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

Basic Information

Gene ID

83394

Name

PITPNM3

The somatic mutations from COSMIC database

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1779G>A; p.M593I; 17:6468336-6468336

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.323G>A; p.G108E; 17:6484244-6484244

skinmalignant_melanomaSubstitution - Missense

c.337C>A; p.H113N; 17:6484230-6484230

breastcarcinomaSubstitution - Missense

c.1726G>C; p.A576P; 17:6470307-6470307

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.758G>A; p.G253E; 17:6478566-6478566

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1675C>T; p.P559S; 17:6470358-6470358

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.100G>A; p.E34K; 17:6538005-6538005

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2526G>A; p.T842T; 17:6457687-6457687

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2031G>A; p.E677E; 17:6464295-6464295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.241C>T; p.P81S; 17:6503560-6503560

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2089A>G; p.I697V; 17:6464237-6464237

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.241C>T; p.P81S; 17:6503560-6503560

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.241C>T; p.P81S; 17:6503560-6503560

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.864C>T; p.A288A; 17:6478011-6478011

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1972G>A; p.G658R; 17:6464690-6464690

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1273C>T; p.P425S; 17:6472813-6472813

autonomic_ganglianeuroblastomaSubstitution - Missense

c.2807C>T; p.A936V; 17:6455456-6455456

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2328C>T; p.Y776Y; 17:6461535-6461535

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2510C>T; p.A837V; 17:6457703-6457703

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.732C>A; p.Y244*; 17:6478592-6478592

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.717A>T; p.R239R; 17:6478607-6478607

central_nervous_system; braingliomaSubstitution - coding silent

c.2810C>A; p.A937D; 17:6455453-6455453

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2857G>T; p.D953Y; 17:6455406-6455406

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2857G>T; p.D953Y; 17:6455406-6455406

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.222T>C; p.H74H; 17:6525360-6525360

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.147C>T; p.I49I; 17:6525435-6525435

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2268C>T; p.S756S; 17:6463770-6463770

stomachadenocarcinomaSubstitution - coding silent

c.2087G>A; p.R696H; 17:6464239-6464239

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.70C>A; p.L24I; 17:6538035-6538035

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1736G>T; p.W579L; 17:6470297-6470297

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.265G>A; p.E89K; 17:6503536-6503536

skinmalignant_melanomaSubstitution - Missense

c.477C>T; p.S159S; 17:6483627-6483627

thyroidother; neoplasmSubstitution - coding silent

c.1621C>T; p.R541C; 17:6471164-6471164

prostatecarcinomaSubstitution - Missense

c.1904A>T; p.N635I; 17:6464758-6464758

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.435G>A; p.G145G; 17:6483669-6483669

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2037C>T; p.S679S; 17:6464289-6464289

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1870C>T; p.R624W; 17:6468245-6468245

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.183C>T; p.L61L; 17:6525399-6525399

skinmalignant_melanomaSubstitution - coding silent

c.1830A>G; p.A610A; 17:6468285-6468285

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2709G>A; p.L903L; 17:6455554-6455554

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2709G>A; p.L903L; 17:6455554-6455554

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.2196G>T; p.L732F; 17:6463842-6463842

kidneyWilms_tumourSubstitution - Missense

c.279A>G; p.E93E; 17:6484288-6484288

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.734G>T; p.R245I; 17:6478590-6478590

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.407G>A; p.G136E; 17:6483697-6483697

skinmalignant_melanomaSubstitution - Missense

c.2904delC; p.K969fs*>6; 17:6455359-6455359

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1850G>A; p.R617Q; 17:6468265-6468265

livercarcinomaSubstitution - Missense

c.2904delC; p.K969fs*>6; 17:6455359-6455359

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1850G>A; p.R617Q; 17:6468265-6468265

livercarcinomaSubstitution - Missense

c.45T>A; p.G15G; 17:6538060-6538060

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1950C>T; p.V650V; 17:6464712-6464712

skinmalignant_melanomaSubstitution - coding silent

c.1950C>T; p.V650V; 17:6464712-6464712

skinmalignant_melanomaSubstitution - coding silent

c.1976C>T; p.P659L; 17:6464686-6464686

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.462C>G; p.I154M; 17:6483642-6483642

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.352-1G>A; p.?; 17:6483753-6483753

skinmalignant_melanomaUnknown

c.1477C>T; p.R493W; 17:6471308-6471308

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2474G>A; p.R825H; 17:6461389-6461389

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.988G>A; p.E330K; 17:6477126-6477126

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2409G>T; p.Q803H; 17:6461454-6461454

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1487C>T; p.P496L; 17:6471298-6471298

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2108G>A; p.R703Q; 17:6464218-6464218

pancreascarcinomaSubstitution - Missense

c.2259C>T; p.I753I; 17:6463779-6463779

skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.802G>T; p.G268W; 17:6478073-6478073

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2228T>A; p.I743N; 17:6463810-6463810

autonomic_ganglianeuroblastomaSubstitution - Missense

c.1041C>T; p.T347T; 17:6477073-6477073

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.2641G>A; p.A881T; 17:6455622-6455622

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2641G>A; p.A881T; 17:6455622-6455622

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.903C>T; p.D301D; 17:6477211-6477211

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.238G>A; p.A80T; 17:6503563-6503563

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.238G>A; p.A80T; 17:6503563-6503563

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.49C>T; p.P17S; 17:6538056-6538056

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.49C>T; p.P17S; 17:6538056-6538056

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1608C>T; p.P536P; 17:6471177-6471177

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1608C>T; p.P536P; 17:6471177-6471177

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.915G>A; p.A305A; 17:6477199-6477199

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1080C>T; p.L360L; 17:6477034-6477034

breastcarcinomaSubstitution - coding silent

c.507C>T; p.F169F; 17:6483597-6483597

skinmalignant_melanomaSubstitution - coding silent

c.2174C>T; p.A725V; 17:6463864-6463864

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2430T>C; p.D810D; 17:6461433-6461433

thyroidother; neoplasmSubstitution - coding silent

c.2430T>C; p.D810D; 17:6461433-6461433

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.426G>T; p.T142T; 17:6483678-6483678

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.2125G>T; p.V709F; 17:6464201-6464201

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.820G>A; p.D274N; 17:6478055-6478055

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.471C>G; p.F157L; 17:6483633-6483633

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.471C>G; p.F157L; 17:6483633-6483633

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2063C>T; p.T688I; 17:6464263-6464263

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2063C>T; p.T688I; 17:6464263-6464263

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1232G>A; p.R411Q; 17:6474458-6474458

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1231C>T; p.R411W; 17:6474459-6474459

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2428G>A; p.D810N; 17:6461435-6461435

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.2675C>T; p.S892L; 17:6455588-6455588

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1846_1847CC>TT; p.P616F; 17:6468268-6468269

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.948G>T; p.K316N; 17:6477166-6477166

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.699C>T; p.V233V; 17:6478625-6478625

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1857G>A; p.K619K; 17:6468258-6468258

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - coding silent

c.1699A>C; p.T567P; 17:6470334-6470334

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2809G>A; p.A937T; 17:6455454-6455454

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2016C>G; p.I672M; 17:6464310-6464310

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1358A>C; p.H453P; 17:6472728-6472728

breastcarcinomaSubstitution - Missense

c.2427C>T; p.S809S; 17:6461436-6461436

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.721A>G; p.N241D; 17:6478603-6478603

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.237C>T; p.T79T; 17:6503564-6503564

livercarcinomaSubstitution - coding silent

c.2096A>G; p.Y699C; 17:6464230-6464230

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.840G>A; p.A280A; 17:6478035-6478035

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1971C>T; p.Y657Y; 17:6464691-6464691

kidneyother; neoplasmSubstitution - coding silent

c.35C>G; p.P12R; 17:6538070-6538070

skinmalignant_melanomaSubstitution - Missense

c.343G>A; p.D115N; 17:6484224-6484224

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.863C>T; p.A288V; 17:6478012-6478012

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1017G>A; p.P339P; 17:6477097-6477097

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1538G>A; p.R513H; 17:6471247-6471247

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2815C>A; p.P939T; 17:6455448-6455448

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2815C>A; p.P939T; 17:6455448-6455448

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2815C>A; p.P939T; 17:6455448-6455448

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2904_2905insC; p.K969fs*>7; 17:6455358-6455359

large_intestinecarcinoma; adenocarcinomaInsertion - Frameshift

c.606C>T; p.H202H; 17:6478718-6478718

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1810G>A; p.A604T; 17:6468305-6468305

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2876C>T; p.P959L; 17:6455387-6455387

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1479G>T; p.R493R; 17:6471306-6471306

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1479G>T; p.R493R; 17:6471306-6471306

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2398A>T; p.N800Y; 17:6461465-6461465

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.649G>A; p.A217T; 17:6478675-6478675

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1167C>T; p.R389R; 17:6474523-6474523

kidneyother; neoplasmSubstitution - coding silent

c.1139C>T; p.P380L; 17:6474551-6474551

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.706G>A; p.V236I; 17:6478618-6478618

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2774G>A; p.R925K; 17:6455489-6455489

urinary_tract; bladdercarcinomaSubstitution - Missense

c.471C>T; p.F157F; 17:6483633-6483633

skinmalignant_melanomaSubstitution - coding silent

c.2280C>T; p.V760V; 17:6463758-6463758

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2280C>T; p.V760V; 17:6463758-6463758

skinmalignant_melanomaSubstitution - coding silent

c.40G>T; p.G14C; 17:6538065-6538065

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1781G>A; p.R594H; 17:6468334-6468334

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.456C>T; p.A152A; 17:6483648-6483648

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.674C>T; p.S225F; 17:6478650-6478650

skinmalignant_melanomaSubstitution - Missense

c.1085+1G>T; p.?; 17:6477028-6477028

lungcarcinoma; small_cell_carcinomaUnknown

c.2797G>A; p.D933N; 17:6455466-6455466

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2415G>A; p.M805I; 17:6461448-6461448

skinmalignant_melanomaSubstitution - Missense

c.1986G>A; p.M662I; 17:6464676-6464676

thyroidcarcinomaSubstitution - Missense

c.31C>T; p.P11S; 17:6538074-6538074

skinmalignant_melanomaSubstitution - Missense

c.31C>T; p.P11S; 17:6538074-6538074

skinmalignant_melanomaSubstitution - Missense

c.1819G>A; p.D607N; 17:6468296-6468296

skinmalignant_melanomaSubstitution - Missense

c.2151C>T; p.V717V; 17:6464175-6464175

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1819G>A; p.D607N; 17:6468296-6468296

skinmalignant_melanomaSubstitution - Missense

c.366G>A; p.Q122Q; 17:6483738-6483738

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2111C>G; p.P704R; 17:6464215-6464215

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1452_1453insTGC; p.S484_P485insC; 17:6471332-6471333

large_intestine; coloncarcinoma; adenocarcinomaInsertion - In frame

c.948G>C; p.K316N; 17:6477166-6477166

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1527G>A; p.S509S; 17:6471258-6471258

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1345G>A; p.E449K; 17:6472741-6472741

skinmalignant_melanomaSubstitution - Missense

c.2269G>A; p.D757N; 17:6463769-6463769

skinmalignant_melanomaSubstitution - Missense

c.1166G>A; p.R389H; 17:6474524-6474524

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2473C>A; p.R825S; 17:6461390-6461390

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.2424C>A; p.F808L; 17:6461439-6461439

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1345G>A; p.E449K; 17:6472741-6472741

skinmalignant_melanomaSubstitution - Missense

c.497G>A; p.R166Q; 17:6483607-6483607

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1625-7C>A; p.?; 17:6470415-6470415

pancreascarcinomaUnknown

c.2453G>T; p.R818L; 17:6461410-6461410

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.937G>T; p.A313S; 17:6477177-6477177

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1978C>T; p.L660F; 17:6464684-6464684

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1377C>T; p.S459S; 17:6472709-6472709

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.207G>A; p.G69G; 17:6525375-6525375

skinmalignant_melanomaSubstitution - coding silent

c.207G>A; p.G69G; 17:6525375-6525375

skinmalignant_melanomaSubstitution - coding silent

c.1625-9G>A; p.?; 17:6470417-6470417

livercarcinoma; hepatocellular_carcinomaUnknown

c.180C>A; p.D60E; 17:6525402-6525402

prostatecarcinomaSubstitution - Missense

c.1429G>A; p.A477T; 17:6472657-6472657

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.753T>G; p.S251S; 17:6478571-6478571

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.348C>T; p.S116S; 17:6484219-6484219

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1270C>T; p.R424C; 17:6472816-6472816

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2043C>T; p.G681G; 17:6464283-6464283

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2910C>T; p.F970F; 17:6455353-6455353

skinmalignant_melanomaSubstitution - coding silent

c.1067A>C; p.H356P; 17:6477047-6477047

breastcarcinomaSubstitution - Missense

c.1780C>T; p.R594C; 17:6468335-6468335

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1557C>T; p.S519S; 17:6471228-6471228

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1557C>T; p.S519S; 17:6471228-6471228

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2452C>T; p.R818W; 17:6461411-6461411

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1670A>G; p.Y557C; 17:6470363-6470363

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1027A>T; p.S343C; 17:6477087-6477087

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1018C>T; p.R340W; 17:6477096-6477096

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.241C>G; p.P81A; 17:6503560-6503560

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.531C>T; p.L177L; 17:6483573-6483573

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1018C>T; p.R340W; 17:6477096-6477096

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2104C>T; p.P702S; 17:6464222-6464222

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1761C>T; p.F587F; 17:6470272-6470272

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1656C>T; p.I552I; 17:6470377-6470377

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1761C>T; p.F587F; 17:6470272-6470272

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1251G>A; p.G417G; 17:6474439-6474439

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2122G>T; p.G708W; 17:6464204-6464204

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.570T>C; p.A190A; 17:6483534-6483534

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.2476A>C; p.N826H; 17:6461387-6461387

skinmalignant_melanomaSubstitution - Missense

c.2476A>C; p.N826H; 17:6461387-6461387

skinmalignant_melanomaSubstitution - Missense

c.2476A>C; p.N826H; 17:6461387-6461387

skinmalignant_melanomaSubstitution - Missense

c.659_660CC>TT; p.P220L; 17:6478664-6478665

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1558G>T; p.E520*; 17:6471227-6471227

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.789C>T; p.I263I; 17:6478086-6478086

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1514C>T; p.P505L; 17:6471271-6471271

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.349G>A; p.E117K; 17:6484218-6484218

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.67G>A; p.V23I; 17:6538038-6538038

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.819C>T; p.F273F; 17:6478056-6478056

skinmalignant_melanomaSubstitution - coding silent

c.1416G>A; p.Q472Q; 17:6472670-6472670

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - coding silent

c.2307-5A>G; p.?; 17:6461561-6461561

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown


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