	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.967G>T; p.D323Y; 14:104773083-104773083	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.916A>T; p.M306L; 14:104773292-104773292	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; meningothelial	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; meningothelial	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; meningothelial	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; anaplastic	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; meningothelial	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; meningothelial	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; transitional	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma; transitional	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	meninges	meningioma	Substitution - Missense
c.155T>G; p.L52R; 14:104780108-104780108	NS	NS	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	NS	NS	Substitution - Missense
c.366G>A; p.S122S; 14:104775721-104775721	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1112C>T; p.T371M; 14:104772938-104772938	ovary	other; neoplasm	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	ovary	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	ovary	carcinoma	Substitution - Missense
c.870C>G; p.I290M; 14:104773338-104773338	ovary	other; neoplasm	Substitution - Missense
c.870C>G; p.I290M; 14:104773338-104773338	ovary	other; neoplasm	Substitution - Missense
c.361C>T; p.R121W; 14:104775726-104775726	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.745C>T; p.R249W; 14:104773538-104773538	ovary	other; neoplasm	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	pancreas	carcinoma	Substitution - Missense
c.1120C>A; p.P374T; 14:104772930-104772930	pancreas	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	prostate	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	prostate	carcinoma	Substitution - Missense
c.630C>T; p.L210L; 14:104774941-104774941	skin	malignant_melanoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; upper_leg	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; ear	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; sole	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin	malignant_melanoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin	malignant_melanoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin	malignant_melanoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; hand	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; sole	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; groin	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; chest	epidermal_nevus	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; hand	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; axilla	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; axilla	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; upper_leg	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; chest	epidermal_nevus; linear_verrucous	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; hand	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; hand	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; sole	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; abdomen	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin	adnexal_tumour; malignant_adnexal_tumour	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; neck	epidermal_nevus; linear_verrucous	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; face	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; neck	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; face	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; face	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; lip	other; hyperplasia	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; axilla	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; face	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; knee	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; hand	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; shoulder	epidermal_nevus; linear_verrucous	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; knee	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	skin; foot	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.150T>A; p.A50A; 14:104780113-104780113	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.543C>T; p.L181L; 14:104775100-104775100	skin	malignant_melanoma	Substitution - coding silent
c.543C>T; p.L181L; 14:104775100-104775100	skin	malignant_melanoma	Substitution - coding silent
c.982C>T; p.R328C; 14:104773068-104773068	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.139C>T; p.Q47*; 14:104780124-104780124	skin	malignant_melanoma	Substitution - Nonsense
c.531C>T; p.A177A; 14:104775112-104775112	skin	malignant_melanoma	Substitution - coding silent
c.798G>A; p.S266S; 14:104773485-104773485	skin	malignant_melanoma	Substitution - coding silent
c.360C>T; p.F120F; 14:104775727-104775727	skin	malignant_melanoma	Substitution - coding silent
c.932G>A; p.G311D; 14:104773276-104773276	skin	malignant_melanoma	Substitution - Missense
c.388G>A; p.G130R; 14:104775699-104775699	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.152C>T; p.P51L; 14:104780111-104780111	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.68G>A; p.R23Q; 14:104780195-104780195	soft_tissue; blood_vessel	angiosarcoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fibrous_tissue_and_uncertain_o	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; blood_vessel	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fibrous_tissue_and_uncertain_o	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fibrous_tissue_and_uncertain_o	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fibrous_tissue_and_uncertain_o	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fibrous_tissue_and_uncertain_o	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	soft_tissue; fat	Overgrowth_syndrome; Proteus_syndrome	Substitution - Missense
c.432C>T; p.R144R; 14:104775655-104775655	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1008C>T; p.G336G; 14:104773042-104773042	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1339A>G; p.I447V; 14:104770769-104770769	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1250A>G; p.Y417C; 14:104772375-104772375	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.438C>A; p.T146T; 14:104775205-104775205	stomach	adenocarcinoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	thymus	thymoma	Substitution - Missense
c.324C>T; p.D108D; 14:104775763-104775763	thyroid	carcinoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; Hurthle_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	adenoma-nodule-goitre	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; papillary_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.399G>C; p.E133D; 14:104775688-104775688	thyroid	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1152C>G; p.L384L; 14:104772898-104772898	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1416C>T; p.F472F; 14:104770368-104770368	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1133C>G; p.S378C; 14:104772917-104772917	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.324C>T; p.D108D; 14:104775763-104775763	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.205C>A; p.R69R; 14:104776741-104776741	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.49G>A; p.E17K; 14:104780214-104780214	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.145G>A; p.E49K; 14:104780118-104780118	urinary_tract; bladder	carcinoma	Substitution - Missense
c.322G>A; p.D108N; 14:104775765-104775765	urinary_tract; bladder	carcinoma	Substitution - Missense
c.726G>A; p.E242E; 14:104773557-104773557	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.968A>G; p.D323G; 14:104773082-104773082	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.968A>G; p.D323G; 14:104773082-104773082	urinary_tract; bladder	carcinoma	Substitution - Missense
c.742G>C; p.D248H; 14:104773541-104773541	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.742G>C; p.D248H; 14:104773541-104773541	urinary_tract; bladder	carcinoma	Substitution - Missense

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COSMIC confirmed somatic mutation [Top]

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