Epithelial-Mesenchymal Transition gene database (dbEMT) Home
dbEMT
dbEMT 2.0
General information | Literature | Expression | lncRNA |Regulation | Mutation | Homolog | Interaction

Basic Information

Gene ID

7048

Name

TGFBR2

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1275G>T; p.M425I; 3:30674125-30674125

urinary_tract; bladdercarcinomaSubstitution - Missense

c.951delG; p.K319fs*5; 3:30672134-30672134

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1325T>C; p.F442S; 3:30674175-30674175

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.852T>A; p.Y284*; 3:30672035-30672035

pancreascarcinomaSubstitution - Nonsense

c.852T>A; p.Y284*; 3:30672035-30672035

pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.1562G>A; p.W521*; 3:30691457-30691457

pancreasNSSubstitution - Nonsense

c.167T>C; p.V56A; 3:30644819-30644819

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.786G>C; p.K262N; 3:30671969-30671969

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.374_375delAA; p.K128fs*3; 3:30650380-30650381

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374_375delAA; p.K128fs*3; 3:30650380-30650381

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374_375delAA; p.K128fs*3; 3:30650380-30650381

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1042C>T; p.R348C; 3:30672225-30672225

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1571A>G; p.D524G; 3:30691466-30691466

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1208G>A; p.R403H; 3:30672391-30672391

skinmalignant_melanomaSubstitution - Missense

c.374_375delAA; p.K128fs*3; 3:30650380-30650381

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374_375delAA; p.K128fs*3; 3:30650380-30650381

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374_375delAA; p.K128fs*3; 3:30650380-30650381

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.954G>A; p.G318G; 3:30672137-30672137

skinmalignant_melanomaSubstitution - coding silent

c.916C>T; p.Q306*; 3:30672099-30672099

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1554T>C; p.T518T; 3:30691449-30691449

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1282G>A; p.E428K; 3:30674132-30674132

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1066_1067insC; p.R356fs*9; 3:30672249-30672250

pancreasNSInsertion - Frameshift

c.1355T>C; p.L452P; 3:30674205-30674205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1355T>C; p.L452P; 3:30674205-30674205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1355T>C; p.L452P; 3:30674205-30674205

large_intestine; coloncarcinomaSubstitution - Missense

c.1355T>C; p.L452P; 3:30674205-30674205

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.314A>T; p.K105M; 3:30650320-30650320

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1321T>C; p.S441P; 3:30674171-30674171

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.455-4T>A; p.?; 3:30671634-30671634

stomachcarcinoma; adenocarcinomaUnknown

c.1171C>T; p.L391L; 3:30672354-30672354

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.726G>A; p.L242L; 3:30671909-30671909

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.927G>T; p.T309T; 3:30672110-30672110

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.868G>A; p.E290K; 3:30672051-30672051

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.868G>A; p.E290K; 3:30672051-30672051

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1582C>T; p.R528C; 3:30691477-30691477

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>T; p.R528C; 3:30691477-30691477

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>T; p.R528C; 3:30691477-30691477

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1582C>T; p.R528C; 3:30691477-30691477

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.382_383delAA; p.K128fs*3; 3:30650388-30650389

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.382_383delAA; p.K128fs*3; 3:30650388-30650389

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1593C>A; p.A531A; 3:30691488-30691488

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1277C>T; p.A426V; 3:30674127-30674127

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1361T>C; p.L454P; 3:30674211-30674211

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1361T>C; p.L454P; 3:30674211-30674211

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.636C>T; p.F212F; 3:30671819-30671819

skinmalignant_melanomaSubstitution - coding silent

c.373_384ins?; p.?; 3:30650379-30650390

skin; legmalignant_melanoma; superficial_spreadingUnknown

c.1234G>C; p.D412H; 3:30672417-30672417

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1552A>T; p.T518S; 3:30691447-30691447

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1343A>G; p.Y448C; 3:30674193-30674193

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1364G>C; p.W455S; 3:30674214-30674214

pancreascarcinomaSubstitution - Missense

c.1364G>C; p.W455S; 3:30674214-30674214

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1484G>C; p.R495P; 3:30688471-30688471

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1450_1460del11; p.V484fs*28; 3:30688437-30688447

pancreasNSDeletion - Frameshift

c.1408T>G; p.Y470D; 3:30688395-30688395

pancreascarcinomaSubstitution - Missense

c.1434G>A; p.V478V; 3:30688421-30688421

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1143G>C; p.K381N; 3:30672326-30672326

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.982C>T; p.H328Y; 3:30672165-30672165

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.982C>T; p.H328Y; 3:30672165-30672165

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.982C>T; p.H328Y; 3:30672165-30672165

skinmalignant_melanomaSubstitution - Missense

c.1337A>T; p.D446V; 3:30674187-30674187

pancreascarcinomaSubstitution - Missense

c.1337A>T; p.D446V; 3:30674187-30674187

pancreascarcinomaSubstitution - Missense

c.1337A>T; p.D446V; 3:30674187-30674187

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1193T>C; p.F398S; 3:30672376-30672376

pancreascarcinomaSubstitution - Missense

c.219C>T; p.I73I; 3:30644871-30644871

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.829A>G; p.K277E; 3:30672012-30672012

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.219C>T; p.I73I; 3:30644871-30644871

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1269_1271delATA; p.R423_Y424>S; 3:30674119-30674121

stomachcarcinoma; diffuse_adenocarcinomaComplex - deletion inframe

c.696_698delCAA; p.N234delN; 3:30671879-30671881

large_intestine; coloncarcinoma; adenocarcinomaDeletion - In frame

c.1561T>C; p.W521R; 3:30691456-30691456

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.219C>T; p.I73I; 3:30644871-30644871

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1469A>G; p.N490S; 3:30688456-30688456

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1469A>G; p.N490S; 3:30688456-30688456

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1469A>G; p.N490S; 3:30688456-30688456

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1609C>T; p.R537C; 3:30691504-30691504

pancreasNSSubstitution - Missense

c.277G>A; p.E93K; 3:30650283-30650283

oesophaguscarcinomaSubstitution - Missense

c.1067G>A; p.R356Q; 3:30672250-30672250

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.102C>T; p.N34N; 3:30644754-30644754

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.620G>A; p.R207Q; 3:30671803-30671803

skinmalignant_melanomaSubstitution - Missense

c.529G>T; p.G177*; 3:30671712-30671712

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.670C>T; p.R224C; 3:30671853-30671853

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1178G>T; p.C393F; 3:30672361-30672361

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.1178G>T; p.C393F; 3:30672361-30672361

pancreasNSSubstitution - Missense

c.181T>C; p.C61R; 3:30644833-30644833

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.181T>C; p.C61R; 3:30644833-30644833

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1379G>T; p.R460L; 3:30674229-30674229

pancreascarcinomaSubstitution - Missense

c.1373C>A; p.T458K; 3:30674223-30674223

stomachcarcinomaSubstitution - Missense

c.984C>T; p.H328H; 3:30672167-30672167

breastcarcinomaSubstitution - coding silent

c.1436G>A; p.R479Q; 3:30688423-30688423

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1133G>T; p.R378M; 3:30672316-30672316

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.640G>T; p.E214*; 3:30671823-30671823

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.831G>T; p.K277N; 3:30672014-30672014

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.57T>C; p.R19R; 3:30606940-30606940

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1336G>A; p.D446N; 3:30674186-30674186

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

pancreascarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1435C>T; p.R479W; 3:30688422-30688422

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1435C>T; p.R479W; 3:30688422-30688422

central_nervous_system; braingliomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

pancreascarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1336G>A; p.D446N; 3:30674186-30674186

pancreascarcinomaSubstitution - Missense

c.374_375insA; p.P129fs*3; 3:30650380-30650381

stomachcarcinoma; intestinal_adenocarcinomaInsertion - Frameshift

c.374_375insA; p.P129fs*3; 3:30650380-30650381

oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.374_375insA; p.P129fs*3; 3:30650380-30650381

stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.786G>A; p.K262K; 3:30671969-30671969

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.789G>A; p.L263L; 3:30671972-30671972

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.884C>G; p.S295*; 3:30672067-30672067

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1453G>A; p.E485K; 3:30688440-30688440

breastcarcinomaSubstitution - Missense

c.715A>G; p.T239A; 3:30671898-30671898

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.182G>A; p.C61Y; 3:30644834-30644834

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.283A>T; p.I95L; 3:30650289-30650289

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.915C>T; p.L305L; 3:30672098-30672098

lung; middle_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1483C>T; p.R495*; 3:30688470-30688470

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1483C>T; p.R495*; 3:30688470-30688470

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1483C>T; p.R495*; 3:30688470-30688470

pancreascarcinomaSubstitution - Nonsense

c.1483C>T; p.R495*; 3:30688470-30688470

pancreascarcinomaSubstitution - Nonsense

c.1483C>T; p.R495*; 3:30688470-30688470

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1483C>T; p.R495*; 3:30688470-30688470

pancreascarcinoma; ductal_carcinomaSubstitution - Nonsense

c.1483C>T; p.R495*; 3:30688470-30688470

pancreascarcinomaSubstitution - Nonsense

c.1685C>T; p.S562F; 3:30691580-30691580

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1483C>T; p.R495*; 3:30688470-30688470

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1194T>C; p.F398F; 3:30672377-30672377

pancreascarcinomaSubstitution - coding silent

c.189C>T; p.N63N; 3:30644841-30644841

skinmalignant_melanomaSubstitution - coding silent

c.189C>T; p.N63N; 3:30644841-30644841

skinmalignant_melanomaSubstitution - coding silent

c.1202C>T; p.S401F; 3:30672385-30672385

skinmalignant_melanomaSubstitution - Missense

c.1569C>T; p.H523H; 3:30691464-30691464

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - coding silent

c.183T>C; p.C61C; 3:30644835-30644835

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.183T>C; p.C61C; 3:30644835-30644835

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.771G>C; p.E257D; 3:30671954-30671954

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.217A>G; p.I73V; 3:30644869-30644869

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1573C>T; p.P525S; 3:30691468-30691468

skinmalignant_melanomaSubstitution - Missense

c.1481delA; p.D494fs*24; 3:30688468-30688468

pancreasNSDeletion - Frameshift

c.502A>G; p.T168A; 3:30671685-30671685

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1563G>A; p.W521*; 3:30691458-30691458

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.428G>A; p.C143Y; 3:30650434-30650434

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.377A>C; p.K126T; 3:30650383-30650383

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1563G>A; p.W521*; 3:30691458-30691458

breastcarcinomaSubstitution - Nonsense

c.1082T>A; p.L361H; 3:30672265-30672265

peritoneum; appendixother; pseudomyxoma_peritoneiSubstitution - Missense

c.1554T>A; p.T518T; 3:30691449-30691449

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1554T>A; p.T518T; 3:30691449-30691449

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1484G>A; p.R495Q; 3:30688471-30688471

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.743C>T; p.T248I; 3:30671926-30671926

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1614C>T; p.F538F; 3:30691509-30691509

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1610G>A; p.R537H; 3:30691505-30691505

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1444C>A; p.P482T; 3:30688431-30688431

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1121C>A; p.P374H; 3:30672304-30672304

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1583G>A; p.R528H; 3:30691478-30691478

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1540T>C; p.C514R; 3:30691435-30691435

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.717A>G; p.T239T; 3:30671900-30671900

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1583G>A; p.R528H; 3:30691478-30691478

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1583G>A; p.R528H; 3:30691478-30691478

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1583G>A; p.R528H; 3:30691478-30691478

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.665A>G; p.D222G; 3:30671848-30671848

thyroidcarcinomaSubstitution - Missense

c.1583G>A; p.R528H; 3:30691478-30691478

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1583G>A; p.R528H; 3:30691478-30691478

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.315G>A; p.K105K; 3:30650321-30650321

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1043G>A; p.R348H; 3:30672226-30672226

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1049T>C; p.L350P; 3:30672232-30672232

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1247_1248insG; p.S416fs*25; 3:30672430-30672431

pancreasNSInsertion - Frameshift

c.1066C>T; p.R356W; 3:30672249-30672249

skinmalignant_melanomaSubstitution - Missense

c.551T>A; p.I184N; 3:30671734-30671734

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1058C>T; p.S353F; 3:30672241-30672241

pancreascarcinomaSubstitution - Missense

c.1402A>C; p.K468Q; 3:30688389-30688389

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.927G>A; p.T309T; 3:30672110-30672110

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1404A>G; p.K468K; 3:30688391-30688391

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.775T>G; p.Y259D; 3:30671958-30671958

pancreascarcinomaSubstitution - Missense

c.285A>G; p.I95M; 3:30650291-30650291

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.761G>A; p.R254H; 3:30671944-30671944

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1468A>G; p.N490D; 3:30688455-30688455

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1211T>G; p.L404R; 3:30672394-30672394

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.784A>G; p.K262E; 3:30671967-30671967

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.373_374insA; p.P129fs*3; 3:30650379-30650380

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.373_374insA; p.P129fs*3; 3:30650379-30650380

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.373_374insA; p.P129fs*3; 3:30650379-30650380

pancreascarcinoma; ductal_carcinomaInsertion - Frameshift

c.373_374insA; p.P129fs*3; 3:30650379-30650380

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.1489C>T; p.R497*; 3:30688476-30688476

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1489C>T; p.R497*; 3:30688476-30688476

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1489C>T; p.R497*; 3:30688476-30688476

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1438G>T; p.E480*; 3:30688425-30688425

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.1489C>T; p.R497*; 3:30688476-30688476

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; plasma_cell_myelomaSubstitution - Nonsense

c.1489C>T; p.R497*; 3:30688476-30688476

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1583G>T; p.R528L; 3:30691478-30691478

pancreascarcinomaSubstitution - Missense

c.1489C>T; p.R497*; 3:30688476-30688476

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1489C>T; p.R497*; 3:30688476-30688476

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1489C>T; p.R497*; 3:30688476-30688476

large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.598A>G; p.T200A; 3:30671781-30671781

breastcarcinomaSubstitution - Missense

c.1585C>T; p.L529F; 3:30691480-30691480

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1570G>T; p.D524Y; 3:30691465-30691465

pancreasNSSubstitution - Missense

c.1585C>T; p.L529F; 3:30691480-30691480

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.373G>A; p.E125K; 3:30650379-30650379

skinmalignant_melanomaSubstitution - Missense

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

central_nervous_system; brainstemglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

pleurapulmonary_blastomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

biliary_tract; bile_ductcarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.374delA; p.K128fs*35; 3:30650380-30650380

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1570G>A; p.D524N; 3:30691465-30691465

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.751G>A; p.G251R; 3:30671934-30671934

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1570G>A; p.D524N; 3:30691465-30691465

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1570G>A; p.D524N; 3:30691465-30691465

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.229T>C; p.C77R; 3:30644881-30644881

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1151A>G; p.N384S; 3:30672334-30672334

ovarycarcinomaSubstitution - Missense

c.230G>C; p.C77S; 3:30644882-30644882

pancreascarcinomaSubstitution - Missense

c.1205T>C; p.L402P; 3:30672388-30672388

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.400T>G; p.F134V; 3:30650406-30650406

stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.1403A>G; p.K468R; 3:30688390-30688390

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1501C>T; p.P501S; 3:30688488-30688488

skinmalignant_melanomaSubstitution - Missense

c.1196G>C; p.G399A; 3:30672379-30672379

kidneyother; neoplasmSubstitution - Missense

c.1574C>A; p.P525Q; 3:30691469-30691469

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.793C>T; p.Q265*; 3:30671976-30671976

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1555G>A; p.E519K; 3:30691450-30691450

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1563G>T; p.W521C; 3:30691458-30691458

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1181G>T; p.C394F; 3:30672364-30672364

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1017G>A; p.R339R; 3:30672200-30672200

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.308A>G; p.D103G; 3:30650314-30650314

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.308A>G; p.D103G; 3:30650314-30650314

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.968T>C; p.L323P; 3:30672151-30672151

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1231G>T; p.D411Y; 3:30672414-30672414

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.222C>A; p.T74T; 3:30644874-30644874

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.968T>C; p.L323P; 3:30672151-30672151

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1254+2T>G; p.?; 3:30672439-30672439

stomachcarcinoma; adenocarcinomaUnknown

c.1081C>T; p.L361F; 3:30672264-30672264

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.303C>T; p.C101C; 3:30650309-30650309

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.949T>C; p.L317L; 3:30672132-30672132

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.949T>C; p.L317L; 3:30672132-30672132

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.212G>A; p.C71Y; 3:30644864-30644864

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1322C>T; p.S441F; 3:30674172-30674172

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1659_1660GG>TT; p.S553>?; 3:30691554-30691555

lungcarcinoma; adenocarcinomaComplex

c.1318G>T; p.E440*; 3:30674168-30674168

oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.307G>A; p.D103N; 3:30650313-30650313

breastcarcinomaSubstitution - Missense

c.1356G>A; p.L452L; 3:30674206-30674206

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent


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