Cancer metastasis database

Annotation category 5

Gene information

Gene ID 5244
Symbol

ABCB4

Synonymous

ABC21|GBD1|ICP3|MDR2|MDR2/3|MDR3|PFIC-3|PGY3

Full name

ATP-binding cassette, sub-family B (MDR/TAP), member 4

Gene description

ATP-binding cassette sub-family B member 4|P glycoprotein 3/multiple drug resistance 3|P-glycoprotein 3|P-glycoprotein-3/multiple drug resistance-3|multidrug resistance protein 3|multiple drug resistance 3

Cytoband

7q21.1

Gene type

protein-coding

Synonymous

MIM:171060; HGNC:HGNC:45; Ensembl:ENSG00000005471; HPRD:01371; Vega:OTTHUMG00000023396

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.16G>A; p.A6T; 7:87475450-87475450

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.487G>T; p.G163*; 7:87452993-87452993

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Nonsense

c.2482A>G; p.T828A; 7:87417512-87417512

central_nervous_system; braingliomaSubstitution - Missense

c.3753G>C; p.K1251N; 7:87402183-87402183

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2869C>T; p.R957*; 7:87411948-87411948

skinmalignant_melanomaSubstitution - Nonsense

c.2869C>T; p.R957*; 7:87411948-87411948

breastcarcinomaSubstitution - Nonsense

c.1958T>A; p.M653K; 7:87426856-87426856

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3140C>T; p.A1047V; 7:87408176-87408176

skinmalignant_melanomaSubstitution - Missense

c.3711G>T; p.Q1237H; 7:87402225-87402225

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2140G>A; p.G714R; 7:87423977-87423977

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.269G>A; p.G90E; 7:87462775-87462775

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.269G>A; p.G90E; 7:87462775-87462775

skinmalignant_melanomaSubstitution - Missense

c.2721G>A; p.V907V; 7:87413679-87413679

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.269G>A; p.G90E; 7:87462775-87462775

skinmalignant_melanomaSubstitution - Missense

c.288G>T; p.V96V; 7:87454591-87454591

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3447A>C; p.K1149N; 7:87406327-87406327

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.148G>A; p.D50N; 7:87462896-87462896

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3274A>G; p.T1092A; 7:87408042-87408042

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.823G>T; p.E275*; 7:87449978-87449978

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.148G>A; p.D50N; 7:87462896-87462896

pancreascarcinomaSubstitution - Missense

c.139C>T; p.R47*; 7:87462905-87462905

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Nonsense

c.139C>T; p.R47*; 7:87462905-87462905

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.139C>T; p.R47*; 7:87462905-87462905

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.139C>T; p.R47*; 7:87462905-87462905

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1865G>T; p.G622V; 7:87431432-87431432

urinary_tract; bladdercarcinomaSubstitution - Missense

c.225G>A; p.M75I; 7:87462819-87462819

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.750A>C; p.A250A; 7:87450051-87450051

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.165G>T; p.L55F; 7:87462879-87462879

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2925-8C>A; p.?; 7:87409400-87409400

livercarcinomaUnknown

c.3117C>T; p.V1039V; 7:87408199-87408199

breastcarcinomaSubstitution - coding silent

c.537-3delT; p.?; 7:87451797-87451797

large_intestine; caecumcarcinoma; adenocarcinomaUnknown

c.1570A>G; p.T524A; 7:87439828-87439828

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.537-3delT; p.?; 7:87451797-87451797

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.2422A>T; p.N808Y; 7:87418593-87418593

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3614T>C; p.L1205P; 7:87403154-87403154

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2301delT; p.F767fs*30; 7:87422136-87422136

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.3137G>A; p.R1046Q; 7:87408179-87408179

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3614T>C; p.L1205P; 7:87403154-87403154

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2301delT; p.F767fs*30; 7:87422136-87422136

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2469A>C; p.Q823H; 7:87418546-87418546

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1587A>G; p.R529R; 7:87439811-87439811

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2060G>A; p.G687E; 7:87426754-87426754

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1545C>A; p.I515I; 7:87440214-87440214

breastcarcinomaSubstitution - coding silent

c.567T>C; p.G189G; 7:87451764-87451764

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.657G>A; p.V219V; 7:87451674-87451674

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3703A>T; p.T1235S; 7:87402233-87402233

livercarcinomaSubstitution - Missense

c.3703A>T; p.T1235S; 7:87402233-87402233

livercarcinomaSubstitution - Missense

c.472C>G; p.L158V; 7:87453008-87453008

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3321G>A; p.W1107*; 7:87406453-87406453

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.345-4T>C; p.?; 7:87453139-87453139

ovaryother; neoplasmUnknown

c.296C>T; p.S99F; 7:87454583-87454583

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1727A>G; p.D576G; 7:87439671-87439671

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3431T>C; p.I1144T; 7:87406343-87406343

pancreascarcinoid-endocrine_tumour; islet_cellSubstitution - Missense

c.1624G>A; p.A542T; 7:87439774-87439774

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3160G>A; p.G1054R; 7:87408156-87408156

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.29C>T; p.T10I; 7:87475437-87475437

oesophaguscarcinomaSubstitution - Missense

c.3172G>C; p.E1058Q; 7:87408144-87408144

skinmalignant_melanomaSubstitution - Missense

c.1014_1015delTT; p.S339fs*16; 7:87444966-87444967

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.102G>A; p.T34T; 7:87472654-87472654

skinmalignant_melanomaSubstitution - coding silent

c.102G>A; p.T34T; 7:87472654-87472654

skinmalignant_melanomaSubstitution - coding silent

c.1432G>T; p.E478*; 7:87440327-87440327

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2948G>T; p.G983V; 7:87409369-87409369

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2921T>C; p.I974T; 7:87411896-87411896

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.102G>A; p.T34T; 7:87472654-87472654

skinmalignant_melanomaSubstitution - coding silent

c.255T>G; p.F85L; 7:87462789-87462789

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1176G>T; p.G392G; 7:87443717-87443717

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.519C>A; p.L173L; 7:87452961-87452961

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3543G>A; p.Q1181Q; 7:87403225-87403225

livercarcinomaSubstitution - coding silent

c.2752A>T; p.M918L; 7:87413648-87413648

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.969C>G; p.V323V; 7:87447070-87447070

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1731+6T>A; p.?; 7:87439661-87439661

pancreascarcinomaUnknown

c.1357-4delT; p.?; 7:87440406-87440406

livercarcinoma; hepatocellular_carcinomaUnknown

c.1623C>T; p.I541I; 7:87439775-87439775

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1954A>G; p.R652G; 7:87426860-87426860

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1731+6T>A; p.?; 7:87439661-87439661

pancreascarcinomaUnknown

c.3391G>A; p.A1131T; 7:87406383-87406383

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.414G>A; p.W138*; 7:87453066-87453066

skin; trunkmalignant_melanomaSubstitution - Nonsense

c.2136C>T; p.V712V; 7:87423981-87423981

skinmalignant_melanomaSubstitution - coding silent

c.1914G>A; p.Q638Q; 7:87426900-87426900

soft_tissue; blood_vesselangiosarcomaSubstitution - coding silent

c.3423G>A; p.Q1141Q; 7:87406351-87406351

skinmalignant_melanomaSubstitution - coding silent

c.2054C>A; p.T685N; 7:87426760-87426760

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3622G>A; p.E1208K; 7:87403146-87403146

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2055C>A; p.T685T; 7:87426759-87426759

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.468T>C; p.A156A; 7:87453012-87453012

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2625_2629delGAAAT; p.M875fs*10; 7:87417365-87417369

livercarcinomaDeletion - Frameshift

c.3285C>T; p.L1095L; 7:87406489-87406489

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1036A>G; p.S346G; 7:87444945-87444945

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.463C>T; p.H155Y; 7:87453017-87453017

skinmalignant_melanomaSubstitution - Missense

c.463C>T; p.H155Y; 7:87453017-87453017

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.283C>T; p.P95S; 7:87462761-87462761

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.3559C>T; p.R1187*; 7:87403209-87403209

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.283C>T; p.P95S; 7:87462761-87462761

skinmalignant_melanomaSubstitution - Missense

c.526C>T; p.R176W; 7:87452954-87452954

pancreascarcinomaSubstitution - Missense

c.3269C>T; p.A1090V; 7:87408047-87408047

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.526C>T; p.R176W; 7:87452954-87452954

pancreascarcinomaSubstitution - Missense

c.344+5C>A; p.?; 7:87454530-87454530

lungcarcinoma; squamous_cell_carcinomaUnknown

c.1408G>A; p.E470K; 7:87440351-87440351

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1408G>A; p.E470K; 7:87440351-87440351

skinmalignant_melanomaSubstitution - Missense

c.2262C>A; p.F754L; 7:87422175-87422175

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2965C>A; p.H989N; 7:87409352-87409352

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3471C>T; p.I1157I; 7:87406303-87406303

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2827A>G; p.I943V; 7:87411990-87411990

livercarcinomaSubstitution - Missense

c.51G>A; p.A17A; 7:87475415-87475415

prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.2827A>G; p.I943V; 7:87411990-87411990

livercarcinomaSubstitution - Missense

c.2462C>T; p.A821V; 7:87418553-87418553

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2230G>A; p.D744N; 7:87422207-87422207

breastcarcinomaSubstitution - Missense

c.271A>C; p.N91H; 7:87462773-87462773

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.182C>T; p.T61I; 7:87462862-87462862

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1909A>C; p.I637L; 7:87426905-87426905

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3830A>G; p.Q1277R; 7:87402106-87402106

pancreascarcinomaSubstitution - Missense

c.1447T>C; p.S483P; 7:87440312-87440312

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1779G>A; p.T593T; 7:87431518-87431518

breastcarcinomaSubstitution - coding silent

c.3203T>G; p.V1068G; 7:87408113-87408113

breastcarcinomaSubstitution - Missense

c.1801G>A; p.A601T; 7:87431496-87431496

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2852C>T; p.S951F; 7:87411965-87411965

skinmalignant_melanomaSubstitution - Missense

c.2738G>A; p.R913K; 7:87413662-87413662

skinmalignant_melanomaSubstitution - Missense

c.3781G>A; p.A1261T; 7:87402155-87402155

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.940C>A; p.L314M; 7:87447099-87447099

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2694G>C; p.E898D; 7:87413706-87413706

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.213C>T; p.L71L; 7:87462831-87462831

skinmalignant_melanomaSubstitution - coding silent

c.2119G>T; p.E707*; 7:87423998-87423998

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.469A>G; p.I157V; 7:87453011-87453011

livercarcinomaSubstitution - Missense

c.3336C>G; p.L1112L; 7:87406438-87406438

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1778C>T; p.T593M; 7:87431519-87431519

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1553T>C; p.L518S; 7:87440206-87440206

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.850G>A; p.E284K; 7:87447189-87447189

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.140G>A; p.R47Q; 7:87462904-87462904

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3486+1G>A; p.?; 7:87406287-87406287

central_nervous_system; brainglioma; astrocytoma_Grade_IVUnknown

c.300G>A; p.L100L; 7:87454579-87454579

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3710A>G; p.Q1237R; 7:87402226-87402226

livercarcinomaSubstitution - Missense

c.3710A>G; p.Q1237R; 7:87402226-87402226

livercarcinomaSubstitution - Missense

c.573G>T; p.K191N; 7:87451758-87451758

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1845C>T; p.S615S; 7:87431452-87431452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2124G>A; p.W708*; 7:87423993-87423993

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2226C>T; p.G742G; 7:87422211-87422211

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3674C>A; p.T1225N; 7:87402262-87402262

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.100_101insA; p.T34fs*21; 7:87472655-87472656

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1800C>T; p.I600I; 7:87431497-87431497

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1260G>T; p.Q420H; 7:87443415-87443415

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1748C>A; p.T583N; 7:87431549-87431549

skinmalignant_melanomaSubstitution - Missense

c.3442G>C; p.A1148P; 7:87406332-87406332

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.440G>T; p.R147M; 7:87453040-87453040

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3392C>T; p.A1131V; 7:87406382-87406382

pancreascarcinomaSubstitution - Missense

c.2886C>T; p.L962L; 7:87411931-87411931

skinmalignant_melanomaSubstitution - coding silent

c.969C>T; p.V323V; 7:87447070-87447070

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2377A>G; p.K793E; 7:87420015-87420015

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.504C>T; p.N168N; 7:87452976-87452976

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3483C>A; p.P1161P; 7:87406291-87406291

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.25G>C; p.G9R; 7:87475441-87475441

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2065-2A>G; p.?; 7:87424054-87424054

stomachcarcinoma; intestinal_adenocarcinomaUnknown

c.2249A>G; p.K750R; 7:87422188-87422188

breastcarcinomaSubstitution - Missense

c.679C>A; p.L227I; 7:87451652-87451652

livercarcinomaSubstitution - Missense

c.1015delT; p.S339fs*3; 7:87444966-87444966

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1015delT; p.S339fs*3; 7:87444966-87444966

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1015delT; p.S339fs*3; 7:87444966-87444966

lungcarcinoma; small_cell_carcinomaDeletion - Frameshift

c.1015delT; p.S339fs*3; 7:87444966-87444966

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1015delT; p.S339fs*3; 7:87444966-87444966

livercarcinomaDeletion - Frameshift

c.1015delT; p.S339fs*3; 7:87444966-87444966

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.1015delT; p.S339fs*3; 7:87444966-87444966

stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.364_365GG>TT; p.G122>?; 7:87453115-87453116

lungcarcinoma; adenocarcinomaComplex

c.3353A>G; p.E1118G; 7:87406421-87406421

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3353A>G; p.E1118G; 7:87406421-87406421

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3358A>G; p.I1120V; 7:87406416-87406416

livercarcinomaSubstitution - Missense

c.3358A>G; p.I1120V; 7:87406416-87406416

livercarcinomaSubstitution - Missense

c.2758G>T; p.V920F; 7:87413642-87413642

livercarcinomaSubstitution - Missense

c.573G>A; p.K191K; 7:87451758-87451758

stomachadenocarcinomaSubstitution - coding silent

c.2443A>T; p.T815S; 7:87418572-87418572

skinmalignant_melanomaSubstitution - Missense

c.2957C>T; p.A986V; 7:87409360-87409360

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2168G>A; p.G723E; 7:87423949-87423949

skinmalignant_melanomaSubstitution - Missense

c.2954T>C; p.V985A; 7:87409363-87409363

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3613C>A; p.L1205M; 7:87403155-87403155

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2906G>A; p.R969H; 7:87411911-87411911

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1846G>A; p.E616K; 7:87431451-87431451

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.879delA; p.A294fs*14; 7:87447160-87447160

large_intestinecarcinoma; adenocarcinomaDeletion - Frameshift

c.3231G>A; p.T1077T; 7:87408085-87408085

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.75C>T; p.I25I; 7:87475391-87475391

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.3728T>C; p.V1243A; 7:87402208-87402208

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.75C>T; p.I25I; 7:87475391-87475391

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1592C>T; p.A531V; 7:87439806-87439806

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3284T>C; p.L1095P; 7:87406490-87406490

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.75C>T; p.I25I; 7:87475391-87475391

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3810C>T; p.V1270V; 7:87402126-87402126

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2312T>G; p.L771R; 7:87422125-87422125

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3831G>A; p.Q1277Q; 7:87402105-87402105

skin; armmalignant_melanomaSubstitution - coding silent

c.1057T>A; p.C353S; 7:87444924-87444924

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.539A>T; p.D180V; 7:87451792-87451792

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3377T>C; p.I1126T; 7:87406397-87406397

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.3515G>A; p.G1172E; 7:87403253-87403253

skinmalignant_melanomaSubstitution - Missense

c.21G>T; p.K7N; 7:87475445-87475445

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.445A>T; p.I149F; 7:87453035-87453035

breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.21G>T; p.K7N; 7:87475445-87475445

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1413C>T; p.I471I; 7:87440346-87440346

skinmalignant_melanomaSubstitution - coding silent

c.3440C>T; p.A1147V; 7:87406334-87406334

breastcarcinomaSubstitution - Missense

c.2169delG; p.L724fs*13; 7:87423948-87423948

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1015T>G; p.S339A; 7:87444966-87444966

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3221G>A; p.G1074E; 7:87408095-87408095

skinmalignant_melanomaSubstitution - Missense

c.2526T>C; p.L842L; 7:87417468-87417468

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1298G>A; p.C433Y; 7:87443377-87443377

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1782C>G; p.V594V; 7:87431515-87431515

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2331G>A; p.G777G; 7:87420061-87420061

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.217C>T; p.L73F; 7:87462827-87462827

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.984T>C; p.Y328Y; 7:87447055-87447055

livercarcinomaSubstitution - coding silent

c.2368A>G; p.M790V; 7:87420024-87420024

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.652C>T; p.L218F; 7:87451679-87451679

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2662G>T; p.E888*; 7:87417332-87417332

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1970G>T; p.G657V; 7:87426844-87426844

endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.862G>A; p.E288K; 7:87447177-87447177

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2016A>C; p.K672N; 7:87426798-87426798

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2385G>A; p.M795I; 7:87420007-87420007

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2044G>T; p.D682Y; 7:87426770-87426770

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2301_2302insT; p.T768fs*26; 7:87422135-87422136

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1733C>T; p.A578V; 7:87431564-87431564

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3499A>T; p.R1167*; 7:87403269-87403269

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3378T>G; p.I1126M; 7:87406396-87406396

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2757T>C; p.Y919Y; 7:87413643-87413643

livercarcinoma; hepatocellular_carcinomaSubstitution - coding silent

c.2757T>C; p.Y919Y; 7:87413643-87413643

livercarcinomaSubstitution - coding silent

c.2309T>A; p.F770Y; 7:87422128-87422128

skinmalignant_melanomaSubstitution - Missense

c.2748A>G; p.E916E; 7:87413652-87413652

livercarcinomaSubstitution - coding silent

c.1931T>A; p.L644Q; 7:87426883-87426883

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1306A>G; p.S436G; 7:87443369-87443369

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1634G>A; p.R545H; 7:87439764-87439764

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1634G>A; p.R545H; 7:87439764-87439764

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.165G>A; p.L55L; 7:87462879-87462879

pituitary; craniopharyngeal_ductcraniopharyngioma; adamantinomatousSubstitution - coding silent

c.754G>A; p.A252T; 7:87450047-87450047

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.456_457insG; p.F153fs*14; 7:87453023-87453024

stomachcarcinoma; diffuse_adenocarcinomaInsertion - Frameshift

c.2354G>A; p.R785K; 7:87420038-87420038

breastcarcinomaSubstitution - Missense

c.1580G>A; p.G527E; 7:87439818-87439818

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.377G>A; p.G126E; 7:87453103-87453103

skinmalignant_melanomaSubstitution - Missense

c.762C>T; p.A254A; 7:87450039-87450039

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2903T>C; p.M968T; 7:87411914-87411914

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3330T>C; p.A1110A; 7:87406444-87406444

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2898A>G; p.G966G; 7:87411919-87411919

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.760G>A; p.A254T; 7:87450041-87450041

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.760G>A; p.A254T; 7:87450041-87450041

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.462delT; p.H155fs*8; 7:87453018-87453018

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2515A>T; p.I839L; 7:87417479-87417479

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1587_1588delAG; p.A531fs*27; 7:87439810-87439811

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.2369T>C; p.M790T; 7:87420023-87420023

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1130T>A; p.I377N; 7:87443763-87443763

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1345G>A; p.D449N; 7:87443330-87443330

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3258C>T; p.Y1086Y; 7:87408058-87408058

breastcarcinomaSubstitution - coding silent

c.3258C>T; p.Y1086Y; 7:87408058-87408058

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1589G>A; p.G530E; 7:87439809-87439809

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1055C>T; p.P352L; 7:87444926-87444926

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.199C>T; p.H67Y; 7:87462845-87462845

breastcarcinomaSubstitution - Missense

c.899C>A; p.S300Y; 7:87447140-87447140

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.216C>A; p.P72P; 7:87462828-87462828

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3774G>C; p.Q1258H; 7:87402162-87402162

thyroidcarcinomaSubstitution - Missense

c.3225G>C; p.K1075N; 7:87408091-87408091

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.3499A>G; p.R1167G; 7:87403269-87403269

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.3046C>T; p.L1016L; 7:87409271-87409271

skin; shouldermalignant_melanomaSubstitution - coding silent

c.3046C>T; p.L1016L; 7:87409271-87409271

skinmalignant_melanomaSubstitution - coding silent

c.995A>T; p.N332I; 7:87447044-87447044

livercarcinomaSubstitution - Missense

c.995A>T; p.N332I; 7:87447044-87447044

livercarcinomaSubstitution - Missense

c.42C>A; p.P14P; 7:87475424-87475424

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1123C>T; p.P375S; 7:87443770-87443770

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.744T>G; p.A248A; 7:87450057-87450057

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1651C>A; p.P551T; 7:87439747-87439747

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1782C>T; p.V594V; 7:87431515-87431515

skinmalignant_melanomaSubstitution - coding silent

c.2314C>T; p.Q772*; 7:87422123-87422123

skinmalignant_melanomaSubstitution - Nonsense

c.709-2A>G; p.?; 7:87450094-87450094

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.731A>G; p.K244R; 7:87450070-87450070

skinmalignant_melanomaSubstitution - Missense

c.1656G>C; p.K552N; 7:87439742-87439742

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2783+4A>G; p.?; 7:87413613-87413613

lungcarcinoma; squamous_cell_carcinomaUnknown

c.201C>T; p.H67H; 7:87462843-87462843

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2701G>A; p.E901K; 7:87413699-87413699

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3374G>A; p.S1125N; 7:87406400-87406400

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.302C>T; p.S101L; 7:87454577-87454577

central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - Missense

c.3795C>A; p.I1265I; 7:87402141-87402141

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.146C>T; p.S49F; 7:87462898-87462898

skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2362C>T; p.R788W; 7:87420030-87420030

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.94A>G; p.K32E; 7:87472662-87472662

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2092C>T; p.L698L; 7:87424025-87424025

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3179A>C; p.K1060T; 7:87408137-87408137

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1680G>A; p.T560T; 7:87439718-87439718

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1680G>A; p.T560T; 7:87439718-87439718

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.475C>T; p.R159*; 7:87453005-87453005

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.475C>T; p.R159*; 7:87453005-87453005

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1813G>A; p.D605N; 7:87431484-87431484

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1813G>A; p.D605N; 7:87431484-87431484

livercarcinomaSubstitution - Missense

c.1537G>C; p.E513Q; 7:87440222-87440222

breastcarcinomaSubstitution - Missense

c.2727G>A; p.L909L; 7:87413673-87413673

breastcarcinomaSubstitution - coding silent

c.2608T>C; p.S870P; 7:87417386-87417386

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.2064+5G>T; p.?; 7:87426745-87426745

prostatecarcinomaUnknown

c.1645C>T; p.R549C; 7:87439753-87439753

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1834G>A; p.G612R; 7:87431463-87431463

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3096A>C; p.G1032G; 7:87408220-87408220

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1538A>T; p.E513V; 7:87440221-87440221

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.753delA; p.A252fs*15; 7:87450048-87450048

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.3074T>C; p.L1025P; 7:87409243-87409243

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1679C>T; p.T560M; 7:87439719-87439719

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1393G>A; p.V465I; 7:87440366-87440366

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3223_3224delAA; p.K1075fs*48; 7:87408092-87408093

central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.1679C>T; p.T560M; 7:87439719-87439719

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.37C>T; p.R13C; 7:87475429-87475429

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1702G>T; p.E568*; 7:87439696-87439696

lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.191C>T; p.A64V; 7:87462853-87462853

prostatecarcinomaSubstitution - Missense

c.1994A>G; p.H665R; 7:87426820-87426820

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.100delA; p.T34fs*4; 7:87472656-87472656

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2441C>T; p.S814F; 7:87418574-87418574

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2423delA; p.N808fs*27; 7:87418592-87418592

large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1744C>T; p.R582W; 7:87431553-87431553

large_intestine; caecumadenomaSubstitution - Missense

c.2137G>A; p.V713M; 7:87423980-87423980

pancreascarcinomaSubstitution - Missense

c.759C>T; p.G253G; 7:87450042-87450042

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3094G>A; p.G1032R; 7:87408222-87408222

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2137G>A; p.V713M; 7:87423980-87423980

pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.2137G>A; p.V713M; 7:87423980-87423980

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2670A>C; p.E890D; 7:87417324-87417324

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.317G>A; p.G106D; 7:87454562-87454562

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3094G>A; p.G1032R; 7:87408222-87408222

skinmalignant_melanomaSubstitution - Missense

c.635G>C; p.R212T; 7:87451696-87451696

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.641G>A; p.W214*; 7:87451690-87451690

skinmalignant_melanomaSubstitution - Nonsense

c.2220A>G; p.G740G; 7:87422217-87422217

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2701G>T; p.E901*; 7:87413699-87413699

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1131T>C; p.I377I; 7:87443762-87443762

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2701G>T; p.E901*; 7:87413699-87413699

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.175C>G; p.L59V; 7:87462869-87462869

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.430C>T; p.R144*; 7:87453050-87453050

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.430C>T; p.R144*; 7:87453050-87453050

skinmalignant_melanomaSubstitution - Nonsense

c.2054C>G; p.T685S; 7:87426760-87426760

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3765G>T; p.T1255T; 7:87402171-87402171

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.175C>G; p.L59V; 7:87462869-87462869

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1124C>A; p.P375H; 7:87443769-87443769

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1118A>G; p.N373S; 7:87444863-87444863

parathyroidadenomaSubstitution - Missense

c.54G>A; p.E18E; 7:87475412-87475412

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.467C>T; p.A156V; 7:87453013-87453013

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2808C>A; p.I936I; 7:87412009-87412009

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1093T>C; p.Y365H; 7:87444888-87444888

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.54G>A; p.E18E; 7:87475412-87475412

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.322A>T; p.I108F; 7:87454557-87454557

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3631A>G; p.K1211E; 7:87403137-87403137

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.407C>T; p.S136L; 7:87453073-87453073

skinmalignant_melanomaSubstitution - Missense

c.2914G>T; p.D972Y; 7:87411903-87411903

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3297A>C; p.E1099D; 7:87406477-87406477

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3575A>G; p.Q1192R; 7:87403193-87403193

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1861G>A; p.E621K; 7:87431436-87431436

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2870G>A; p.R957Q; 7:87411947-87411947

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3838T>C; p.*1280R; 7:87402098-87402098

stomachcarcinoma; adenocarcinomaNonstop extension

c.3838T>C; p.*1280R; 7:87402098-87402098

livercarcinomaNonstop extension

c.3838T>C; p.*1280R; 7:87402098-87402098

livercarcinomaNonstop extension

c.3262C>A; p.P1088T; 7:87408054-87408054

breastcarcinomaSubstitution - Missense

c.2723C>A; p.S908Y; 7:87413677-87413677

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.460T>G; p.F154V; 7:87453020-87453020

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.279C>T; p.S93S; 7:87462765-87462765

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2897G>C; p.G966A; 7:87411920-87411920

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2141G>A; p.G714E; 7:87423976-87423976

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.369G>T; p.L123F; 7:87453111-87453111

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3615G>A; p.L1205L; 7:87403153-87403153

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1930C>G; p.L644V; 7:87426884-87426884

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1204T>C; p.S402P; 7:87443689-87443689

haematopoietic_and_lymphoid_tissue; central_nervous_systemlymphoid_neoplasm; primary_central_nervous_system_lymphomaSubstitution - Missense

c.699T>G; p.V233V; 7:87451632-87451632

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2567T>C; p.L856S; 7:87417427-87417427

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.101C>T; p.T34M; 7:87472655-87472655

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.3613C>G; p.L1205V; 7:87403155-87403155

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1878A>T; p.K626N; 7:87431419-87431419

ovaryother; neoplasmSubstitution - Missense

c.3832A>G; p.N1278D; 7:87402104-87402104

livercarcinomaSubstitution - Missense

c.1548G>A; p.M516I; 7:87440211-87440211

skinmalignant_melanomaSubstitution - Missense

c.3832A>G; p.N1278D; 7:87402104-87402104

livercarcinomaSubstitution - Missense

c.303G>A; p.S101S; 7:87454576-87454576

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.70G>C; p.G24R; 7:87475396-87475396

central_nervous_system; braingliomaSubstitution - Missense

c.609delT; p.F203fs*5; 7:87451722-87451722

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1577T>G; p.V526G; 7:87439821-87439821

breastcarcinomaSubstitution - Missense

c.1971C>T; p.G657G; 7:87426843-87426843

skinmalignant_melanomaSubstitution - coding silent

c.3612T>G; p.A1204A; 7:87403156-87403156

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2390G>T; p.R797I; 7:87420002-87420002

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1015_1016insT; p.S339fs*17; 7:87444965-87444966

oesophaguscarcinoma; adenocarcinomaInsertion - Frameshift

c.2658A>G; p.K886K; 7:87417336-87417336

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3217T>C; p.C1073R; 7:87408099-87408099

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.3347C>A; p.S1116Y; 7:87406427-87406427

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1006G>T; p.V336F; 7:87444975-87444975

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.711A>T; p.I237I; 7:87450090-87450090

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.711A>T; p.I237I; 7:87450090-87450090

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent