| Gene information | Literature | Expression | lncRNA | Mutation | Homolog |
Basic Information | |
|---|---|
Gene ID | 2065 |
Name | ERBB3 |
Synonymous | erb-b2 receptor tyrosine kinase 3;ERBB3;erb-b2 receptor tyrosine kinase 3 |
Definition | human epidermal growth factor receptor 3|proto-oncogene-like protein c-ErbB-3|receptor tyrosine-protein kinase erbB-3|tyrosine kinase-type cell surface receptor HER3|v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 |
Position | 12q13 |
Gene Type | protein-coding |
COSMIC confirmed somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1019T>C; p.F340S; 12:56088778-56088778 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.303C>A; p.N101K; 12:56085063-56085063 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.303C>A; p.N101K; 12:56085063-56085063 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.3104T>A; p.V1035D; 12:56100004-56100004 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.3104T>A; p.V1035D; 12:56100004-56100004 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.1276C>T; p.R426W; 12:56093346-56093346 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.988+9G>C; p.?; 12:56088665-56088665 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.310G>T; p.V104L; 12:56085070-56085070 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - Missense |
c.3340A>G; p.M1114V; 12:56101199-56101199 |
bone; rib | chondrosarcoma | Substitution - Missense |
c.1661C>T; p.P554L; 12:56094146-56094146 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.2374C>G; p.L792V; 12:56097144-56097144 |
breast | carcinoma | Substitution - Missense |
c.3782A>C; p.E1261A; 12:56101808-56101808 |
breast | carcinoma | Substitution - Missense |
c.2000G>T; p.R667L; 12:56095751-56095751 |
breast | carcinoma | Substitution - Missense |
c.282C>G; p.F94L; 12:56085042-56085042 |
breast | carcinoma | Substitution - Missense |
c.2347C>G; p.L783V; 12:56097117-56097117 |
breast | carcinoma | Substitution - Missense |
c.413A>T; p.Q138L; 12:56085173-56085173 |
breast | carcinoma | Substitution - Missense |
c.2157C>A; p.V719V; 12:56096604-56096604 |
breast | carcinoma | Substitution - coding silent |
c.3079C>A; p.L1027M; 12:56099979-56099979 |
breast | carcinoma | Substitution - Missense |
c.1819C>G; p.Q607E; 12:56094516-56094516 |
breast | carcinoma | Substitution - Missense |
c.1747C>T; p.P583S; 12:56094444-56094444 |
breast | carcinoma | Substitution - Missense |
c.3692T>C; p.L1231P; 12:56101718-56101718 |
breast | carcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
breast | carcinoma | Substitution - Missense |
c.1833G>C; p.R611R; 12:56094530-56094530 |
breast | carcinoma | Substitution - coding silent |
c.850G>A; p.G284R; 12:56088138-56088138 |
breast | carcinoma | Substitution - Missense |
c.1582G>T; p.V528F; 12:56093865-56093865 |
breast | carcinoma | Substitution - Missense |
c.3747G>A; p.M1249I; 12:56101773-56101773 |
breast | carcinoma | Substitution - Missense |
c.1064C>T; p.T355I; 12:56088823-56088823 |
breast | carcinoma | Substitution - Missense |
c.1064C>T; p.T355I; 12:56088823-56088823 |
breast | carcinoma | Substitution - Missense |
c.1132G>C; p.A378P; 12:56092769-56092769 |
breast | carcinoma | Substitution - Missense |
c.3505A>C; p.T1169P; 12:56101531-56101531 |
breast | carcinoma | Substitution - Missense |
c.2938-3T>C; p.?; 12:56099835-56099835 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Unknown |
c.179T>G; p.M60R; 12:56083847-56083847 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.889G>A; p.D297N; 12:56088557-56088557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1423C>T; p.R475W; 12:56093493-56093493 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3417G>A; p.L1139L; 12:56101276-56101276 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3765T>A; p.T1255T; 12:56101791-56101791 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3025_3030delCTAGAC; p.D1014_L1015delDL; 12:56099925-56099930 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - In frame |
c.1034C>T; p.S345L; 12:56088793-56088793 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2460G>T; p.K820N; 12:56097230-56097230 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1562G>A; p.R521Q; 12:56093845-56093845 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3647C>T; p.S1216F; 12:56101673-56101673 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.819A>C; p.E273D; 12:56088107-56088107 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3662G>A; p.G1221D; 12:56101688-56101688 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.890A>T; p.D297V; 12:56088558-56088558 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.577C>T; p.R193*; 12:56087606-56087606 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Nonsense |
c.3518G>A; p.R1173Q; 12:56101544-56101544 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1435G>A; p.E479K; 12:56093505-56093505 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1463G>A; p.R488Q; 12:56093533-56093533 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.3910C>G; p.H1304D; 12:56101936-56101936 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1493A>T; p.K498I; 12:56093776-56093776 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.3129+9A>C; p.?; 12:56100038-56100038 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Unknown |
c.2090_2091insA; p.N697fs*17; 12:56096537-56096538 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Insertion - Frameshift |
c.764G>A; p.C255Y; 12:56088052-56088052 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2665A>G; p.T889A; 12:56098548-56098548 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3923C>T; p.A1308V; 12:56101949-56101949 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3308G>A; p.G1103D; 12:56101167-56101167 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3799C>T; p.R1267*; 12:56101825-56101825 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1506A>G; p.P502P; 12:56093789-56093789 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1469G>A; p.R490H; 12:56093539-56093539 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3767C>T; p.P1256L; 12:56101793-56101793 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.264C>T; p.L88L; 12:56085024-56085024 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.128A>G; p.E43G; 12:56083796-56083796 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1631C>T; p.A544V; 12:56094116-56094116 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3793C>T; p.R1265W; 12:56101819-56101819 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.662C>T; p.P221L; 12:56087843-56087843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3425C>A; p.P1142H; 12:56101284-56101284 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3425C>A; p.P1142H; 12:56101284-56101284 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1703C>T; p.S568L; 12:56094188-56094188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>A; p.N126K; 12:56085138-56085138 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>A; p.N126K; 12:56085138-56085138 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.378C>A; p.N126K; 12:56085138-56085138 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.378C>A; p.N126K; 12:56085138-56085138 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2865C>T; p.R955R; 12:56099673-56099673 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.894A>G; p.Q298Q; 12:56088562-56088562 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1423C>T; p.R475W; 12:56093493-56093493 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1423C>T; p.R475W; 12:56093493-56093493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.250A>G; p.T84A; 12:56085010-56085010 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3717G>C; p.Q1239H; 12:56101743-56101743 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.207A>G; p.G69G; 12:56083875-56083875 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.207A>G; p.G69G; 12:56083875-56083875 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1463G>A; p.R488Q; 12:56093533-56093533 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.354C>T; p.F118F; 12:56085114-56085114 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3051A>C; p.A1017A; 12:56099951-56099951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252A>G; p.T84T; 12:56085012-56085012 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2569G>A; p.D857N; 12:56097893-56097893 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2248C>T; p.R750W; 12:56096820-56096820 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.852A>G; p.G284G; 12:56088140-56088140 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.852A>G; p.G284G; 12:56088140-56088140 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2783A>G; p.E928G; 12:56098849-56098849 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2006G>A; p.R669H; 12:56095757-56095757 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3206delC; p.S1069fs*33; 12:56101065-56101065 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2168T>C; p.V723A; 12:56096615-56096615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.781C>T; p.Q261*; 12:56088069-56088069 |
large_intestine; colon | carcinoma | Substitution - Nonsense |
c.2168T>C; p.V723A; 12:56096615-56096615 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.781C>T; p.Q261*; 12:56088069-56088069 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.781C>T; p.Q261*; 12:56088069-56088069 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1806G>C; p.K602N; 12:56094503-56094503 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1166C>A; p.T389K; 12:56092803-56092803 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.773G>A; p.R258H; 12:56088061-56088061 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1469G>A; p.R490H; 12:56093539-56093539 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1009G>A; p.G337R; 12:56088768-56088768 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313T>C; p.V438A; 12:56093383-56093383 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313T>C; p.V438A; 12:56093383-56093383 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1313T>C; p.V438A; 12:56093383-56093383 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2408delG; p.A805fs*95; 12:56097178-56097178 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.310G>A; p.V104M; 12:56085070-56085070 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.132C>G; p.N44K; 12:56083800-56083800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2791G>A; p.A931T; 12:56098857-56098857 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120C>T; p.H374Y; 12:56092757-56092757 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3380G>A; p.R1127H; 12:56101239-56101239 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3087C>A; p.S1029S; 12:56099987-56099987 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1775_1780delGAGTCC; p.G592_L594>V; 12:56094472-56094477 |
large_intestine; colon | carcinoma; adenocarcinoma | Complex - deletion inframe |
c.785C>A; p.P262H; 12:56088073-56088073 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3138C>T; p.S1046S; 12:56100182-56100182 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3342G>A; p.M1114I; 12:56101201-56101201 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2537G>T; p.S846I; 12:56097861-56097861 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2000G>A; p.R667H; 12:56095751-56095751 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2000G>A; p.R667H; 12:56095751-56095751 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2000G>A; p.R667H; 12:56095751-56095751 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2000G>A; p.R667H; 12:56095751-56095751 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3136A>G; p.S1046G; 12:56100180-56100180 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3136A>G; p.S1046G; 12:56100180-56100180 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3136A>G; p.S1046G; 12:56100180-56100180 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2722G>T; p.G908W; 12:56098788-56098788 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3095G>C; p.S1032T; 12:56099995-56099995 |
liver | carcinoma | Substitution - Missense |
c.3645T>C; p.S1215S; 12:56101671-56101671 |
liver | carcinoma | Substitution - coding silent |
c.3293A>T; p.E1098V; 12:56101152-56101152 |
liver | carcinoma | Substitution - Missense |
c.2055+5_2055+6delGT; p.?; 12:56095811-56095812 |
liver | carcinoma | Unknown |
c.368A>G; p.Y123C; 12:56085128-56085128 |
liver | carcinoma | Substitution - Missense |
c.2721C>T; p.F907F; 12:56098787-56098787 |
liver | carcinoma | Substitution - coding silent |
c.2721C>T; p.F907F; 12:56098787-56098787 |
liver | carcinoma | Substitution - coding silent |
c.178A>T; p.M60L; 12:56083846-56083846 |
liver | carcinoma | Substitution - Missense |
c.178A>T; p.M60L; 12:56083846-56083846 |
liver | carcinoma | Substitution - Missense |
c.1398C>G; p.H466Q; 12:56093468-56093468 |
liver | carcinoma | Substitution - Missense |
c.2812A>G; p.I938V; 12:56098878-56098878 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.177G>T; p.V59V; 12:56083845-56083845 |
liver | carcinoma | Substitution - coding silent |
c.177G>T; p.V59V; 12:56083845-56083845 |
liver | carcinoma | Substitution - coding silent |
c.990C>T; p.A330A; 12:56088749-56088749 |
liver | carcinoma | Substitution - coding silent |
c.2033G>A; p.R678K; 12:56095784-56095784 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1924C>G; p.L642V; 12:56095675-56095675 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2928G>A; p.L976L; 12:56099736-56099736 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3358A>G; p.R1120G; 12:56101217-56101217 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1868G>A; p.G623E; 12:56095265-56095265 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1912G>T; p.G638C; 12:56095309-56095309 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2083A>T; p.K695*; 12:56096530-56096530 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.892C>T; p.Q298*; 12:56088560-56088560 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1621C>T; p.R541*; 12:56094106-56094106 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1554G>T; p.L518F; 12:56093837-56093837 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.105C>G; p.G35G; 12:56083773-56083773 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.850G>A; p.G284R; 12:56088138-56088138 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.205G>A; p.G69R; 12:56083873-56083873 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2279T>A; p.M760K; 12:56097049-56097049 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3902A>T; p.Q1301L; 12:56101928-56101928 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.128A>G; p.E43G; 12:56083796-56083796 |
meninges | meningioma | Substitution - Missense |
c.2978A>G; p.H993R; 12:56099878-56099878 |
oesophagus | carcinoma | Substitution - Missense |
c.377A>T; p.N126I; 12:56085137-56085137 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1704G>A; p.S568S; 12:56094189-56094189 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3579A>C; p.E1193D; 12:56101605-56101605 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.179T>A; p.M60K; 12:56083847-56083847 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1783G>C; p.G595R; 12:56094480-56094480 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.695C>T; p.A232V; 12:56087876-56087876 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3655G>A; p.E1219K; 12:56101681-56101681 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1621C>G; p.R541G; 12:56094106-56094106 |
ovary | other; neoplasm | Substitution - Missense |
c.1472G>C; p.R491T; 12:56093542-56093542 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.1769C>T; p.P590L; 12:56094466-56094466 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2224A>G; p.K742E; 12:56096796-56096796 |
ovary | carcinoma | Substitution - Missense |
c.2085G>C; p.K695N; 12:56096532-56096532 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1725A>G; p.Q575Q; 12:56094422-56094422 |
pancreas | carcinoma | Substitution - coding silent |
c.1725A>G; p.Q575Q; 12:56094422-56094422 |
pancreas | carcinoma | Substitution - coding silent |
c.1725A>G; p.Q575Q; 12:56094422-56094422 |
pancreas | carcinoma | Substitution - coding silent |
c.695C>T; p.A232V; 12:56087876-56087876 |
pancreas | carcinoma | Substitution - Missense |
c.1999C>A; p.R667S; 12:56095750-56095750 |
pancreas | carcinoma | Substitution - Missense |
c.3729C>G; p.L1243L; 12:56101755-56101755 |
parathyroid | carcinoma | Substitution - coding silent |
c.3962C>G; p.S1321C; 12:56101988-56101988 |
parathyroid | carcinoma | Substitution - Missense |
c.874C>A; p.H292N; 12:56088162-56088162 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2766C>T; p.D922D; 12:56098832-56098832 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1172G>T; p.R391L; 12:56092809-56092809 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.695C>T; p.A232V; 12:56087876-56087876 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2170C>T; p.H724Y; 12:56096617-56096617 |
skin | malignant_melanoma | Substitution - Missense |
c.2170C>T; p.H724Y; 12:56096617-56096617 |
skin | malignant_melanoma | Substitution - Missense |
c.1748C>T; p.P583L; 12:56094445-56094445 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1564A>T; p.N522Y; 12:56093847-56093847 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.872C>T; p.P291L; 12:56088160-56088160 |
skin | malignant_melanoma | Substitution - Missense |
c.3868G>A; p.E1290K; 12:56101894-56101894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1238_1239CC>TT; p.S413F; 12:56093040-56093041 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1780C>T; p.L594L; 12:56094477-56094477 |
skin | malignant_melanoma | Substitution - coding silent |
c.1423C>T; p.R475W; 12:56093493-56093493 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.712C>T; p.P238S; 12:56087893-56087893 |
skin | malignant_melanoma | Substitution - Missense |
c.3311C>T; p.S1104F; 12:56101170-56101170 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1738C>T; p.R580*; 12:56094435-56094435 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3817G>A; p.G1273R; 12:56101843-56101843 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2383C>T; p.L795L; 12:56097153-56097153 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.325C>T; p.Q109*; 12:56085085-56085085 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2408G>A; p.R803Q; 12:56097178-56097178 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3647C>T; p.S1216F; 12:56101673-56101673 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1239C>T; p.S413S; 12:56093041-56093041 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.875-5C>T; p.?; 12:56088538-56088538 |
skin | malignant_melanoma | Unknown |
c.875-5C>T; p.?; 12:56088538-56088538 |
skin | malignant_melanoma | Unknown |
c.875-5C>T; p.?; 12:56088538-56088538 |
skin | malignant_melanoma | Unknown |
c.2296C>T; p.L766L; 12:56097066-56097066 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2773G>A; p.E925K; 12:56098839-56098839 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1336C>T; p.L446L; 12:56093406-56093406 |
skin | malignant_melanoma | Substitution - coding silent |
c.3533C>T; p.S1178F; 12:56101559-56101559 |
skin | malignant_melanoma | Substitution - Missense |
c.1434G>A; p.T478T; 12:56093504-56093504 |
skin | malignant_melanoma | Substitution - coding silent |
c.511G>A; p.D171N; 12:56086620-56086620 |
skin | malignant_melanoma | Substitution - Missense |
c.511G>A; p.D171N; 12:56086620-56086620 |
skin | malignant_melanoma | Substitution - Missense |
c.2863C>T; p.R955C; 12:56099671-56099671 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3772G>A; p.E1258K; 12:56101798-56101798 |
skin | malignant_melanoma | Substitution - Missense |
c.683A>G; p.H228R; 12:56087864-56087864 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.683A>G; p.H228R; 12:56087864-56087864 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2012T>A; p.I671N; 12:56095763-56095763 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358G>A; p.R453H; 12:56093428-56093428 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3710G>A; p.S1237N; 12:56101736-56101736 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1017C>T; p.R339R; 12:56088776-56088776 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1423C>T; p.R475W; 12:56093493-56093493 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.917C>A; p.P306H; 12:56088585-56088585 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.917C>A; p.P306H; 12:56088585-56088585 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3003G>C; p.E1001D; 12:56099903-56099903 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2802G>C; p.Q934H; 12:56098868-56098868 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.383G>A; p.S128N; 12:56085143-56085143 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.355G>A; p.V119I; 12:56085115-56085115 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.252A>G; p.T84T; 12:56085012-56085012 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252A>G; p.T84T; 12:56085012-56085012 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.252A>G; p.T84T; 12:56085012-56085012 |
stomach | adenocarcinoma | Substitution - coding silent |
c.2783A>G; p.E928G; 12:56098849-56098849 |
stomach | adenocarcinoma | Substitution - Missense |
c.791T>C; p.V264A; 12:56088079-56088079 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2036G>A; p.R679Q; 12:56095787-56095787 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.941A>C; p.K314T; 12:56088609-56088609 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.694G>A; p.A232T; 12:56087875-56087875 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.994G>A; p.E332K; 12:56088753-56088753 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.706T>C; p.S236P; 12:56087887-56087887 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.78G>A; p.Q26Q; 12:56080378-56080378 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1469G>A; p.R490H; 12:56093539-56093539 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3407G>A; p.R1136H; 12:56101266-56101266 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1493A>T; p.K498I; 12:56093776-56093776 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1331G>A; p.R444Q; 12:56093401-56093401 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.204G>A; p.T68T; 12:56083872-56083872 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3652_3654delGAG; p.E1219delE; 12:56101678-56101680 |
stomach | adenocarcinoma | Deletion - In frame |
c.3382G>A; p.G1128R; 12:56101241-56101241 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.850G>A; p.G284R; 12:56088138-56088138 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.3649C>A; p.L1217I; 12:56101675-56101675 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3544C>G; p.L1182V; 12:56101570-56101570 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537G>T; p.G513C; 12:56093820-56093820 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1292T>C; p.L431S; 12:56093362-56093362 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2976C>A; p.P992P; 12:56099876-56099876 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1999C>A; p.R667S; 12:56095750-56095750 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.695C>T; p.A232V; 12:56087876-56087876 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2000G>A; p.R667H; 12:56095751-56095751 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1064C>T; p.T355I; 12:56088823-56088823 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2303A>G; p.H768R; 12:56097073-56097073 |
thyroid | carcinoma | Substitution - Missense |
c.3701C>G; p.S1234C; 12:56101727-56101727 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2036G>A; p.R679Q; 12:56095787-56095787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2036G>A; p.R679Q; 12:56095787-56095787 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.273G>C; p.M91I; 12:56085033-56085033 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1423C>T; p.R475W; 12:56093493-56093493 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.448G>A; p.E150K; 12:56086557-56086557 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.448G>A; p.E150K; 12:56086557-56086557 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1163G>A; p.R388Q; 12:56092800-56092800 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.684T>A; p.H228Q; 12:56087865-56087865 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2025G>C; p.R675S; 12:56095776-56095776 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2025G>C; p.R675S; 12:56095776-56095776 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.501G>C; p.V167V; 12:56086610-56086610 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1009G>C; p.G337R; 12:56088768-56088768 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.994G>A; p.E332K; 12:56088753-56088753 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.994G>A; p.E332K; 12:56088753-56088753 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.994G>A; p.E332K; 12:56088753-56088753 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.994G>A; p.E332K; 12:56088753-56088753 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1744G>T; p.G582W; 12:56094441-56094441 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.706T>C; p.S236P; 12:56087887-56087887 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.310G>A; p.V104M; 12:56085070-56085070 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.273G>A; p.M91I; 12:56085033-56085033 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.310G>T; p.V104L; 12:56085070-56085070 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1269C>G; p.L423L; 12:56093071-56093071 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1269C>G; p.L423L; 12:56093071-56093071 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.2397G>C; p.V799V; 12:56097167-56097167 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.2397G>C; p.V799V; 12:56097167-56097167 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.179T>A; p.M60K; 12:56083847-56083847 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1745G>A; p.G582E; 12:56094442-56094442 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.889G>T; p.D297Y; 12:56088557-56088557 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.826C>T; p.P276S; 12:56088114-56088114 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.403C>T; p.R135C; 12:56085163-56085163 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.403C>T; p.R135C; 12:56085163-56085163 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |