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

Basic Information

Gene ID

5563

Name

PRKAA2

Synonymous

protein kinase, AMP-activated, alpha 2 catalytic subunit;PRKAA2;protein kinase, AMP-activated, alpha 2 catalytic subunit

Definition

5'-AMP-activated protein kinase catalytic subunit alpha-2|5'-AMP-activated protein kinase, catalytic alpha-2 chain|ACACA kinase|AMP-activated protein kinase alpha-2 subunit variant 2|AMP-activated protein kinase alpha-2 subunit variant 3|AMPK alpha 2|AMPK

Position

1p31

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 0.11.

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.1637T>A; p.L546Q; 1:56707691-56707691

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1062T>C; p.D354D; 1:56704244-56704244

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.546T>C; p.P182P; 1:56693835-56693835

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.813T>C; p.D271D; 1:56703995-56703995

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1262G>T; p.R421L; 1:56704444-56704444

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1002G>T; p.M334I; 1:56704184-56704184

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.715C>T; p.R239C; 1:56696086-56696086

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.715C>T; p.R239C; 1:56696086-56696086

 skinmalignant_melanomaSubstitution - Missense

c.715C>T; p.R239C; 1:56696086-56696086

 skinmalignant_melanomaSubstitution - Missense

c.715C>T; p.R239C; 1:56696086-56696086

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1450T>C; p.S484P; 1:56707504-56707504

 ovaryother; neoplasmSubstitution - Missense

c.111A>G; p.L37L; 1:56674397-56674397

 thyroidother; neoplasmSubstitution - coding silent

c.351G>A; p.R117R; 1:56692378-56692378

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.351G>A; p.R117R; 1:56692378-56692378

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.555C>T; p.I185I; 1:56693844-56693844

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.264delT; p.F90fs*3; 1:56691421-56691421

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.892G>A; p.E298K; 1:56704074-56704074

 skinmalignant_melanomaSubstitution - Missense

c.264delT; p.F90fs*3; 1:56691421-56691421

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.264delT; p.F90fs*3; 1:56691421-56691421

 oesophaguscarcinoma; adenocarcinomaDeletion - Frameshift

c.264delT; p.F90fs*3; 1:56691421-56691421

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1432G>A; p.E478K; 1:56707486-56707486

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1111C>A; p.P371T; 1:56704293-56704293

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1111C>A; p.P371T; 1:56704293-56704293

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1326A>C; p.R442S; 1:56706124-56706124

 biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.1111C>A; p.P371T; 1:56704293-56704293

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.502G>A; p.E168K; 1:56693791-56693791

 skinmalignant_melanomaSubstitution - Missense

c.1518T>C; p.T506T; 1:56707572-56707572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1518T>C; p.T506T; 1:56707572-56707572

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.502G>A; p.E168K; 1:56693791-56693791

 skinmalignant_melanomaSubstitution - Missense

c.246G>A; p.V82V; 1:56691403-56691403

 skinmalignant_melanomaSubstitution - coding silent

c.1107G>T; p.R369S; 1:56704289-56704289

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1397T>G; p.L466R; 1:56706195-56706195

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1315C>T; p.R439C; 1:56706113-56706113

 skinmalignant_melanomaSubstitution - Missense

c.1507G>C; p.D503H; 1:56707561-56707561

 breastcarcinomaSubstitution - Missense

c.522C>T; p.C174C; 1:56693811-56693811

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.237-1G>T; p.?; 1:56691393-56691393

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1353G>A; p.V451V; 1:56706151-56706151

 skinmalignant_melanomaSubstitution - coding silent

c.1567A>G; p.S523G; 1:56707621-56707621

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1567A>G; p.S523G; 1:56707621-56707621

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1567A>G; p.S523G; 1:56707621-56707621

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1567A>G; p.S523G; 1:56707621-56707621

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.157C>T; p.R53C; 1:56674443-56674443

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1100C>T; p.P367L; 1:56704282-56704282

 skinmalignant_melanomaSubstitution - Missense

c.1175_1176CC>TT; p.P392L; 1:56704357-56704358

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1130G>A; p.S377N; 1:56704312-56704312

 skinmalignant_melanomaSubstitution - Missense

c.1272G>A; p.K424K; 1:56704454-56704454

 livercarcinomaSubstitution - coding silent

c.1272G>A; p.K424K; 1:56704454-56704454

 livercarcinomaSubstitution - coding silent

c.1096C>T; p.H366Y; 1:56704278-56704278

 skinmalignant_melanomaSubstitution - Missense

c.1616T>G; p.F539C; 1:56707670-56707670

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.784_785delAT; p.I262fs*4; 1:56696155-56696156

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1490G>A; p.R497K; 1:56707544-56707544

 skinmalignant_melanomaSubstitution - Missense

c.1494A>G; p.P498P; 1:56707548-56707548

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.124G>C; p.V42L; 1:56674410-56674410

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.494C>T; p.S165L; 1:56693783-56693783

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1249G>T; p.A417S; 1:56704431-56704431

 ovaryother; neoplasmSubstitution - Missense

c.1542_1543delCT; p.L516fs*25; 1:56707596-56707597

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1597G>T; p.G533C; 1:56707651-56707651

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1556C>T; p.S519F; 1:56707610-56707610

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1556C>T; p.S519F; 1:56707610-56707610

 pancreascarcinomaSubstitution - Missense

c.1611G>A; p.M537I; 1:56707665-56707665

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1611G>A; p.M537I; 1:56707665-56707665

 skinmalignant_melanomaSubstitution - Missense

c.1397T>C; p.L466P; 1:56706195-56706195

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.825C>T; p.Y275Y; 1:56704007-56704007

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.842C>A; p.P281H; 1:56704024-56704024

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1359G>A; p.M453I; 1:56706157-56706157

 skinmalignant_melanomaSubstitution - Missense

c.616G>T; p.A206S; 1:56695987-56695987

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1334C>T; p.P445L; 1:56706132-56706132

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.943G>A; p.D315N; 1:56704125-56704125

 skinmalignant_melanomaSubstitution - Missense

c.215G>A; p.R72H; 1:56674501-56674501

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1022A>C; p.Y341S; 1:56704204-56704204

 breastcarcinomaSubstitution - Missense

c.510G>C; p.L170L; 1:56693799-56693799

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1396C>G; p.L466V; 1:56706194-56706194

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1527C>T; p.S509S; 1:56707581-56707581

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.685G>A; p.G229S; 1:56696056-56696056

 skinmalignant_melanomaSubstitution - Missense

c.474C>T; p.F158F; 1:56692501-56692501

 skinmalignant_melanomaSubstitution - coding silent

c.474C>T; p.F158F; 1:56692501-56692501

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.685G>A; p.G229S; 1:56696056-56696056

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.474C>T; p.F158F; 1:56692501-56692501

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.619C>T; p.L207F; 1:56695990-56695990

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.619C>T; p.L207F; 1:56695990-56695990

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1381G>A; p.D461N; 1:56706179-56706179

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.992G>A; p.R331Q; 1:56704174-56704174

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.950A>G; p.Q317R; 1:56704132-56704132

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.950A>G; p.Q317R; 1:56704132-56704132

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.950A>G; p.Q317R; 1:56704132-56704132

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.574G>T; p.G192C; 1:56695945-56695945

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.703G>A; p.E235K; 1:56696074-56696074

 skinmalignant_melanomaSubstitution - Missense

c.1568G>A; p.S523N; 1:56707622-56707622

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.223C>T; p.H75Y; 1:56674509-56674509

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.475G>A; p.G159R; 1:56692502-56692502

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1130G>T; p.S377I; 1:56704312-56704312

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.346G>T; p.A116S; 1:56692373-56692373

 oesophaguscarcinomaSubstitution - Missense

c.550G>A; p.V184I; 1:56693839-56693839

 skinmalignant_melanomaSubstitution - Missense

c.1270delA; p.K424fs*9; 1:56704452-56704452

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaDeletion - Frameshift

c.1373A>G; p.Y458C; 1:56706171-56706171

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.262G>T; p.D88Y; 1:56691419-56691419

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.262G>T; p.D88Y; 1:56691419-56691419

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.262G>T; p.D88Y; 1:56691419-56691419

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.95-2A>T; p.?; 1:56674379-56674379

 kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.1325G>A; p.R442K; 1:56706123-56706123

 skinmalignant_melanomaSubstitution - Missense

c.1131C>T; p.S377S; 1:56704313-56704313

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1325G>A; p.R442K; 1:56706123-56706123

 skinmalignant_melanomaSubstitution - Missense

c.1220G>A; p.R407Q; 1:56704402-56704402

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1220G>A; p.R407Q; 1:56704402-56704402

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1220G>A; p.R407Q; 1:56704402-56704402

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1220G>A; p.R407Q; 1:56704402-56704402

 stomachadenocarcinomaSubstitution - Missense

c.150G>A; p.Q50Q; 1:56674436-56674436

 skinmalignant_melanomaSubstitution - coding silent

c.270T>C; p.F90F; 1:56691427-56691427

 skinmalignant_melanomaSubstitution - coding silent

c.158G>A; p.R53H; 1:56674444-56674444

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.237-1G>A; p.?; 1:56691393-56691393

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.1613_1614insT; p.E541fs*1; 1:56707667-56707668

 large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.1196A>G; p.K399R; 1:56704378-56704378

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.366G>A; p.Q122Q; 1:56692393-56692393

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1348T>C; p.Y450H; 1:56706146-56706146

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.902A>T; p.E301V; 1:56704084-56704084

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.690C>T; p.V230V; 1:56696061-56696061

 skinmalignant_melanomaSubstitution - coding silent

c.476G>T; p.G159V; 1:56693765-56693765

 breastcarcinomaSubstitution - Missense

c.271A>G; p.M91V; 1:56691428-56691428

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1614delT; p.F540fs*7; 1:56707668-56707668

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1614delT; p.F540fs*7; 1:56707668-56707668

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.832C>T; p.P278S; 1:56704014-56704014

 skinmalignant_melanomaSubstitution - Missense

c.431A>T; p.N144I; 1:56692458-56692458

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.845C>T; p.S282F; 1:56704027-56704027

 skinmalignant_melanomaSubstitution - Missense

c.1107G>A; p.R369R; 1:56704289-56704289

 skinmalignant_melanomaSubstitution - coding silent

c.231C>G; p.I77M; 1:56674517-56674517

 oesophaguscarcinomaSubstitution - Missense

c.188G>T; p.R63L; 1:56674474-56674474

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.871G>A; p.E291K; 1:56704053-56704053

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.871G>A; p.E291K; 1:56704053-56704053

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.299A>C; p.E100A; 1:56691456-56691456

 kidneyother; neoplasmSubstitution - Missense

c.1063A>G; p.S355G; 1:56704245-56704245

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.134A>G; p.K45R; 1:56674420-56674420

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.617C>T; p.A206V; 1:56695988-56695988

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1544C>T; p.S515F; 1:56707598-56707598

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1501A>T; p.S501C; 1:56707555-56707555

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1445G>C; p.G482A; 1:56707499-56707499

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1293G>T; p.K431N; 1:56704475-56704475

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.853G>A; p.A285T; 1:56704035-56704035

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1081C>A; p.P361T; 1:56704263-56704263

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.901G>A; p.E301K; 1:56704083-56704083

 skinmalignant_melanomaSubstitution - Missense

c.859G>A; p.V287I; 1:56704041-56704041

 breastcarcinomaSubstitution - Missense

c.901G>A; p.E301K; 1:56704083-56704083

 skinmalignant_melanomaSubstitution - Missense

c.859G>A; p.V287I; 1:56704041-56704041

 pancreascarcinomaSubstitution - Missense

c.1296A>G; p.V432V; 1:56706094-56706094

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.908C>T; p.T303I; 1:56704090-56704090

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.733_747del15; p.L245_L249delLMHML; 1:56696104-56696118

 breastcarcinomaDeletion - In frame

c.716G>A; p.R239H; 1:56696087-56696087

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.716G>A; p.R239H; 1:56696087-56696087

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1135A>T; p.K379*; 1:56704317-56704317

 skinmalignant_melanomaSubstitution - Nonsense

c.366G>T; p.Q122H; 1:56692393-56692393

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.376G>A; p.A126T; 1:56692403-56692403

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.97G>T; p.G33*; 1:56674383-56674383

 autonomic_ganglianeuroblastomaSubstitution - Nonsense

c.1106G>T; p.R369M; 1:56704288-56704288

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1656T>C; p.R552R; 1:56707710-56707710

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.931T>G; p.L311V; 1:56704113-56704113

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.897A>G; p.K299K; 1:56704079-56704079

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.897A>G; p.K299K; 1:56704079-56704079

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.1050T>G; p.S350S; 1:56704232-56704232

 autonomic_ganglianeuroblastomaSubstitution - coding silent

c.1423G>A; p.E475K; 1:56707477-56707477

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1099C>A; p.P367T; 1:56704281-56704281

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.214C>T; p.R72C; 1:56674500-56674500

 skinmalignant_melanomaSubstitution - Missense

c.1072C>T; p.H358Y; 1:56704254-56704254

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.214C>T; p.R72C; 1:56674500-56674500

 skinmalignant_melanomaSubstitution - Missense

c.719C>A; p.S240Y; 1:56696090-56696090

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.214C>T; p.R72C; 1:56674500-56674500

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.290C>T; p.S97F; 1:56691447-56691447

 ovaryother; neoplasmSubstitution - Missense

c.530C>T; p.P177L; 1:56693819-56693819

 skinmalignant_melanomaSubstitution - Missense

c.1056G>A; p.M352I; 1:56704238-56704238

 skinmalignant_melanomaSubstitution - Missense

c.767G>A; p.R256Q; 1:56696138-56696138

 skinmalignant_melanomaSubstitution - Missense

c.1538C>T; p.S513F; 1:56707592-56707592

 skinmalignant_melanomaSubstitution - Missense

c.350G>T; p.R117M; 1:56692377-56692377

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.767G>A; p.R256Q; 1:56696138-56696138

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1056G>A; p.M352I; 1:56704238-56704238

 skinmalignant_melanomaSubstitution - Missense

c.1493C>T; p.P498L; 1:56707547-56707547

 skinmalignant_melanomaSubstitution - Missense

c.1229G>A; p.S410N; 1:56704411-56704411

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1279G>A; p.D427N; 1:56704461-56704461

 skinmalignant_melanomaSubstitution - Missense

c.523G>C; p.G175R; 1:56693812-56693812

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.788G>A; p.R263K; 1:56696159-56696159

 skinmalignant_melanomaSubstitution - Missense

c.523G>A; p.G175R; 1:56693812-56693812

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.523G>A; p.G175R; 1:56693812-56693812

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.838G>A; p.D280N; 1:56704020-56704020

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.636C>T; p.L212L; 1:56696007-56696007

 skinmalignant_melanomaSubstitution - coding silent

c.1516A>G; p.T506A; 1:56707570-56707570

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1516A>G; p.T506A; 1:56707570-56707570

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.429G>A; p.E143E; 1:56692456-56692456

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1516A>G; p.T506A; 1:56707570-56707570

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1234_1235CC>TT; p.P412L; 1:56704416-56704417

 skinmalignant_melanomaSubstitution - Missense

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