Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

22806

Name

IKZF3

Synonymous

IKAROS family zinc finger 3 (Aiolos);IKZF3;IKAROS family zinc finger 3 (Aiolos)

Definition

zinc finger DNA binding protein Aiolos|zinc finger protein Aiolos|zinc finger protein, subfamily 1A, 3 (Aiolos)

Position

17q21

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.12.

The copy number variations for various cancers

Top

The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.406C>T; p.H136Y; 17:39792691-39792691

skinmalignant_melanomaSubstitution - Missense

c.82G>A; p.D28N; 17:39829468-39829468

skinmalignant_melanomaSubstitution - Missense

c.855C>A; p.N285K; 17:39766465-39766465

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1260G>T; p.E420D; 17:39766060-39766060

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1050G>C; p.E350D; 17:39766270-39766270

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.23C>T; p.A8V; 17:39832136-39832136

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>T; p.L460F; 17:39765942-39765942

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.23C>T; p.A8V; 17:39832136-39832136

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1378C>T; p.L460F; 17:39765942-39765942

skinmalignant_melanomaSubstitution - Missense

c.483C>T; p.L161L; 17:39791525-39791525

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.512A>G; p.E171G; 17:39791496-39791496

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1330A>G; p.K444E; 17:39765990-39765990

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1010T>G; p.V337G; 17:39766310-39766310

biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.1010T>G; p.V337G; 17:39766310-39766310

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1153G>C; p.D385H; 17:39766167-39766167

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1440C>T; p.F480F; 17:39765880-39765880

skinmalignant_melanomaSubstitution - coding silent

c.1281C>T; p.L427L; 17:39766039-39766039

skinmalignant_melanomaSubstitution - coding silent

c.829G>C; p.E277Q; 17:39766491-39766491

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1357C>T; p.R453W; 17:39765963-39765963

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.468T>G; p.T156T; 17:39791540-39791540

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.269C>T; p.S90L; 17:39792828-39792828

skinmalignant_melanomaSubstitution - Missense

c.274G>T; p.E92*; 17:39792823-39792823

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.274G>T; p.E92*; 17:39792823-39792823

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1230G>C; p.R410R; 17:39766090-39766090

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.837C>A; p.R279R; 17:39766483-39766483

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.522delT; p.F174fs*86; 17:39791486-39791486

kidneycarcinoma; clear_cell_renal_cell_carcinomaDeletion - Frameshift

c.469C>T; p.Q157*; 17:39791539-39791539

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.965C>T; p.P322L; 17:39766355-39766355

skinmalignant_melanomaSubstitution - Missense

c.965C>T; p.P322L; 17:39766355-39766355

skinmalignant_melanomaSubstitution - Missense

c.1276G>A; p.E426K; 17:39766044-39766044

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.965C>T; p.P322L; 17:39766355-39766355

skinmalignant_melanomaSubstitution - Missense

c.1462C>T; p.R488*; 17:39765858-39765858

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Nonsense

c.1384C>T; p.L462L; 17:39765936-39765936

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.962G>A; p.R321H; 17:39766358-39766358

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.406C>A; p.H136N; 17:39792691-39792691

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.952G>A; p.E318K; 17:39766368-39766368

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemiaSubstitution - Missense

c.952G>A; p.E318K; 17:39766368-39766368

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasmSubstitution - Missense

c.952G>A; p.E318K; 17:39766368-39766368

skinmalignant_melanomaSubstitution - Missense

c.952G>A; p.E318K; 17:39766368-39766368

skinmalignant_melanomaSubstitution - Missense

c.952G>A; p.E318K; 17:39766368-39766368

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.952G>A; p.E318K; 17:39766368-39766368

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myeloid_leukaemiaSubstitution - Missense

c.293A>G; p.N98S; 17:39792804-39792804

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1124G>A; p.R375K; 17:39766196-39766196

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.234A>T; p.G78G; 17:39792863-39792863

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1039A>G; p.T347A; 17:39766281-39766281

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.314T>G; p.V105G; 17:39792783-39792783

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1463G>A; p.R488Q; 17:39765857-39765857

skinmalignant_melanomaSubstitution - Missense

c.509G>A; p.G170E; 17:39791499-39791499

skinmalignant_melanomaSubstitution - Missense

c.1187G>A; p.R396H; 17:39766133-39766133

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1046C>T; p.A349V; 17:39766274-39766274

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.818A>G; p.K273R; 17:39777659-39777659

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.1275C>T; p.Y425Y; 17:39766045-39766045

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1347G>A; p.M449I; 17:39765973-39765973

skinmalignant_melanomaSubstitution - Missense

c.1012A>G; p.I338V; 17:39766308-39766308

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.996G>A; p.S332S; 17:39766324-39766324

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.996G>A; p.S332S; 17:39766324-39766324

breastcarcinomaSubstitution - coding silent

c.557G>A; p.R186K; 17:39791451-39791451

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.135C>T; p.G45G; 17:39829415-39829415

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.664G>A; p.E222K; 17:39788303-39788303

skinmalignant_melanomaSubstitution - Missense

c.673C>T; p.R225C; 17:39788294-39788294

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1296C>G; p.P432P; 17:39766024-39766024

autonomic_ganglianeuroblastomaSubstitution - coding silent

c.997G>A; p.E333K; 17:39766323-39766323

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.207G>A; p.E69E; 17:39792890-39792890

skinmalignant_melanomaSubstitution - coding silent

c.1487C>T; p.S496L; 17:39765833-39765833

skinmalignant_melanomaSubstitution - Missense

c.1380C>G; p.L460L; 17:39765940-39765940

breastcarcinomaSubstitution - coding silent

c.14A>G; p.Q5R; 17:39832145-39832145

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.689G>T; p.S230I; 17:39788278-39788278

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.689G>T; p.S230I; 17:39788278-39788278

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1160C>A; p.T387K; 17:39766160-39766160

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.797G>A; p.R266Q; 17:39777680-39777680

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.82G>C; p.D28H; 17:39829468-39829468

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.82G>C; p.D28H; 17:39829468-39829468

upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.797G>A; p.R266Q; 17:39777680-39777680

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.420T>A; p.H140Q; 17:39792677-39792677

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.444T>C; p.C148C; 17:39791564-39791564

central_nervous_system; braingliomaSubstitution - coding silent

c.1373G>A; p.R458H; 17:39765947-39765947

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1373G>A; p.R458H; 17:39765947-39765947

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.77T>G; p.L26W; 17:39829473-39829473

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.324C>T; p.F108F; 17:39792773-39792773

skinmalignant_melanomaSubstitution - coding silent

c.1336G>A; p.G446R; 17:39765984-39765984

skinmalignant_melanomaSubstitution - Missense

c.1395G>A; p.V465V; 17:39765925-39765925

skinmalignant_melanomaSubstitution - coding silent

c.480C>T; p.N160N; 17:39791528-39791528

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.567C>T; p.L189L; 17:39791441-39791441

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1013T>C; p.I338T; 17:39766307-39766307

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1128C>T; p.G376G; 17:39766192-39766192

upper_aerodigestive_tract; pharynxcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.94delA; p.T32fs*22; 17:39829456-39829456

skin; lower_legmalignant_melanomaDeletion - Frameshift

c.438C>T; p.F146F; 17:39791570-39791570

skin; shouldermalignant_melanomaSubstitution - coding silent

c.920C>T; p.A307V; 17:39766400-39766400

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.272_273insGGGGG; p.E92fs*29; 17:39792824-39792825

haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; acute_lymphoblastic_leukaemiaInsertion - Frameshift

c.516A>C; p.K172N; 17:39791492-39791492

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1314C>T; p.S438S; 17:39766006-39766006

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1505G>A; p.G502E; 17:39765815-39765815

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.233G>A; p.G78E; 17:39792864-39792864

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1314C>T; p.S438S; 17:39766006-39766006

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.663G>A; p.K221K; 17:39788304-39788304

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1160C>T; p.T387M; 17:39766160-39766160

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.43G>A; p.E15K; 17:39832116-39832116

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.412C>T; p.R138*; 17:39792685-39792685

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.836_837GC>CA; p.R279P; 17:39766483-39766484

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.38C>T; p.T13I; 17:39832121-39832121

breastcarcinomaSubstitution - Missense

c.1176C>T; p.N392N; 17:39766144-39766144

skinmalignant_melanomaSubstitution - coding silent

c.1488G>A; p.S496S; 17:39765832-39765832

oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.837C>T; p.R279R; 17:39766483-39766483

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1372C>T; p.R458C; 17:39765948-39765948

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.571G>A; p.G191R; 17:39791437-39791437

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.227C>T; p.P76L; 17:39792870-39792870

urinary_tract; bladdercarcinomaSubstitution - Missense

c.701G>C; p.G234A; 17:39788266-39788266

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1374C>T; p.R458R; 17:39765946-39765946

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.569C>T; p.T190M; 17:39791439-39791439

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1114C>G; p.P372A; 17:39766206-39766206

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.256C>T; p.P86S; 17:39792841-39792841

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.563C>T; p.A188V; 17:39791445-39791445

breastcarcinomaSubstitution - Missense

c.1429C>T; p.R477C; 17:39765891-39765891

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1241G>T; p.G414V; 17:39766079-39766079

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.201A>C; p.R67S; 17:39792896-39792896

skinmalignant_melanomaSubstitution - Missense

c.582G>C; p.R194S; 17:39791426-39791426

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.582G>C; p.R194S; 17:39791426-39791426

large_intestine; coloncarcinomaSubstitution - Missense

c.1169A>G; p.D390G; 17:39766151-39766151

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1014C>G; p.I338M; 17:39766306-39766306

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.375A>G; p.L125L; 17:39792722-39792722

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.58G>T; p.A20S; 17:39832101-39832101

breastcarcinomaSubstitution - Missense

c.1419C>T; p.C473C; 17:39765901-39765901

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.815_816delAG; p.K273fs*4; 17:39777661-39777662

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaDeletion - Frameshift

c.8-1G>A; p.?; 17:39832152-39832152

skinmalignant_melanomaUnknown

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.485T>G; p.L162R; 17:39791523-39791523

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.517C>T; p.P173S; 17:39791491-39791491

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.974_975insC; p.Q325fs*26; 17:39766345-39766346

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasmInsertion - Frameshift

c.974_975insC; p.Q325fs*26; 17:39766345-39766346

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blastic_plasmacytoid_dendritic_cell_neoplasmInsertion - Frameshift

c.140C>T; p.A47V; 17:39829410-39829410

central_nervous_system; braingliomaSubstitution - Missense

c.257C>A; p.P86H; 17:39792840-39792840

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1491T>C; p.S497S; 17:39765829-39765829

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.479A>C; p.N160T; 17:39791529-39791529

haematopoietic_and_lymphoid_tissuelymphoid_neoplasmSubstitution - Missense

c.639G>A; p.Q213Q; 17:39788328-39788328

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.272G>A; p.R91K; 17:39792825-39792825

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1202A>C; p.Y401S; 17:39766118-39766118

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.360C>T; p.C120C; 17:39792737-39792737

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1017C>A; p.S339R; 17:39766303-39766303

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.863C>G; p.S288*; 17:39766457-39766457

NSNSSubstitution - Nonsense

c.904C>T; p.R302C; 17:39766416-39766416

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.530A>G; p.H177R; 17:39791478-39791478

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.479A>G; p.N160S; 17:39791529-39791529

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.718G>A; p.E240K; 17:39777759-39777759

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1333G>A; p.E445K; 17:39765987-39765987

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1333G>A; p.E445K; 17:39765987-39765987

skinmalignant_melanomaSubstitution - Missense

c.1430G>A; p.R477H; 17:39765890-39765890

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.71C>T; p.A24V; 17:39829479-39829479

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.161G>C; p.G54A; 17:39829389-39829389

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.161G>C; p.G54A; 17:39829389-39829389

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.334A>C; p.R112R; 17:39792763-39792763

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1186C>T; p.R396C; 17:39766134-39766134

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.82G>T; p.D28Y; 17:39829468-39829468

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.951C>T; p.A317A; 17:39766369-39766369

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1264C>T; p.P422S; 17:39766056-39766056

skinmalignant_melanomaSubstitution - Missense

c.836G>C; p.R279P; 17:39766484-39766484

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1485C>A; p.F495L; 17:39765835-39765835

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1485C>A; p.F495L; 17:39765835-39765835

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1275C>A; p.Y425*; 17:39766045-39766045

lungcarcinoma; adenocarcinomaSubstitution - Nonsense


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