Entrez Gene

Basic Information
Gene ID	11093
Name	ADAMTS13
Synonymous	ADAM metallopeptidase with thrombospondin type 1 motif, 13;ADAMTS13;ADAM metallopeptidase with thrombospondin type 1 motif, 13
Definition	A disintegrin and metalloproteinase with thrombospondin motifs 13\|a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13\|vWF-cleaving protease\|von Willebrand factor-cleaving protease
Position	9q34
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.93C>T; p.S31S; 9:133422536-133422536	skin	malignant_melanoma	Substitution - coding silent
c.304C>T; p.R102C; 9:133424452-133424452	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3614T>C; p.M1205T; 9:133456114-133456114	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3194T>C; p.V1065A; 9:133454564-133454564	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2849C>G; p.P950R; 9:133448716-133448716	liver	carcinoma	Substitution - Missense
c.1804C>T; p.R602C; 9:133440361-133440361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4205G>A; p.R1402Q; 9:133459101-133459101	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.634G>T; p.E212*; 9:133426293-133426293	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1437G>A; p.G479G; 9:133437750-133437750	skin	malignant_melanoma	Substitution - coding silent
c.2287C>T; p.R763W; 9:133443428-133443428	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.2699C>T; p.A900V; 9:133445787-133445787	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.4042G>A; p.A1348T; 9:133458059-133458059	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2699C>T; p.A900V; 9:133445787-133445787	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2999G>A; p.R1000H; 9:133449920-133449920	skin	malignant_melanoma	Substitution - Missense
c.1864G>C; p.E622Q; 9:133440421-133440421	breast	carcinoma	Substitution - Missense
c.4039G>A; p.G1347S; 9:133458056-133458056	skin	malignant_melanoma	Substitution - Missense
c.1787C>T; p.A596V; 9:133440344-133440344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1787-5G>A; p.?; 9:133440339-133440339	pancreas	carcinoma	Unknown
c.3138G>T; p.Q1046H; 9:133454508-133454508	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2048G>C; p.R683P; 9:133442478-133442478	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2936G>A; p.R979Q; 9:133449857-133449857	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.3747C>T; p.T1249T; 9:133456574-133456574	skin	malignant_melanoma	Substitution - coding silent
c.2066C>T; p.A689V; 9:133442496-133442496	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2068G>A; p.A690T; 9:133442498-133442498	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1821G>T; p.G607G; 9:133440378-133440378	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2685C>T; p.H895H; 9:133445773-133445773	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1669C>T; p.P557S; 9:133438330-133438330	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3740G>A; p.R1247Q; 9:133456567-133456567	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.360delG; p.A122fs*8; 9:133425558-133425558	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.4255C>T; p.Q1419*; 9:133459151-133459151	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.3930C>T; p.I1310I; 9:133457947-133457947	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.135C>T; p.A45A; 9:133423130-133423130	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.961G>A; p.A321T; 9:133430075-133430075	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3955A>C; p.T1319P; 9:133457972-133457972	skin	malignant_melanoma	Substitution - Missense
c.1193G>A; p.R398H; 9:133433478-133433478	skin	malignant_melanoma	Substitution - Missense
c.261C>T; p.A87A; 9:133424409-133424409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.468G>A; p.G156G; 9:133425991-133425991	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1193G>A; p.R398H; 9:133433478-133433478	skin	malignant_melanoma	Substitution - Missense
c.540-1G>T; p.?; 9:133426198-133426198	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3010C>T; p.Q1004*; 9:133449931-133449931	skin	malignant_melanoma	Substitution - Nonsense
c.1710T>A; p.Y570*; 9:133439370-133439370	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.920C>T; p.A307V; 9:133430034-133430034	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2596C>A; p.P866T; 9:133445038-133445038	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3367C>T; p.R1123C; 9:133455402-133455402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3302G>A; p.G1101E; 9:133455337-133455337	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2396delG; p.C799fs*44; 9:133443537-133443537	large_intestine; rectum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.354G>A; p.P118P; 9:133425552-133425552	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1417G>T; p.A473S; 9:133436937-133436937	breast	carcinoma	Substitution - Missense
c.4032C>T; p.T1344T; 9:133458049-133458049	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1275T>G; p.G425G; 9:133433671-133433671	thyroid	other; neoplasm	Substitution - coding silent
c.1188C>A; p.C396*; 9:133433473-133433473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1788G>A; p.A596A; 9:133440345-133440345	skin	malignant_melanoma	Substitution - coding silent
c.2464G>C; p.A822P; 9:133444906-133444906	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1463G>A; p.R488Q; 9:133437776-133437776	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1917C>G; p.R639R; 9:133440474-133440474	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2626G>A; p.A876T; 9:133445714-133445714	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3497G>A; p.G1166D; 9:133455532-133455532	pancreas	carcinoid-endocrine_tumour	Substitution - Missense
c.3250T>G; p.C1084G; 9:133455285-133455285	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1442C>G; p.A481G; 9:133437755-133437755	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1652A>G; p.D551G; 9:133438313-133438313	skin; face	malignant_melanoma	Substitution - Missense
c.2989G>T; p.G997W; 9:133449910-133449910	breast	carcinoma	Substitution - Missense
c.897G>A; p.A299A; 9:133430011-133430011	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3681C>T; p.L1227L; 9:133456181-133456181	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1807T>C; p.Y603H; 9:133440364-133440364	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.1987G>A; p.E663K; 9:133442417-133442417	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1613C>T; p.S538F; 9:133438274-133438274	NS	malignant_melanoma	Substitution - Missense
c.1613C>T; p.S538F; 9:133438274-133438274	NS	malignant_melanoma	Substitution - Missense
c.2998C>T; p.R1000C; 9:133449919-133449919	skin	malignant_melanoma	Substitution - Missense
c.1498G>A; p.D500N; 9:133437811-133437811	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4207G>A; p.G1403S; 9:133459103-133459103	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2669G>T; p.G890V; 9:133445757-133445757	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3368G>A; p.R1123H; 9:133455403-133455403	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1866G>T; p.E622D; 9:133440423-133440423	pancreas	carcinoma	Substitution - Missense
c.1866G>T; p.E622D; 9:133440423-133440423	pancreas	carcinoma	Substitution - Missense
c.4213T>C; p.Y1405H; 9:133459109-133459109	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.73C>T; p.L25L; 9:133422516-133422516	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.4071C>T; p.Y1357Y; 9:133458088-133458088	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1377C>T; p.R459R; 9:133436897-133436897	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.230G>A; p.G77D; 9:133424378-133424378	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1774T>C; p.F592L; 9:133439434-133439434	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1903G>T; p.D635Y; 9:133440460-133440460	liver	carcinoma	Substitution - Missense
c.404C>T; p.T135I; 9:133425602-133425602	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.544G>A; p.D182N; 9:133426203-133426203	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2728C>T; p.R910*; 9:133445816-133445816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2070T>A; p.A690A; 9:133442500-133442500	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2609A>T; p.H870L; 9:133445051-133445051	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2551G>T; p.E851*; 9:133444993-133444993	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2709G>T; p.S903S; 9:133445797-133445797	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3342G>T; p.Q1114H; 9:133455377-133455377	central_nervous_system; brain	glioma; astrocytoma_Grade_III	Substitution - Missense
c.2490C>T; p.T830T; 9:133444932-133444932	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2762A>G; p.D921G; 9:133448629-133448629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2074C>T; p.R692C; 9:133442504-133442504	pancreas	carcinoma	Substitution - Missense
c.1812C>T; p.V604V; 9:133440369-133440369	skin	malignant_melanoma	Substitution - coding silent
c.3400G>T; p.G1134C; 9:133455435-133455435	thyroid	other; neoplasm	Substitution - Missense
c.3688C>T; p.L1230F; 9:133456188-133456188	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4078-1G>T; p.?; 9:133458973-133458973	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.1421T>A; p.V474E; 9:133436941-133436941	oesophagus	carcinoma	Substitution - Missense
c.2130C>T; p.C710C; 9:133442639-133442639	skin	malignant_melanoma	Substitution - coding silent
c.1539C>T; p.P513P; 9:133437852-133437852	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1363G>T; p.G455C; 9:133436883-133436883	liver	carcinoma	Substitution - Missense
c.1813G>C; p.V605L; 9:133440370-133440370	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.3227G>A; p.W1076*; 9:133454597-133454597	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.324C>T; p.L108L; 9:133424472-133424472	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.3227G>A; p.W1076*; 9:133454597-133454597	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3741G>A; p.R1247R; 9:133456568-133456568	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2284C>A; p.L762M; 9:133443425-133443425	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2817T>C; p.P939P; 9:133448684-133448684	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1435G>T; p.G479W; 9:133436955-133436955	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3008C>T; p.P1003L; 9:133449929-133449929	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2754G>A; p.L918L; 9:133448621-133448621	prostate	carcinoma	Substitution - coding silent
c.582C>T; p.G194G; 9:133426241-133426241	thyroid	other; neoplasm	Substitution - coding silent
c.3216C>G; p.C1072W; 9:133454586-133454586	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.3957G>A; p.T1319T; 9:133457974-133457974	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1740G>C; p.L580L; 9:133439400-133439400	liver	carcinoma	Substitution - coding silent
c.1423C>T; p.P475S; 9:133436943-133436943	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Substitution - Missense
c.1944C>T; p.P648P; 9:133440501-133440501	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2012C>A; p.P671Q; 9:133442442-133442442	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.3202C>T; p.L1068F; 9:133454572-133454572	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3527G>A; p.R1176Q; 9:133455562-133455562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3975C>T; p.C1325C; 9:133457992-133457992	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3433G>A; p.A1145T; 9:133455468-133455468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3684C>T; p.R1228R; 9:133456184-133456184	liver	carcinoma	Substitution - coding silent
c.3684C>T; p.R1228R; 9:133456184-133456184	liver	carcinoma	Substitution - coding silent
c.3687C>T; p.V1229V; 9:133456187-133456187	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2815C>T; p.P939S; 9:133448682-133448682	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3307C>T; p.Q1103*; 9:133455342-133455342	skin	malignant_melanoma	Substitution - Nonsense
c.2457T>A; p.A819A; 9:133444899-133444899	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2457T>A; p.A819A; 9:133444899-133444899	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.2457T>A; p.A819A; 9:133444899-133444899	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - coding silent
c.3535C>T; p.L1179L; 9:133455570-133455570	skin	malignant_melanoma	Substitution - coding silent
c.373C>T; p.R125W; 9:133425571-133425571	skin	malignant_melanoma	Substitution - Missense
c.373C>T; p.R125W; 9:133425571-133425571	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2620A>G; p.T874A; 9:133445708-133445708	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3848T>G; p.L1283R; 9:133456675-133456675	skin	malignant_melanoma	Substitution - Missense
c.4239G>A; p.P1413P; 9:133459135-133459135	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2081C>T; p.P694L; 9:133442511-133442511	skin	malignant_melanoma	Substitution - Missense
c.1493G>A; p.R498H; 9:133437806-133437806	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3615G>A; p.M1205I; 9:133456115-133456115	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3074C>T; p.S1025L; 9:133454444-133454444	skin; upper_leg	malignant_melanoma	Substitution - Missense
c.1611C>T; p.D537D; 9:133438272-133438272	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2457T>C; p.A819A; 9:133444899-133444899	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2214G>A; p.V738V; 9:133442723-133442723	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.331G>A; p.G111R; 9:133425529-133425529	skin	malignant_melanoma	Substitution - Missense
c.2890G>A; p.V964M; 9:133449811-133449811	breast	carcinoma	Substitution - Missense
c.2890G>A; p.V964M; 9:133449811-133449811	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3685G>A; p.V1229I; 9:133456185-133456185	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1852C>G; p.P618A; 9:133440409-133440409	thyroid	other; neoplasm	Substitution - Missense
c.1342C>G; p.Q448E; 9:133436862-133436862	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2869T>C; p.Y957H; 9:133449790-133449790	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3656G>A; p.R1219Q; 9:133456156-133456156	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3158C>T; p.A1053V; 9:133454528-133454528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3253T>G; p.S1085A; 9:133455288-133455288	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3313C>A; p.Q1105K; 9:133455348-133455348	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1776C>T; p.F592F; 9:133439436-133439436	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2861G>C; p.R954P; 9:133448728-133448728	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2249A>T; p.D750V; 9:133443390-133443390	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.3682C>T; p.R1228C; 9:133456182-133456182	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.649G>C; p.D217H; 9:133426308-133426308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.4170_4171insA; p.S1391fs*>38; 9:133459066-133459067	breast	carcinoma	Insertion - Frameshift
c.1476G>A; p.E492E; 9:133437789-133437789	skin	malignant_melanoma	Substitution - coding silent
c.2737A>C; p.M913L; 9:133448604-133448604	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2265C>T; p.S755S; 9:133443406-133443406	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2879C>T; p.A960V; 9:133449800-133449800	kidney	Wilms_tumour	Substitution - Missense
c.3454G>A; p.A1152T; 9:133455489-133455489	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4041C>T; p.G1347G; 9:133458058-133458058	pancreas	carcinoma	Substitution - coding silent
c.580G>A; p.G194S; 9:133426239-133426239	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.349G>A; p.D117N; 9:133425547-133425547	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.598G>A; p.G200S; 9:133426257-133426257	breast	carcinoma	Substitution - Missense
c.3574T>C; p.C1192R; 9:133456074-133456074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1935C>A; p.I645I; 9:133440492-133440492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2521C>T; p.P841S; 9:133444963-133444963	skin	malignant_melanoma	Substitution - Missense
c.19C>T; p.R7W; 9:133422462-133422462	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.3655C>T; p.R1219W; 9:133456155-133456155	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2870A>T; p.Y957F; 9:133449791-133449791	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2048G>A; p.R683Q; 9:133442478-133442478	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3627G>A; p.G1209G; 9:133456127-133456127	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2870A>T; p.Y957F; 9:133449791-133449791	urinary_tract; bladder	carcinoma	Substitution - Missense
c.686+4T>G; p.?; 9:133426349-133426349	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.3978G>A; p.R1326R; 9:133457995-133457995	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3060C>A; p.S1020S; 9:133454430-133454430	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2211C>T; p.C737C; 9:133442720-133442720	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.565A>T; p.N189Y; 9:133426224-133426224	breast	carcinoma	Substitution - Missense
c.1873C>T; p.R625C; 9:133440430-133440430	skin; neck	malignant_melanoma	Substitution - Missense
c.3381T>C; p.A1127A; 9:133455416-133455416	skin	malignant_melanoma	Substitution - coding silent
c.3698C>A; p.S1233Y; 9:133456198-133456198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.330C>T; p.I110I; 9:133424478-133424478	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3179G>A; p.R1060Q; 9:133454549-133454549	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>C; p.E664Q; 9:133442420-133442420	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3183C>T; p.P1061P; 9:133454553-133454553	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2922C>T; p.I974I; 9:133449843-133449843	skin	malignant_melanoma	Substitution - coding silent
c.1001C>A; p.A334D; 9:133432601-133432601	oesophagus	carcinoma	Substitution - Missense
c.3942G>A; p.S1314S; 9:133457959-133457959	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.4234G>A; p.V1412I; 9:133459130-133459130	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.186C>T; p.S62S; 9:133424334-133424334	skin	malignant_melanoma	Substitution - coding silent
c.449C>T; p.S150F; 9:133425972-133425972	skin	malignant_melanoma	Substitution - Missense
c.2588C>T; p.S863L; 9:133445030-133445030	skin; arm	malignant_melanoma	Substitution - Missense
c.1931G>A; p.R644H; 9:133440488-133440488	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3967delG; p.G1324fs*36; 9:133457984-133457984	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1486A>G; p.M496V; 9:133437799-133437799	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.523G>A; p.V175I; 9:133426046-133426046	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3377G>T; p.W1126L; 9:133455412-133455412	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1978C>T; p.R660W; 9:133442408-133442408	breast	carcinoma	Substitution - Missense
c.3191G>A; p.S1064N; 9:133454561-133454561	skin	malignant_melanoma	Substitution - Missense
c.3280C>T; p.R1094C; 9:133455315-133455315	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1226G>A; p.R409Q; 9:133433511-133433511	skin	malignant_melanoma	Substitution - Missense
c.1890G>T; p.V630V; 9:133440447-133440447	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4080C>T; p.I1360I; 9:133458976-133458976	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.3208G>A; p.A1070T; 9:133454578-133454578	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1143A>G; p.A381A; 9:133433428-133433428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2142C>T; p.A714A; 9:133442651-133442651	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2222C>T; p.P741L; 9:133442731-133442731	skin	malignant_melanoma	Substitution - Missense
c.3463G>A; p.A1155T; 9:133455498-133455498	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2364G>T; p.G788G; 9:133443505-133443505	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4034A>G; p.N1345S; 9:133458051-133458051	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2121C>G; p.N707K; 9:133442630-133442630	pancreas	carcinoma	Substitution - Missense
c.1094G>T; p.W365L; 9:133433379-133433379	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3493C>T; p.R1165W; 9:133455528-133455528	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2317C>T; p.Q773*; 9:133443458-133443458	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.4040G>A; p.G1347D; 9:133458057-133458057	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4040G>A; p.G1347D; 9:133458057-133458057	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.947G>A; p.G316D; 9:133430061-133430061	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.21G>T; p.R7R; 9:133422464-133422464	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.4189G>C; p.A1397P; 9:133459085-133459085	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3272G>A; p.G1091D; 9:133455307-133455307	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.3356C>G; p.P1119R; 9:133455391-133455391	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3272G>A; p.G1091D; 9:133455307-133455307	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3182C>T; p.P1061L; 9:133454552-133454552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1583G>A; p.R528K; 9:133437896-133437896	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.924C>A; p.N308K; 9:133430038-133430038	liver	carcinoma	Substitution - Missense
c.924C>A; p.N308K; 9:133430038-133430038	liver	carcinoma	Substitution - Missense
c.2743C>A; p.L915M; 9:133448610-133448610	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.4015A>G; p.I1339V; 9:133458032-133458032	breast	carcinoma	Substitution - Missense
c.3320C>A; p.P1107H; 9:133455355-133455355	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.4263G>T; p.W1421C; 9:133459159-133459159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.120T>C; p.A40A; 9:133423115-133423115	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.3298C>A; p.L1100I; 9:133455333-133455333	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2009G>A; p.R670H; 9:133442439-133442439	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1356G>A; p.R452R; 9:133436876-133436876	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1470T>C; p.I490I; 9:133437783-133437783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.176G>A; p.R59H; 9:133424324-133424324	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2624C>G; p.S875C; 9:133445712-133445712	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3078C>T; p.A1026A; 9:133454448-133454448	breast	carcinoma	Substitution - coding silent
c.331-2A>G; p.?; 9:133425527-133425527	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.3527G>C; p.R1176P; 9:133455562-133455562	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1636C>A; p.Q546K; 9:133438297-133438297	prostate	adenoma	Substitution - Missense
c.34_35CC>TT; p.P12F; 9:133422477-133422478	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3261C>T; p.S1087S; 9:133455296-133455296	skin	malignant_melanoma	Substitution - coding silent

COSMIC somatic mutation [Top]