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

Basic Information

Gene ID

23193

Name

GANAB

Synonymous

glucosidase, alpha; neutral AB;GANAB;glucosidase, alpha; neutral AB

Definition

HEL-S-164nA|alpha glucosidase II alpha subunit|alpha-glucosidase 2|epididymis secretory sperm binding protein Li 164nA|glucosidase II subunit alpha|neutral alpha-glucosidase AB

Position

11q12.3

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 0.10.

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.2093G>A; p.R698Q; 11:62628856-62628856

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2093G>A; p.R698Q; 11:62628856-62628856

large_intestine; coloncarcinomaSubstitution - Missense

c.2257C>T; p.L753L; 11:62627113-62627113

pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.983A>G; p.N328S; 11:62632578-62632578

livercarcinomaSubstitution - Missense

c.983A>G; p.N328S; 11:62632578-62632578

livercarcinomaSubstitution - Missense

c.516C>T; p.A172A; 11:62634865-62634865

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.205C>G; p.L69V; 11:62639406-62639406

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2756A>G; p.H919R; 11:62625894-62625894

livercarcinomaSubstitution - Missense

c.676T>C; p.W226R; 11:62633226-62633226

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.141C>A; p.C47*; 11:62639629-62639629

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2526A>T; p.G842G; 11:62626433-62626433

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.288G>T; p.K96N; 11:62639075-62639075

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2443C>T; p.R815*; 11:62626639-62626639

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2443C>T; p.R815*; 11:62626639-62626639

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2795G>T; p.G932V; 11:62625855-62625855

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.925C>T; p.R309C; 11:62632636-62632636

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2186T>A; p.L729Q; 11:62627348-62627348

skinmalignant_melanomaSubstitution - Missense

c.2675T>G; p.V892G; 11:62626115-62626115

breastcarcinomaSubstitution - Missense

c.2524G>T; p.G842*; 11:62626435-62626435

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1070C>G; p.S357*; 11:62631110-62631110

ovarycarcinoma; serous_carcinomaSubstitution - Nonsense

c.1280G>C; p.W427S; 11:62630707-62630707

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.692A>G; p.K231R; 11:62633210-62633210

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2472G>T; p.K824N; 11:62626610-62626610

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.464C>T; p.P155L; 11:62634917-62634917

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.624C>T; p.G208G; 11:62633451-62633451

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1476C>T; p.T492T; 11:62630416-62630416

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2449C>T; p.R817W; 11:62626633-62626633

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.356T>C; p.L119S; 11:62639007-62639007

large_intestine; colonNSSubstitution - Missense

c.863A>G; p.E288G; 11:62632698-62632698

thyroidcarcinomaSubstitution - Missense

c.1629G>A; p.M543I; 11:62629922-62629922

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1823C>T; p.S608F; 11:62629599-62629599

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2353C>A; p.H785N; 11:62626904-62626904

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.301T>C; p.F101L; 11:62639062-62639062

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.569C>A; p.S190*; 11:62633506-62633506

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.1812C>G; p.F604L; 11:62629610-62629610

breastcarcinomaSubstitution - Missense

c.1620G>A; p.W540*; 11:62629931-62629931

lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.294G>T; p.M98I; 11:62639069-62639069

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.618G>T; p.R206S; 11:62633457-62633457

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2450G>A; p.R817Q; 11:62626632-62626632

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1664C>T; p.T555I; 11:62629887-62629887

skinmalignant_melanomaSubstitution - Missense

c.2806G>A; p.A936T; 11:62625844-62625844

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

thyroidother; neoplasmSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.595G>C; p.A199P; 11:62633480-62633480

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2048G>A; p.R683Q; 11:62628901-62628901

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1467T>C; p.Y489Y; 11:62630425-62630425

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.28C>A; p.R10S; 11:62646572-62646572

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2159G>T; p.R720L; 11:62628790-62628790

prostateadenomaSubstitution - Missense

c.2159G>T; p.R720L; 11:62628790-62628790

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2368A>C; p.T790P; 11:62626889-62626889

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.9G>A; p.A3A; 11:62646591-62646591

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1479G>C; p.R493R; 11:62630413-62630413

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.885G>C; p.L295F; 11:62632676-62632676

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1312T>C; p.Y438H; 11:62630675-62630675

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.691A>G; p.K231E; 11:62633211-62633211

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1600G>C; p.A534P; 11:62629951-62629951

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2591G>A; p.R864Q; 11:62626368-62626368

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.461G>A; p.R154Q; 11:62634920-62634920

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.141C>T; p.C47C; 11:62639629-62639629

ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.746C>T; p.S249F; 11:62633074-62633074

breastcarcinomaSubstitution - Missense

c.2655A>T; p.T885T; 11:62626135-62626135

pleurapulmonary_blastomaSubstitution - coding silent

c.2023G>A; p.A675T; 11:62628926-62628926

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2074C>T; p.Q692*; 11:62628875-62628875

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1509G>A; p.W503*; 11:62630383-62630383

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1934G>T; p.G645V; 11:62629196-62629196

prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1593+5G>A; p.?; 11:62630192-62630192

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaUnknown

c.2786G>A; p.R929H; 11:62625864-62625864

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.329G>C; p.R110P; 11:62639034-62639034

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.774G>A; p.G258G; 11:62633046-62633046

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.139T>C; p.C47R; 11:62639631-62639631

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.139T>C; p.C47R; 11:62639631-62639631

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1285G>A; p.D429N; 11:62630702-62630702

skinmalignant_melanomaSubstitution - Missense

c.1586A>C; p.N529T; 11:62630204-62630204

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.386C>G; p.S129C; 11:62634995-62634995

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2760C>T; p.D920D; 11:62625890-62625890

skinmalignant_melanomaSubstitution - coding silent

c.1864G>A; p.E622K; 11:62629266-62629266

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.79C>T; p.L27L; 11:62639691-62639691

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.388G>T; p.V130F; 11:62634993-62634993

breastcarcinomaSubstitution - Missense

c.1069T>C; p.S357P; 11:62631111-62631111

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1083C>G; p.I361M; 11:62631097-62631097

breastcarcinomaSubstitution - Missense

c.1450C>T; p.R484W; 11:62630442-62630442

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1984C>T; p.R662C; 11:62628965-62628965

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2570G>A; p.R857H; 11:62626389-62626389

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1778G>A; p.G593D; 11:62629644-62629644

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1241A>C; p.Q414P; 11:62630746-62630746

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.625G>T; p.D209Y; 11:62633450-62633450

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1928T>G; p.F643C; 11:62629202-62629202

thyroidother; neoplasmSubstitution - Missense

c.991G>A; p.G331R; 11:62632570-62632570

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.176C>T; p.P59L; 11:62639435-62639435

breastcarcinomaSubstitution - Missense

c.1447C>A; p.L483M; 11:62630445-62630445

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1693G>T; p.G565C; 11:62629858-62629858

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1786C>T; p.R596C; 11:62629636-62629636

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.998C>T; p.T333I; 11:62631182-62631182

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1949G>T; p.G650V; 11:62629000-62629000

lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.2715_2716CC>TT; p.L905>?; 11:62626074-62626075

urinary_tract; bladdercarcinomaComplex

c.1506C>T; p.C502C; 11:62630386-62630386

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1829G>A; p.R610H; 11:62629593-62629593

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1281G>A; p.W427*; 11:62630706-62630706

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2598A>G; p.S866S; 11:62626361-62626361

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.588C>T; p.G196G; 11:62633487-62633487

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2715C>T; p.L905L; 11:62626075-62626075

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2083G>T; p.D695Y; 11:62628866-62628866

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2290G>T; p.G764C; 11:62627080-62627080

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2290G>T; p.G764C; 11:62627080-62627080

large_intestine; coloncarcinomaSubstitution - Missense

c.1710T>A; p.D570E; 11:62629841-62629841

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.539A>G; p.H180R; 11:62634842-62634842

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.469C>T; p.R157C; 11:62634912-62634912

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.323C>T; p.P108L; 11:62639040-62639040

skinmalignant_melanomaSubstitution - Missense

c.1937C>T; p.A646V; 11:62629012-62629012

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.48G>C; p.A16A; 11:62639722-62639722

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.639G>T; p.E213D; 11:62633263-62633263

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2716C>T; p.Q906*; 11:62626074-62626074

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.1513+8G>T; p.?; 11:62630371-62630371

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1342C>T; p.Q448*; 11:62630645-62630645

urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.2649T>C; p.F883F; 11:62626141-62626141

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.893C>T; p.S298F; 11:62632668-62632668

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.970G>A; p.D324N; 11:62632591-62632591

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.637G>A; p.E213K; 11:62633265-62633265

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2172T>C; p.P724P; 11:62628777-62628777

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1050G>T; p.Q350H; 11:62631130-62631130

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.215A>G; p.D72G; 11:62639396-62639396

urinary_tract; bladdercarcinomaSubstitution - Missense

c.308T>C; p.I103T; 11:62639055-62639055

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.308T>C; p.I103T; 11:62639055-62639055

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.308T>C; p.I103T; 11:62639055-62639055

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.215A>G; p.D72G; 11:62639396-62639396

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.364G>A; p.D122N; 11:62638999-62638999

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2030C>T; p.A677V; 11:62628919-62628919

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.253-1G>T; p.?; 11:62639111-62639111

stomachcarcinoma; adenocarcinomaUnknown

c.1415A>C; p.K472T; 11:62630477-62630477

skin; legmalignant_melanomaSubstitution - Missense

c.1892C>G; p.P631R; 11:62629238-62629238

central_nervous_system; braingliomaSubstitution - Missense

c.54G>C; p.L18F; 11:62639716-62639716

pancreascarcinomaSubstitution - Missense

c.2141_2155del15; p.L714_A718delLLYQA; 11:62628794-62628808

large_intestinecarcinoma; adenocarcinomaDeletion - In frame

c.1369G>C; p.A457P; 11:62630618-62630618

urinary_tract; bladdercarcinomaSubstitution - Missense

c.833G>C; p.R278P; 11:62632728-62632728

breastcarcinomaSubstitution - Missense

c.1840G>A; p.V614M; 11:62629290-62629290

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.381G>A; p.R127R; 11:62635000-62635000

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1840G>A; p.V614M; 11:62629290-62629290

pancreascarcinomaSubstitution - Missense

c.1840G>A; p.V614M; 11:62629290-62629290

pancreascarcinomaSubstitution - Missense

c.2466T>C; p.C822C; 11:62626616-62626616

pancreascarcinomaSubstitution - coding silent

c.927C>T; p.R309R; 11:62632634-62632634

central_nervous_system; braingliomaSubstitution - coding silent

c.2466T>C; p.C822C; 11:62626616-62626616

pancreascarcinomaSubstitution - coding silent

c.2127C>T; p.P709P; 11:62628822-62628822

breastcarcinomaSubstitution - coding silent

c.639G>A; p.E213E; 11:62633263-62633263

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.409A>T; p.S137C; 11:62634972-62634972

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.716A>G; p.Y239C; 11:62633186-62633186

livercarcinomaSubstitution - Missense

c.716A>G; p.Y239C; 11:62633186-62633186

livercarcinomaSubstitution - Missense

c.1863C>T; p.A621A; 11:62629267-62629267

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1420G>T; p.D474Y; 11:62630472-62630472

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.68delT; p.L23fs*1; 11:62639702-62639702

pancreascarcinoma; acinar_carcinomaDeletion - Frameshift

c.1791C>G; p.P597P; 11:62629631-62629631

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2356C>T; p.H786Y; 11:62626901-62626901

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.68delT; p.L23fs*1; 11:62639702-62639702

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.68delT; p.L23fs*1; 11:62639702-62639702

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.397C>T; p.R133C; 11:62634984-62634984

skin; neckmalignant_melanomaSubstitution - Missense

c.1769G>A; p.R590H; 11:62629653-62629653

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.647G>A; p.G216E; 11:62633255-62633255

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.712C>T; p.P238S; 11:62633190-62633190

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1836A>G; p.G612G; 11:62629294-62629294

breastcarcinomaSubstitution - coding silent

c.167G>T; p.G56V; 11:62639444-62639444

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.400G>A; p.D134N; 11:62634981-62634981

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1026G>T; p.L342L; 11:62631154-62631154

kidneyother; neoplasmSubstitution - coding silent

c.877A>C; p.M293L; 11:62632684-62632684

central_nervous_system; braingliomaSubstitution - Missense

c.270G>A; p.E90E; 11:62639093-62639093

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2460A>C; p.S820S; 11:62626622-62626622

breastcarcinomaSubstitution - coding silent

c.1891C>T; p.P631S; 11:62629239-62629239

skinmalignant_melanomaSubstitution - Missense

c.2020C>T; p.R674W; 11:62628929-62628929

thyroidcarcinomaSubstitution - Missense

c.1413C>G; p.I471M; 11:62630479-62630479

cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.997-1G>T; p.?; 11:62631184-62631184

endometriumcarcinoma; endometrioid_carcinomaUnknown

c.1060C>T; p.R354C; 11:62631120-62631120

skinmalignant_melanomaSubstitution - Missense

c.2260G>C; p.V754L; 11:62627110-62627110

breastcarcinomaSubstitution - Missense


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