Entrez Gene

Basic Information
Gene ID	3757
Name	KCNH2
Synonymous	potassium channel, voltage gated eag related subfamily H, member 2;KCNH2;potassium channel, voltage gated eag related subfamily H, member 2
Definition	eag homolog\|eag-related protein 1\|ether-a-go-go-related gene potassium channel 1\|ether-a-go-go-related potassium channel protein\|ether-a-go-go-related protein 1\|potassium voltage-gated channel subfamily H member 2\|potassium voltage-gated channel, subfamil
Position	7q36.1
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1403T>C; p.L468P; 7:150952579-150952579	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.635T>C; p.L212P; 7:150958340-150958340	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.387C>T; p.F129F; 7:150959657-150959657	skin	malignant_melanoma	Substitution - coding silent
c.3371C>T; p.A1124V; 7:150945474-150945474	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2669C>T; p.S890F; 7:150948467-150948467	skin	malignant_melanoma	Substitution - Missense
c.1345_1347delTGC; p.C449delC; 7:150952635-150952637	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - In frame
c.3140G>T; p.R1047L; 7:150947340-150947340	large_intestine; rectum	NS	Substitution - Missense
c.1147G>C; p.D383H; 7:150952835-150952835	skin	malignant_melanoma	Substitution - Missense
c.1302_1303GG>AA; p.E435K; 7:150952679-150952680	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2206C>T; p.L736L; 7:150950360-150950360	skin	malignant_melanoma	Substitution - coding silent
c.446G>C; p.G149A; 7:150959598-150959598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>C; p.G149A; 7:150959598-150959598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.446G>C; p.G149A; 7:150959598-150959598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>C; p.G149A; 7:150959598-150959598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.446G>C; p.G149A; 7:150959598-150959598	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.271G>A; p.E91K; 7:150974747-150974747	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2050A>T; p.I684F; 7:150951016-150951016	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2892delC; p.G965fs*9; 7:150947679-150947679	autonomic_ganglia	neuroblastoma	Deletion - Frameshift
c.2399-4C>G; p.?; 7:150949053-150949053	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Unknown
c.2050A>T; p.I684F; 7:150951016-150951016	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2966-1G>C; p.?; 7:150947515-150947515	skin; trunk	malignant_melanoma	Unknown
c.2014C>T; p.R672C; 7:150951052-150951052	skin	malignant_melanoma	Substitution - Missense
c.1103A>G; p.H368R; 7:150957316-150957316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2014C>T; p.R672C; 7:150951052-150951052	skin	malignant_melanoma	Substitution - Missense
c.972C>T; p.L324L; 7:150957447-150957447	skin	malignant_melanoma	Substitution - coding silent
c.972C>T; p.L324L; 7:150957447-150957447	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.972C>T; p.L324L; 7:150957447-150957447	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3406C>A; p.L1136I; 7:150945439-150945439	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1956T>C; p.Y652Y; 7:150951110-150951110	thyroid	other; neoplasm	Substitution - coding silent
c.3328C>G; p.Q1110E; 7:150946879-150946879	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.561C>T; p.G187G; 7:150958414-150958414	liver	carcinoma	Substitution - coding silent
c.1175C>T; p.A392V; 7:150952807-150952807	liver	carcinoma	Substitution - Missense
c.2681G>A; p.R894H; 7:150948455-150948455	stomach	adenocarcinoma	Substitution - Missense
c.1309G>A; p.E437K; 7:150952673-150952673	skin	malignant_melanoma	Substitution - Missense
c.1147G>A; p.D383N; 7:150952835-150952835	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1692A>G; p.L564L; 7:150951701-150951701	thyroid	other; neoplasm	Substitution - coding silent
c.1147G>A; p.D383N; 7:150952835-150952835	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1692A>G; p.L564L; 7:150951701-150951701	thyroid	other; neoplasm	Substitution - coding silent
c.1692A>G; p.L564L; 7:150951701-150951701	breast	carcinoma	Substitution - coding silent
c.1147G>A; p.D383N; 7:150952835-150952835	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1876G>T; p.G626C; 7:150951517-150951517	central_nervous_system; brain	glioma	Substitution - Missense
c.1876G>T; p.G626C; 7:150951517-150951517	lung	carcinoma; large_cell_carcinoma	Substitution - Missense
c.1189C>A; p.R397S; 7:150952793-150952793	thyroid	other; neoplasm	Substitution - Missense
c.379C>T; p.L127F; 7:150959665-150959665	NS	malignant_melanoma	Substitution - Missense
c.1402C>T; p.L468F; 7:150952580-150952580	skin	malignant_melanoma	Substitution - Missense
c.453delC; p.T152fs*14; 7:150959591-150959591	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.453delC; p.T152fs*14; 7:150959591-150959591	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.453delC; p.T152fs*14; 7:150959591-150959591	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.453delC; p.T152fs*14; 7:150959591-150959591	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.453delC; p.T152fs*14; 7:150959591-150959591	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1968C>T; p.F656F; 7:150951098-150951098	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1563C>T; p.I521I; 7:150951830-150951830	skin; abdomen	malignant_melanoma	Substitution - coding silent
c.453delC; p.T152fs*14; 7:150959591-150959591	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1781G>A; p.G594D; 7:150951612-150951612	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1737G>A; p.M579I; 7:150951656-150951656	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2026C>T; p.Q676*; 7:150951040-150951040	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3250C>A; p.P1084T; 7:150946957-150946957	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2458G>A; p.G820R; 7:150948990-150948990	stomach	adenocarcinoma	Substitution - Missense
c.1407C>T; p.I469I; 7:150952575-150952575	skin	malignant_melanoma	Substitution - coding silent
c.2965+2T>C; p.?; 7:150947604-150947604	skin	malignant_melanoma	Unknown
c.2351G>T; p.R784L; 7:150950215-150950215	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3228C>T; p.P1076P; 7:150946979-150946979	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1655T>C; p.L552S; 7:150951738-150951738	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1303G>A; p.E435K; 7:150952679-150952679	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2281A>T; p.T761S; 7:150950285-150950285	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1819A>G; p.I607V; 7:150951574-150951574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1324G>T; p.A442S; 7:150952658-150952658	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2380G>A; p.V794I; 7:150950186-150950186	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2380G>A; p.V794I; 7:150950186-150950186	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2380G>A; p.V794I; 7:150950186-150950186	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2380G>A; p.V794I; 7:150950186-150950186	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2074C>T; p.P692S; 7:150950992-150950992	skin	malignant_melanoma	Substitution - Missense
c.2081G>A; p.R694H; 7:150950985-150950985	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1389C>T; p.F463F; 7:150952593-150952593	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1639G>A; p.A547T; 7:150951754-150951754	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2674C>G; p.R892G; 7:150948462-150948462	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2690A>C; p.K897T; 7:150948446-150948446	thyroid	other; neoplasm	Substitution - Missense
c.1581G>A; p.A527A; 7:150951812-150951812	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2690A>C; p.K897T; 7:150948446-150948446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2690A>C; p.K897T; 7:150948446-150948446	thyroid	other; neoplasm	Substitution - Missense
c.1580C>T; p.A527V; 7:150951813-150951813	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.794G>A; p.C265Y; 7:150958181-150958181	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3182C>T; p.A1061V; 7:150947025-150947025	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.427C>T; p.H143Y; 7:150959617-150959617	skin	malignant_melanoma	Substitution - Missense
c.2231G>A; p.R744Q; 7:150950335-150950335	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2231G>A; p.R744Q; 7:150950335-150950335	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1913A>G; p.K638R; 7:150951480-150951480	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1475A>G; p.H492R; 7:150952507-150952507	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.2058C>T; p.F686F; 7:150951008-150951008	skin	malignant_melanoma	Substitution - coding silent
c.1838C>T; p.T613M; 7:150951555-150951555	skin	malignant_melanoma	Substitution - Missense
c.2775_2776insG; p.P926fs*14; 7:150947795-150947796	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1475A>G; p.H492R; 7:150952507-150952507	stomach	adenocarcinoma	Substitution - Missense
c.11G>A; p.R4Q; 7:150977903-150977903	skin	malignant_melanoma	Substitution - Missense
c.2777C>T; p.P926L; 7:150947794-150947794	liver	carcinoma	Substitution - Missense
c.1471G>A; p.V491I; 7:150952511-150952511	haematopoietic_and_lymphoid_tissue; central_nervous_system	lymphoid_neoplasm; primary_central_nervous_system_lymphoma	Substitution - Missense
c.2777C>T; p.P926L; 7:150947794-150947794	liver	carcinoma	Substitution - Missense
c.2407G>A; p.D803N; 7:150949041-150949041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1469C>T; p.A490V; 7:150952513-150952513	skin	malignant_melanoma	Substitution - Missense
c.983G>A; p.R328H; 7:150957436-150957436	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2092G>A; p.E698K; 7:150950974-150950974	skin	malignant_melanoma	Substitution - Missense
c.2092G>A; p.E698K; 7:150950974-150950974	skin	malignant_melanoma	Substitution - Missense
c.3007delG; p.D1003fs*54; 7:150947473-150947473	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2943C>T; p.S981S; 7:150947628-150947628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2943C>T; p.S981S; 7:150947628-150947628	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3390A>T; p.E1130D; 7:150945455-150945455	ovary	other; neoplasm	Substitution - Missense
c.3127G>A; p.D1043N; 7:150947353-150947353	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1181G>A; p.R394H; 7:150952801-150952801	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1682C>T; p.A561V; 7:150951711-150951711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.327G>A; p.L109L; 7:150959717-150959717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.982C>A; p.R328S; 7:150957437-150957437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3203A>T; p.Q1068L; 7:150947004-150947004	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1440G>A; p.E480E; 7:150952542-150952542	skin; arm	malignant_melanoma	Substitution - coding silent
c.2196G>A; p.L732L; 7:150950370-150950370	skin	malignant_melanoma	Substitution - coding silent
c.2910G>A; p.G970G; 7:150947661-150947661	skin	malignant_melanoma	Substitution - coding silent
c.1959T>C; p.A653A; 7:150951107-150951107	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1980G>A; p.S660S; 7:150951086-150951086	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3298delC; p.L1100fs*>60; 7:150946909-150946909	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2551C>G; p.H851D; 7:150948897-150948897	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1092G>A; p.K364K; 7:150957327-150957327	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2678G>A; p.R893K; 7:150948458-150948458	breast	carcinoma	Substitution - Missense
c.1524C>A; p.F508L; 7:150952458-150952458	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.929C>A; p.P310Q; 7:150957490-150957490	thyroid	other; neoplasm	Substitution - Missense
c.343G>A; p.V115M; 7:150959701-150959701	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1322C>A; p.P441H; 7:150952660-150952660	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1276C>T; p.P426S; 7:150952706-150952706	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1097G>A; p.R366Q; 7:150957322-150957322	skin	malignant_melanoma	Substitution - Missense
c.1097G>A; p.R366Q; 7:150957322-150957322	breast	carcinoma	Substitution - Missense
c.1097G>A; p.R366Q; 7:150957322-150957322	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.973G>A; p.V325M; 7:150957446-150957446	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.352G>A; p.E118K; 7:150959692-150959692	skin	malignant_melanoma	Substitution - Missense
c.1272C>T; p.F424F; 7:150952710-150952710	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.894G>A; p.P298P; 7:150958081-150958081	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.453_454insC; p.T152fs*180; 7:150959590-150959591	large_intestine; rectum	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2247C>G; p.G749G; 7:150950319-150950319	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2453C>G; p.S818W; 7:150948995-150948995	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2608G>T; p.G870C; 7:150948528-150948528	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2143G>C; p.A715P; 7:150950923-150950923	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1513G>A; p.A505T; 7:150952469-150952469	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1193G>A; p.W398*; 7:150952789-150952789	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1845C>G; p.L615L; 7:150951548-150951548	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1193G>A; p.W398*; 7:150952789-150952789	skin	malignant_melanoma	Substitution - Nonsense
c.1193G>A; p.W398*; 7:150952789-150952789	skin	malignant_melanoma	Substitution - Nonsense
c.1052C>T; p.S351L; 7:150957367-150957367	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2331C>T; p.T777T; 7:150950235-150950235	skin	malignant_melanoma	Substitution - coding silent
c.884T>G; p.V295G; 7:150958091-150958091	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.2331C>T; p.T777T; 7:150950235-150950235	parathyroid	adenoma	Substitution - coding silent
c.1401C>T; p.I467I; 7:150952581-150952581	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1608G>A; p.A536A; 7:150951785-150951785	pancreas	carcinoma	Substitution - coding silent
c.3400C>T; p.R1134*; 7:150945445-150945445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1074C>G; p.I358M; 7:150957345-150957345	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2450A>G; p.K817R; 7:150948998-150948998	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2011G>A; p.A671T; 7:150951055-150951055	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2450A>G; p.K817R; 7:150948998-150948998	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3430delG; p.A1144fs*>16; 7:150945415-150945415	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1524C>T; p.F508F; 7:150952458-150952458	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.308G>A; p.G103E; 7:150959736-150959736	bone; tibia	chondrosarcoma	Substitution - Missense
c.1524C>T; p.F508F; 7:150952458-150952458	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2052C>T; p.I684I; 7:150951014-150951014	skin	malignant_melanoma	Substitution - coding silent
c.1224C>T; p.A408A; 7:150952758-150952758	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.3229G>A; p.A1077T; 7:150946978-150946978	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2376C>T; p.G792G; 7:150950190-150950190	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.452C>A; p.P151H; 7:150959592-150959592	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1803C>T; p.G601G; 7:150951590-150951590	skin	malignant_melanoma	Substitution - coding silent
c.966C>T; p.S322S; 7:150957453-150957453	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1345T>C; p.C449R; 7:150952637-150952637	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2348C>T; p.S783F; 7:150950218-150950218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.170C>A; p.A57D; 7:150974848-150974848	liver	carcinoma	Substitution - Missense
c.170C>A; p.A57D; 7:150974848-150974848	liver	carcinoma	Substitution - Missense
c.2587C>T; p.R863*; 7:150948861-150948861	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3275C>T; p.S1092F; 7:150946932-150946932	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1099A>G; p.T367A; 7:150957320-150957320	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3326C>G; p.S1109C; 7:150946881-150946881	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2184C>A; p.I728I; 7:150950382-150950382	skin	malignant_melanoma	Substitution - coding silent
c.2292G>A; p.P764P; 7:150950274-150950274	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2588G>A; p.R863Q; 7:150948860-150948860	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2588G>A; p.R863Q; 7:150948860-150948860	NS	malignant_melanoma	Substitution - Missense
c.2588G>A; p.R863Q; 7:150948860-150948860	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2588G>A; p.R863Q; 7:150948860-150948860	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1894C>T; p.P632S; 7:150951499-150951499	skin	malignant_melanoma	Substitution - Missense
c.488T>G; p.F163C; 7:150958487-150958487	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2313T>A; p.H771Q; 7:150950253-150950253	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.399G>A; p.M133I; 7:150959645-150959645	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2605C>T; p.P869S; 7:150948531-150948531	skin	malignant_melanoma	Substitution - Missense
c.3176A>G; p.D1059G; 7:150947031-150947031	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1725G>A; p.E575E; 7:150951668-150951668	skin	malignant_melanoma	Substitution - coding silent
c.1143C>T; p.G381G; 7:150952839-150952839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1621C>T; p.R541C; 7:150951772-150951772	skin	malignant_melanoma	Substitution - Missense
c.1583G>A; p.R528Q; 7:150951810-150951810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1559T>C; p.L520P; 7:150951834-150951834	thyroid	carcinoma	Substitution - Missense
c.1443G>C; p.E481D; 7:150952539-150952539	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1600C>T; p.R534C; 7:150951793-150951793	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1944C>T; p.G648G; 7:150951449-150951449	skin	malignant_melanoma	Substitution - coding silent
c.2097G>A; p.E699E; 7:150950969-150950969	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2685G>A; p.T895T; 7:150948451-150948451	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.3307C>T; p.L1103F; 7:150946900-150946900	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2134G>A; p.D712N; 7:150950932-150950932	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2685G>A; p.T895T; 7:150948451-150948451	thyroid	other; neoplasm	Substitution - coding silent
c.1066C>A; p.R356S; 7:150957353-150957353	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1771G>C; p.D591H; 7:150951622-150951622	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.655delG; p.D219fs*141; 7:150958320-150958320	prostate	carcinoma	Deletion - Frameshift
c.3223C>T; p.P1075S; 7:150946984-150946984	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.299G>A; p.R100Q; 7:150974719-150974719	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2201G>A; p.R734H; 7:150950365-150950365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2569G>A; p.E857K; 7:150948879-150948879	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2268G>A; p.M756I; 7:150950298-150950298	skin	malignant_melanoma	Substitution - Missense
c.2236G>T; p.A746S; 7:150950330-150950330	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1325C>T; p.A442V; 7:150952657-150952657	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.361G>A; p.A121T; 7:150959683-150959683	breast	carcinoma	Substitution - Missense
c.430G>T; p.D144Y; 7:150959614-150959614	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1014C>T; p.L338L; 7:150957405-150957405	breast	carcinoma	Substitution - coding silent
c.1591C>T; p.R531W; 7:150951802-150951802	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1565G>A; p.G522E; 7:150951828-150951828	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3289G>A; p.V1097I; 7:150946918-150946918	skin	malignant_melanoma	Substitution - Missense
c.3289G>A; p.V1097I; 7:150946918-150946918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1957G>A; p.A653T; 7:150951109-150951109	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2003C>T; p.S668L; 7:150951063-150951063	breast	carcinoma	Substitution - Missense
c.2486A>G; p.D829G; 7:150948962-150948962	skin	malignant_melanoma	Substitution - Missense
c.682G>A; p.A228T; 7:150958293-150958293	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2654G>A; p.R885H; 7:150948482-150948482	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2042G>T; p.R681L; 7:150951024-150951024	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1426G>A; p.V476I; 7:150952556-150952556	pancreas	carcinoma	Substitution - Missense
c.3280C>A; p.L1094M; 7:150946927-150946927	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1426G>A; p.V476I; 7:150952556-150952556	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1438G>A; p.E480K; 7:150952544-150952544	skin	malignant_melanoma	Substitution - Missense
c.1438G>A; p.E480K; 7:150952544-150952544	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1888G>A; p.V630I; 7:150951505-150951505	breast	carcinoma	Substitution - Missense
c.2243A>C; p.K748T; 7:150950323-150950323	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1438G>A; p.E480K; 7:150952544-150952544	skin	malignant_melanoma	Substitution - Missense
c.1888G>A; p.V630I; 7:150951505-150951505	breast	carcinoma	Substitution - Missense
c.2264C>A; p.A755D; 7:150950302-150950302	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.468C>T; p.A156A; 7:150959576-150959576	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1017C>A; p.N339K; 7:150957402-150957402	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1201C>A; p.L401M; 7:150952781-150952781	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3300C>A; p.L1100L; 7:150946907-150946907	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3322C>G; p.L1108V; 7:150946885-150946885	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1284G>A; p.S428S; 7:150952698-150952698	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1677C>T; p.L559L; 7:150951716-150951716	prostate	carcinoma	Substitution - coding silent
c.1A>T; p.M1L; 7:150977913-150977913	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3155T>A; p.L1052Q; 7:150947052-150947052	liver	carcinoma	Substitution - Missense
c.1525G>A; p.D509N; 7:150952457-150952457	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1525G>A; p.D509N; 7:150952457-150952457	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1922C>T; p.S641F; 7:150951471-150951471	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2019C>T; p.Y673Y; 7:150951047-150951047	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1610G>A; p.R537Q; 7:150951783-150951783	stomach	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]