Cancer metastasis database

Annotation category 5

Gene information

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

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.340C>T; p.L114L; 18:63659410-63659410

skinmalignant_melanomaSubstitution - coding silent

c.335C>T; p.T112M; 18:63659415-63659415

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.117G>A; p.G39G; 18:63661100-63661100

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.956G>A; p.G319E; 18:63655874-63655874

skinmalignant_melanomaSubstitution - Missense

c.627C>T; p.S209S; 18:63656972-63656972

skinmalignant_melanomaSubstitution - coding silent

c.336G>A; p.T112T; 18:63659414-63659414

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.336G>A; p.T112T; 18:63659414-63659414

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.336G>A; p.T112T; 18:63659414-63659414

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.92C>T; p.P31L; 18:63661125-63661125

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.801G>A; p.M267I; 18:63656029-63656029

skinmalignant_melanomaSubstitution - Missense

c.725G>A; p.S242N; 18:63656874-63656874

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.549A>C; p.K183N; 18:63657333-63657333

large_intestine; coloncarcinomaSubstitution - Missense

c.10C>G; p.L4V; 18:63661207-63661207

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1099C>G; p.H367D; 18:63655731-63655731

breastcarcinomaSubstitution - Missense

c.334A>G; p.T112A; 18:63659416-63659416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.218A>G; p.Y73C; 18:63660804-63660804

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.334A>G; p.T112A; 18:63659416-63659416

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 18:63661214-63661214

skinmalignant_melanomaSubstitution - Missense

c.181C>T; p.Q61*; 18:63660841-63660841

skinmalignant_melanomaSubstitution - Nonsense

c.181C>T; p.Q61*; 18:63660841-63660841

skinmalignant_melanomaSubstitution - Nonsense

c.902_903CC>TT; p.T301I; 18:63655927-63655928

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.703C>T; p.P235S; 18:63656896-63656896

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1012G>C; p.E338Q; 18:63655818-63655818

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.465G>T; p.T155T; 18:63658517-63658517

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.814T>C; p.L272L; 18:63656016-63656016

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1113C>A; p.F371L; 18:63655717-63655717

bone; pelvischondrosarcomaSubstitution - Missense

c.172C>T; p.H58Y; 18:63660850-63660850

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.658C>T; p.H220Y; 18:63656941-63656941

skinmalignant_melanomaSubstitution - Missense

c.340C>A; p.L114I; 18:63659410-63659410

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1107C>T; p.F369F; 18:63655723-63655723

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1107C>T; p.F369F; 18:63655723-63655723

skinmalignant_melanomaSubstitution - coding silent

c.24C>A; p.N8K; 18:63661193-63661193

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.636G>A; p.M212I; 18:63656963-63656963

skinmalignant_melanomaSubstitution - Missense

c.474_475insA; p.I159fs*2; 18:63657407-63657408

central_nervous_system; posterior_fossaglioma; astrocytoma_Grade_IVInsertion - Frameshift

c.954C>T; p.T318T; 18:63655876-63655876

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.61A>T; p.K21*; 18:63661156-63661156

skinmalignant_melanomaSubstitution - Nonsense

c.220C>A; p.H74N; 18:63660802-63660802

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1113C>T; p.F371F; 18:63655717-63655717

skinmalignant_melanomaSubstitution - coding silent

c.33C>A; p.F11L; 18:63661184-63661184

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.432A>G; p.R144R; 18:63658550-63658550

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.970G>A; p.V324M; 18:63655860-63655860

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.753C>T; p.I251I; 18:63656846-63656846

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.753C>T; p.I251I; 18:63656846-63656846

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.753C>T; p.I251I; 18:63656846-63656846

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.753C>T; p.I251I; 18:63656846-63656846

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.27C>T; p.T9T; 18:63661190-63661190

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.203G>A; p.G68E; 18:63660819-63660819

skin; trunkmalignant_melanomaSubstitution - Missense

c.244C>T; p.H82Y; 18:63659506-63659506

skinmalignant_melanomaSubstitution - Missense

c.949A>T; p.M317L; 18:63655881-63655881

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.352-1G>A; p.?; 18:63658631-63658631

skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.352G>A; p.E118K; 18:63658630-63658630

skinmalignant_melanomaSubstitution - Missense

c.236G>A; p.G79E; 18:63659514-63659514

skinmalignant_melanomaSubstitution - Missense

c.977C>T; p.S326F; 18:63655853-63655853

skinmalignant_melanomaSubstitution - Missense

c.215C>T; p.T72I; 18:63660807-63660807

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.72G>A; p.E24E; 18:63661145-63661145

skinmalignant_melanomaSubstitution - coding silent

c.601T>G; p.W201G; 18:63657281-63657281

skinmalignant_melanomaSubstitution - Missense

c.601T>G; p.W201G; 18:63657281-63657281

skinmalignant_melanomaSubstitution - Missense

c.589G>C; p.E197Q; 18:63657293-63657293

breastcarcinomaSubstitution - Missense

c.279C>A; p.N93K; 18:63659471-63659471

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.303G>A; p.L101L; 18:63659447-63659447

skinmalignant_melanomaSubstitution - coding silent

c.26C>A; p.T9N; 18:63661191-63661191

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1012G>A; p.E338K; 18:63655818-63655818

skinmalignant_melanomaSubstitution - Missense

c.878A>G; p.Y293C; 18:63655952-63655952

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.475A>T; p.I159F; 18:63657407-63657407

skinmalignant_melanomaSubstitution - Missense

c.324C>T; p.F108F; 18:63659426-63659426

livercarcinomaSubstitution - coding silent

c.324C>T; p.F108F; 18:63659426-63659426

livercarcinomaSubstitution - coding silent

c.1149C>T; p.F383F; 18:63655681-63655681

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.889G>A; p.D297N; 18:63655941-63655941

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.889G>A; p.D297N; 18:63655941-63655941

skinmalignant_melanomaSubstitution - Missense

c.889G>A; p.D297N; 18:63655941-63655941

skinmalignant_melanomaSubstitution - Missense

c.1088T>C; p.F363S; 18:63655742-63655742

livercarcinomaSubstitution - Missense

c.889G>A; p.D297N; 18:63655941-63655941

skinmalignant_melanomaSubstitution - Missense

c.1088T>C; p.F363S; 18:63655742-63655742

livercarcinomaSubstitution - Missense

c.465G>A; p.T155T; 18:63658517-63658517

skinmalignant_melanomaSubstitution - coding silent

c.465G>A; p.T155T; 18:63658517-63658517

skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.888G>T; p.K296N; 18:63655942-63655942

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.42C>T; p.D14D; 18:63661175-63661175

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.386C>G; p.T129S; 18:63658596-63658596

breastcarcinomaSubstitution - Missense

c.1018G>A; p.G340R; 18:63655812-63655812

skinmalignant_melanomaSubstitution - Missense

c.1090C>G; p.H364D; 18:63655740-63655740

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1069A>G; p.T357A; 18:63655761-63655761

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1069A>G; p.T357A; 18:63655761-63655761

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.351+5_351+6insA; p.?; 18:63659393-63659394

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.553C>T; p.Q185*; 18:63657329-63657329

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.421G>A; p.E141K; 18:63658561-63658561

skinmalignant_melanomaSubstitution - Missense

c.325G>A; p.G109R; 18:63659425-63659425

central_nervous_system; midbrainglioma; oligoastrocytoma_Grade_IIISubstitution - Missense

c.811A>C; p.S271R; 18:63656019-63656019

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.262C>A; p.L88I; 18:63659488-63659488

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.940C>G; p.L314V; 18:63655890-63655890

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1161C>A; p.F387L; 18:63655669-63655669

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153G>T; p.G385C; 18:63655677-63655677

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.309C>T; p.I103I; 18:63659441-63659441

central_nervous_system; braingliomaSubstitution - coding silent

c.490C>T; p.P164S; 18:63657392-63657392

skinmalignant_melanomaSubstitution - Missense

c.490C>T; p.P164S; 18:63657392-63657392

skinmalignant_melanomaSubstitution - Missense

c.490C>T; p.P164S; 18:63657392-63657392

skinmalignant_melanomaSubstitution - Missense

c.768+1G>A; p.?; 18:63656830-63656830

skinmalignant_melanomaUnknown

c.729G>A; p.M243I; 18:63656870-63656870

skin; armmalignant_melanomaSubstitution - Missense

c.4A>G; p.N2D; 18:63661213-63661213

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.348A>G; p.L116L; 18:63659402-63659402

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.285C>T; p.S95S; 18:63659465-63659465

skinmalignant_melanomaSubstitution - coding silent

c.697G>A; p.E233K; 18:63656902-63656902

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.278A>G; p.N93S; 18:63659472-63659472

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.883C>A; p.L295I; 18:63655947-63655947

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.482A>G; p.N161S; 18:63657400-63657400

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.760C>T; p.L254F; 18:63656839-63656839

skinmalignant_melanomaSubstitution - Missense

c.748G>A; p.E250K; 18:63656851-63656851

skinmalignant_melanomaSubstitution - Missense

c.253T>A; p.F85I; 18:63659497-63659497

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.748G>A; p.E250K; 18:63656851-63656851

skinmalignant_melanomaSubstitution - Missense

c.1050delA; p.G351fs*23; 18:63655780-63655780

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.144C>A; p.N48K; 18:63661073-63661073

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.431G>A; p.R144Q; 18:63658551-63658551

breastcarcinomaSubstitution - Missense

c.1041C>T; p.T347T; 18:63655789-63655789

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.431G>A; p.R144Q; 18:63658551-63658551

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.190G>A; p.E64K; 18:63660832-63660832

skinmalignant_melanomaSubstitution - Missense

c.952A>G; p.T318A; 18:63655878-63655878

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1053_1054insTGGC; p.F352fs*10; 18:63655776-63655777

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaInsertion - Frameshift

c.695_706del12; p.L232_Y236>H; 18:63656893-63656904

central_nervous_system; brainglioma; astrocytoma_Grade_IVComplex - deletion inframe

c.857G>C; p.R286P; 18:63655973-63655973

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.109G>A; p.A37T; 18:63661108-63661108

skinmalignant_melanomaSubstitution - Missense

c.318G>A; p.K106K; 18:63659432-63659432

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1040C>T; p.T347I; 18:63655790-63655790

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.626C>A; p.S209Y; 18:63656973-63656973

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.893C>T; p.T298M; 18:63655937-63655937

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.613-1G>T; p.?; 18:63656987-63656987

ovarycarcinoma; serous_carcinomaUnknown

c.563A>C; p.K188T; 18:63657319-63657319

skin; acralmalignant_melanomaSubstitution - Missense

c.428G>C; p.S143T; 18:63658554-63658554

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.79A>T; p.I27F; 18:63661138-63661138

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1168C>T; p.P390S; 18:63655662-63655662

skinmalignant_melanomaSubstitution - Missense

c.828A>T; p.R276S; 18:63656002-63656002

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.819G>A; p.Q273Q; 18:63656011-63656011

skinmalignant_melanomaSubstitution - coding silent

c.806_807GG>AA; p.W269*; 18:63656023-63656024

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.326G>T; p.G109V; 18:63659424-63659424

upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.165G>A; p.K55K; 18:63661052-63661052

livercarcinomaSubstitution - coding silent

c.165G>A; p.K55K; 18:63661052-63661052

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.1136A>C; p.N379T; 18:63655694-63655694

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1136A>C; p.N379T; 18:63655694-63655694

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.881A>C; p.D294A; 18:63655949-63655949

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.430C>T; p.R144*; 18:63658552-63658552

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.430C>T; p.R144*; 18:63658552-63658552

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.131G>T; p.G44V; 18:63661086-63661086

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1091A>G; p.H364R; 18:63655739-63655739

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.592G>A; p.E198K; 18:63657290-63657290

skinmalignant_melanomaSubstitution - Missense

c.600T>G; p.F200L; 18:63657282-63657282

skinmalignant_melanomaSubstitution - Missense

c.592G>A; p.E198K; 18:63657290-63657290

skinmalignant_melanomaSubstitution - Missense

c.800T>G; p.M267R; 18:63656030-63656030

central_nervous_system; braingliomaSubstitution - Missense

c.963C>T; p.R321R; 18:63655867-63655867

pancreascarcinomaSubstitution - coding silent

c.871G>A; p.E291K; 18:63655959-63655959

urinary_tract; bladdercarcinomaSubstitution - Missense

c.871G>A; p.E291K; 18:63655959-63655959

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.841G>A; p.D281N; 18:63655989-63655989

skinmalignant_melanomaSubstitution - Missense

c.841G>A; p.D281N; 18:63655989-63655989

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.841G>A; p.D281N; 18:63655989-63655989

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.836G>A; p.R279H; 18:63655994-63655994

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.133G>A; p.A45T; 18:63661084-63661084

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.102C>T; p.I34I; 18:63661115-63661115

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1061C>A; p.S354*; 18:63655769-63655769

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.328G>A; p.E110K; 18:63659422-63659422

skinmalignant_melanomaSubstitution - Missense

c.30G>T; p.K10N; 18:63661187-63661187

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1159T>C; p.F387L; 18:63655671-63655671

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.170T>C; p.L57P; 18:63660852-63660852

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.908G>A; p.G303E; 18:63655922-63655922

skinmalignant_melanomaSubstitution - Missense

c.129A>T; p.L43F; 18:63661088-63661088

urinary_tract; bladdercarcinomaSubstitution - Missense

c.102C>A; p.I34I; 18:63661115-63661115

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.989A>G; p.H330R; 18:63655841-63655841

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.502A>G; p.I168V; 18:63657380-63657380

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.962G>A; p.R321H; 18:63655868-63655868

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.298G>A; p.E100K; 18:63659452-63659452

skinmalignant_melanomaSubstitution - Missense

c.502A>G; p.I168V; 18:63657380-63657380

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1094G>A; p.C365Y; 18:63655736-63655736

skinmalignant_melanomaSubstitution - Missense

c.286A>G; p.T96A; 18:63659464-63659464

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.979G>T; p.G327*; 18:63655851-63655851

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.711A>T; p.K237N; 18:63656888-63656888

skin; mucosalmalignant_melanomaSubstitution - Missense

c.1089C>G; p.F363L; 18:63655741-63655741

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense