| Gene ID | 6317 |
| Symbol | SERPINB3 |
| Synonymous | HsT1196|SCC|SCCA-1|SCCA-PD|SCCA1|T4-A |
| Full name | serpin peptidase inhibitor, clade B (ovalbumin), member 3 |
| Gene description | protein T4-A|serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3|serpin B3|squamous cell carcinoma antigen 1 |
| Cytoband | 18q21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600517; HGNC:HGNC:10569; Ensembl:ENSG00000057149; HPRD:02745; Vega:OTTHUMG00000060403 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.340C>T; p.L114L; 18:63659410-63659410 |
skin | malignant_melanoma | Substitution - coding silent |
c.335C>T; p.T112M; 18:63659415-63659415 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.117G>A; p.G39G; 18:63661100-63661100 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.956G>A; p.G319E; 18:63655874-63655874 |
skin | malignant_melanoma | Substitution - Missense |
c.627C>T; p.S209S; 18:63656972-63656972 |
skin | malignant_melanoma | Substitution - coding silent |
c.336G>A; p.T112T; 18:63659414-63659414 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.336G>A; p.T112T; 18:63659414-63659414 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.336G>A; p.T112T; 18:63659414-63659414 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.92C>T; p.P31L; 18:63661125-63661125 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.801G>A; p.M267I; 18:63656029-63656029 |
skin | malignant_melanoma | Substitution - Missense |
c.725G>A; p.S242N; 18:63656874-63656874 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.549A>C; p.K183N; 18:63657333-63657333 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.10C>G; p.L4V; 18:63661207-63661207 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1099C>G; p.H367D; 18:63655731-63655731 |
breast | carcinoma | Substitution - Missense |
c.334A>G; p.T112A; 18:63659416-63659416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.218A>G; p.Y73C; 18:63660804-63660804 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.334A>G; p.T112A; 18:63659416-63659416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3G>A; p.M1I; 18:63661214-63661214 |
skin | malignant_melanoma | Substitution - Missense |
c.181C>T; p.Q61*; 18:63660841-63660841 |
skin | malignant_melanoma | Substitution - Nonsense |
c.181C>T; p.Q61*; 18:63660841-63660841 |
skin | malignant_melanoma | Substitution - Nonsense |
c.902_903CC>TT; p.T301I; 18:63655927-63655928 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.703C>T; p.P235S; 18:63656896-63656896 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012G>C; p.E338Q; 18:63655818-63655818 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.465G>T; p.T155T; 18:63658517-63658517 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.814T>C; p.L272L; 18:63656016-63656016 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1113C>A; p.F371L; 18:63655717-63655717 |
bone; pelvis | chondrosarcoma | Substitution - Missense |
c.172C>T; p.H58Y; 18:63660850-63660850 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658C>T; p.H220Y; 18:63656941-63656941 |
skin | malignant_melanoma | Substitution - Missense |
c.340C>A; p.L114I; 18:63659410-63659410 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1107C>T; p.F369F; 18:63655723-63655723 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1107C>T; p.F369F; 18:63655723-63655723 |
skin | malignant_melanoma | Substitution - coding silent |
c.24C>A; p.N8K; 18:63661193-63661193 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.636G>A; p.M212I; 18:63656963-63656963 |
skin | malignant_melanoma | Substitution - Missense |
c.474_475insA; p.I159fs*2; 18:63657407-63657408 |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV | Insertion - Frameshift |
c.954C>T; p.T318T; 18:63655876-63655876 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.61A>T; p.K21*; 18:63661156-63661156 |
skin | malignant_melanoma | Substitution - Nonsense |
c.220C>A; p.H74N; 18:63660802-63660802 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1113C>T; p.F371F; 18:63655717-63655717 |
skin | malignant_melanoma | Substitution - coding silent |
c.33C>A; p.F11L; 18:63661184-63661184 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.432A>G; p.R144R; 18:63658550-63658550 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.970G>A; p.V324M; 18:63655860-63655860 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.753C>T; p.I251I; 18:63656846-63656846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.753C>T; p.I251I; 18:63656846-63656846 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.753C>T; p.I251I; 18:63656846-63656846 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.753C>T; p.I251I; 18:63656846-63656846 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.27C>T; p.T9T; 18:63661190-63661190 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.203G>A; p.G68E; 18:63660819-63660819 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.244C>T; p.H82Y; 18:63659506-63659506 |
skin | malignant_melanoma | Substitution - Missense |
c.949A>T; p.M317L; 18:63655881-63655881 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.352-1G>A; p.?; 18:63658631-63658631 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.352G>A; p.E118K; 18:63658630-63658630 |
skin | malignant_melanoma | Substitution - Missense |
c.236G>A; p.G79E; 18:63659514-63659514 |
skin | malignant_melanoma | Substitution - Missense |
c.977C>T; p.S326F; 18:63655853-63655853 |
skin | malignant_melanoma | Substitution - Missense |
c.215C>T; p.T72I; 18:63660807-63660807 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.72G>A; p.E24E; 18:63661145-63661145 |
skin | malignant_melanoma | Substitution - coding silent |
c.601T>G; p.W201G; 18:63657281-63657281 |
skin | malignant_melanoma | Substitution - Missense |
c.601T>G; p.W201G; 18:63657281-63657281 |
skin | malignant_melanoma | Substitution - Missense |
c.589G>C; p.E197Q; 18:63657293-63657293 |
breast | carcinoma | Substitution - Missense |
c.279C>A; p.N93K; 18:63659471-63659471 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.303G>A; p.L101L; 18:63659447-63659447 |
skin | malignant_melanoma | Substitution - coding silent |
c.26C>A; p.T9N; 18:63661191-63661191 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1012G>A; p.E338K; 18:63655818-63655818 |
skin | malignant_melanoma | Substitution - Missense |
c.878A>G; p.Y293C; 18:63655952-63655952 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.475A>T; p.I159F; 18:63657407-63657407 |
skin | malignant_melanoma | Substitution - Missense |
c.324C>T; p.F108F; 18:63659426-63659426 |
liver | carcinoma | Substitution - coding silent |
c.324C>T; p.F108F; 18:63659426-63659426 |
liver | carcinoma | Substitution - coding silent |
c.1149C>T; p.F383F; 18:63655681-63655681 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.889G>A; p.D297N; 18:63655941-63655941 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.889G>A; p.D297N; 18:63655941-63655941 |
skin | malignant_melanoma | Substitution - Missense |
c.889G>A; p.D297N; 18:63655941-63655941 |
skin | malignant_melanoma | Substitution - Missense |
c.1088T>C; p.F363S; 18:63655742-63655742 |
liver | carcinoma | Substitution - Missense |
c.889G>A; p.D297N; 18:63655941-63655941 |
skin | malignant_melanoma | Substitution - Missense |
c.1088T>C; p.F363S; 18:63655742-63655742 |
liver | carcinoma | Substitution - Missense |
c.465G>A; p.T155T; 18:63658517-63658517 |
skin | malignant_melanoma | Substitution - coding silent |
c.465G>A; p.T155T; 18:63658517-63658517 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.888G>T; p.K296N; 18:63655942-63655942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.42C>T; p.D14D; 18:63661175-63661175 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.386C>G; p.T129S; 18:63658596-63658596 |
breast | carcinoma | Substitution - Missense |
c.1018G>A; p.G340R; 18:63655812-63655812 |
skin | malignant_melanoma | Substitution - Missense |
c.1090C>G; p.H364D; 18:63655740-63655740 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1069A>G; p.T357A; 18:63655761-63655761 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1069A>G; p.T357A; 18:63655761-63655761 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.351+5_351+6insA; p.?; 18:63659393-63659394 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.553C>T; p.Q185*; 18:63657329-63657329 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.421G>A; p.E141K; 18:63658561-63658561 |
skin | malignant_melanoma | Substitution - Missense |
c.325G>A; p.G109R; 18:63659425-63659425 |
central_nervous_system; midbrain | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.811A>C; p.S271R; 18:63656019-63656019 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.262C>A; p.L88I; 18:63659488-63659488 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.940C>G; p.L314V; 18:63655890-63655890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1161C>A; p.F387L; 18:63655669-63655669 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153G>T; p.G385C; 18:63655677-63655677 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.309C>T; p.I103I; 18:63659441-63659441 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.490C>T; p.P164S; 18:63657392-63657392 |
skin | malignant_melanoma | Substitution - Missense |
c.490C>T; p.P164S; 18:63657392-63657392 |
skin | malignant_melanoma | Substitution - Missense |
c.490C>T; p.P164S; 18:63657392-63657392 |
skin | malignant_melanoma | Substitution - Missense |
c.768+1G>A; p.?; 18:63656830-63656830 |
skin | malignant_melanoma | Unknown |
c.729G>A; p.M243I; 18:63656870-63656870 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.4A>G; p.N2D; 18:63661213-63661213 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.348A>G; p.L116L; 18:63659402-63659402 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.285C>T; p.S95S; 18:63659465-63659465 |
skin | malignant_melanoma | Substitution - coding silent |
c.697G>A; p.E233K; 18:63656902-63656902 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.278A>G; p.N93S; 18:63659472-63659472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.883C>A; p.L295I; 18:63655947-63655947 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.482A>G; p.N161S; 18:63657400-63657400 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.760C>T; p.L254F; 18:63656839-63656839 |
skin | malignant_melanoma | Substitution - Missense |
c.748G>A; p.E250K; 18:63656851-63656851 |
skin | malignant_melanoma | Substitution - Missense |
c.253T>A; p.F85I; 18:63659497-63659497 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.748G>A; p.E250K; 18:63656851-63656851 |
skin | malignant_melanoma | Substitution - Missense |
c.1050delA; p.G351fs*23; 18:63655780-63655780 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.144C>A; p.N48K; 18:63661073-63661073 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.431G>A; p.R144Q; 18:63658551-63658551 |
breast | carcinoma | Substitution - Missense |
c.1041C>T; p.T347T; 18:63655789-63655789 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.431G>A; p.R144Q; 18:63658551-63658551 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.190G>A; p.E64K; 18:63660832-63660832 |
skin | malignant_melanoma | Substitution - Missense |
c.952A>G; p.T318A; 18:63655878-63655878 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1053_1054insTGGC; p.F352fs*10; 18:63655776-63655777 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.695_706del12; p.L232_Y236>H; 18:63656893-63656904 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Complex - deletion inframe |
c.857G>C; p.R286P; 18:63655973-63655973 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.109G>A; p.A37T; 18:63661108-63661108 |
skin | malignant_melanoma | Substitution - Missense |
c.318G>A; p.K106K; 18:63659432-63659432 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1040C>T; p.T347I; 18:63655790-63655790 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.626C>A; p.S209Y; 18:63656973-63656973 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.893C>T; p.T298M; 18:63655937-63655937 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.613-1G>T; p.?; 18:63656987-63656987 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.563A>C; p.K188T; 18:63657319-63657319 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.428G>C; p.S143T; 18:63658554-63658554 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.79A>T; p.I27F; 18:63661138-63661138 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1168C>T; p.P390S; 18:63655662-63655662 |
skin | malignant_melanoma | Substitution - Missense |
c.828A>T; p.R276S; 18:63656002-63656002 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.819G>A; p.Q273Q; 18:63656011-63656011 |
skin | malignant_melanoma | Substitution - coding silent |
c.806_807GG>AA; p.W269*; 18:63656023-63656024 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.326G>T; p.G109V; 18:63659424-63659424 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.165G>A; p.K55K; 18:63661052-63661052 |
liver | carcinoma | Substitution - coding silent |
c.165G>A; p.K55K; 18:63661052-63661052 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1136A>C; p.N379T; 18:63655694-63655694 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1136A>C; p.N379T; 18:63655694-63655694 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.881A>C; p.D294A; 18:63655949-63655949 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.430C>T; p.R144*; 18:63658552-63658552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.430C>T; p.R144*; 18:63658552-63658552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.131G>T; p.G44V; 18:63661086-63661086 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091A>G; p.H364R; 18:63655739-63655739 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.592G>A; p.E198K; 18:63657290-63657290 |
skin | malignant_melanoma | Substitution - Missense |
c.600T>G; p.F200L; 18:63657282-63657282 |
skin | malignant_melanoma | Substitution - Missense |
c.592G>A; p.E198K; 18:63657290-63657290 |
skin | malignant_melanoma | Substitution - Missense |
c.800T>G; p.M267R; 18:63656030-63656030 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.963C>T; p.R321R; 18:63655867-63655867 |
pancreas | carcinoma | Substitution - coding silent |
c.871G>A; p.E291K; 18:63655959-63655959 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.871G>A; p.E291K; 18:63655959-63655959 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.841G>A; p.D281N; 18:63655989-63655989 |
skin | malignant_melanoma | Substitution - Missense |
c.841G>A; p.D281N; 18:63655989-63655989 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.841G>A; p.D281N; 18:63655989-63655989 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.836G>A; p.R279H; 18:63655994-63655994 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.133G>A; p.A45T; 18:63661084-63661084 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.102C>T; p.I34I; 18:63661115-63661115 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1061C>A; p.S354*; 18:63655769-63655769 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.328G>A; p.E110K; 18:63659422-63659422 |
skin | malignant_melanoma | Substitution - Missense |
c.30G>T; p.K10N; 18:63661187-63661187 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1159T>C; p.F387L; 18:63655671-63655671 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.170T>C; p.L57P; 18:63660852-63660852 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.908G>A; p.G303E; 18:63655922-63655922 |
skin | malignant_melanoma | Substitution - Missense |
c.129A>T; p.L43F; 18:63661088-63661088 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.102C>A; p.I34I; 18:63661115-63661115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.989A>G; p.H330R; 18:63655841-63655841 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.502A>G; p.I168V; 18:63657380-63657380 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.962G>A; p.R321H; 18:63655868-63655868 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.298G>A; p.E100K; 18:63659452-63659452 |
skin | malignant_melanoma | Substitution - Missense |
c.502A>G; p.I168V; 18:63657380-63657380 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1094G>A; p.C365Y; 18:63655736-63655736 |
skin | malignant_melanoma | Substitution - Missense |
c.286A>G; p.T96A; 18:63659464-63659464 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.979G>T; p.G327*; 18:63655851-63655851 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.711A>T; p.K237N; 18:63656888-63656888 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1089C>G; p.F363L; 18:63655741-63655741 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |