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 |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
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 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_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2093G>A; p.R698Q; 11:62628856-62628856 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.2257C>T; p.L753L; 11:62627113-62627113 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.983A>G; p.N328S; 11:62632578-62632578 |
liver | carcinoma | Substitution - Missense |
c.983A>G; p.N328S; 11:62632578-62632578 |
liver | carcinoma | Substitution - Missense |
c.516C>T; p.A172A; 11:62634865-62634865 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.205C>G; p.L69V; 11:62639406-62639406 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2756A>G; p.H919R; 11:62625894-62625894 |
liver | carcinoma | Substitution - Missense |
c.676T>C; p.W226R; 11:62633226-62633226 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.141C>A; p.C47*; 11:62639629-62639629 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2526A>T; p.G842G; 11:62626433-62626433 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.288G>T; p.K96N; 11:62639075-62639075 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2443C>T; p.R815*; 11:62626639-62626639 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2443C>T; p.R815*; 11:62626639-62626639 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2795G>T; p.G932V; 11:62625855-62625855 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.925C>T; p.R309C; 11:62632636-62632636 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2186T>A; p.L729Q; 11:62627348-62627348 |
skin | malignant_melanoma | Substitution - Missense |
c.2675T>G; p.V892G; 11:62626115-62626115 |
breast | carcinoma | Substitution - Missense |
c.2524G>T; p.G842*; 11:62626435-62626435 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1070C>G; p.S357*; 11:62631110-62631110 |
ovary | carcinoma; serous_carcinoma | Substitution - Nonsense |
c.1280G>C; p.W427S; 11:62630707-62630707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.692A>G; p.K231R; 11:62633210-62633210 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2472G>T; p.K824N; 11:62626610-62626610 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.464C>T; p.P155L; 11:62634917-62634917 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.624C>T; p.G208G; 11:62633451-62633451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1476C>T; p.T492T; 11:62630416-62630416 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2449C>T; p.R817W; 11:62626633-62626633 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.356T>C; p.L119S; 11:62639007-62639007 |
large_intestine; colon | NS | Substitution - Missense |
c.863A>G; p.E288G; 11:62632698-62632698 |
thyroid | carcinoma | Substitution - Missense |
c.1629G>A; p.M543I; 11:62629922-62629922 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1823C>T; p.S608F; 11:62629599-62629599 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2353C>A; p.H785N; 11:62626904-62626904 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.301T>C; p.F101L; 11:62639062-62639062 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.569C>A; p.S190*; 11:62633506-62633506 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1812C>G; p.F604L; 11:62629610-62629610 |
breast | carcinoma | Substitution - Missense |
c.1620G>A; p.W540*; 11:62629931-62629931 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.294G>T; p.M98I; 11:62639069-62639069 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.618G>T; p.R206S; 11:62633457-62633457 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2450G>A; p.R817Q; 11:62626632-62626632 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1664C>T; p.T555I; 11:62629887-62629887 |
skin | malignant_melanoma | Substitution - Missense |
c.2806G>A; p.A936T; 11:62625844-62625844 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
thyroid | other; neoplasm | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.595G>C; p.A199P; 11:62633480-62633480 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2048G>A; p.R683Q; 11:62628901-62628901 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1467T>C; p.Y489Y; 11:62630425-62630425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.28C>A; p.R10S; 11:62646572-62646572 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2159G>T; p.R720L; 11:62628790-62628790 |
prostate | adenoma | Substitution - Missense |
c.2159G>T; p.R720L; 11:62628790-62628790 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2368A>C; p.T790P; 11:62626889-62626889 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.9G>A; p.A3A; 11:62646591-62646591 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1479G>C; p.R493R; 11:62630413-62630413 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.885G>C; p.L295F; 11:62632676-62632676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1312T>C; p.Y438H; 11:62630675-62630675 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.691A>G; p.K231E; 11:62633211-62633211 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1600G>C; p.A534P; 11:62629951-62629951 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2591G>A; p.R864Q; 11:62626368-62626368 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.461G>A; p.R154Q; 11:62634920-62634920 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.141C>T; p.C47C; 11:62639629-62639629 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.746C>T; p.S249F; 11:62633074-62633074 |
breast | carcinoma | Substitution - Missense |
c.2655A>T; p.T885T; 11:62626135-62626135 |
pleura | pulmonary_blastoma | Substitution - coding silent |
c.2023G>A; p.A675T; 11:62628926-62628926 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2074C>T; p.Q692*; 11:62628875-62628875 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1509G>A; p.W503*; 11:62630383-62630383 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1934G>T; p.G645V; 11:62629196-62629196 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1593+5G>A; p.?; 11:62630192-62630192 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Unknown |
c.2786G>A; p.R929H; 11:62625864-62625864 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>C; p.R110P; 11:62639034-62639034 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.774G>A; p.G258G; 11:62633046-62633046 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139T>C; p.C47R; 11:62639631-62639631 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.139T>C; p.C47R; 11:62639631-62639631 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1285G>A; p.D429N; 11:62630702-62630702 |
skin | malignant_melanoma | Substitution - Missense |
c.1586A>C; p.N529T; 11:62630204-62630204 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.386C>G; p.S129C; 11:62634995-62634995 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2760C>T; p.D920D; 11:62625890-62625890 |
skin | malignant_melanoma | Substitution - coding silent |
c.1864G>A; p.E622K; 11:62629266-62629266 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.79C>T; p.L27L; 11:62639691-62639691 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.388G>T; p.V130F; 11:62634993-62634993 |
breast | carcinoma | Substitution - Missense |
c.1069T>C; p.S357P; 11:62631111-62631111 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1083C>G; p.I361M; 11:62631097-62631097 |
breast | carcinoma | Substitution - Missense |
c.1450C>T; p.R484W; 11:62630442-62630442 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1984C>T; p.R662C; 11:62628965-62628965 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2570G>A; p.R857H; 11:62626389-62626389 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1778G>A; p.G593D; 11:62629644-62629644 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1241A>C; p.Q414P; 11:62630746-62630746 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.625G>T; p.D209Y; 11:62633450-62633450 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1928T>G; p.F643C; 11:62629202-62629202 |
thyroid | other; neoplasm | Substitution - Missense |
c.991G>A; p.G331R; 11:62632570-62632570 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.176C>T; p.P59L; 11:62639435-62639435 |
breast | carcinoma | Substitution - Missense |
c.1447C>A; p.L483M; 11:62630445-62630445 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1693G>T; p.G565C; 11:62629858-62629858 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1786C>T; p.R596C; 11:62629636-62629636 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.998C>T; p.T333I; 11:62631182-62631182 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1949G>T; p.G650V; 11:62629000-62629000 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.2715_2716CC>TT; p.L905>?; 11:62626074-62626075 |
urinary_tract; bladder | carcinoma | Complex |
c.1506C>T; p.C502C; 11:62630386-62630386 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1829G>A; p.R610H; 11:62629593-62629593 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1281G>A; p.W427*; 11:62630706-62630706 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2598A>G; p.S866S; 11:62626361-62626361 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.588C>T; p.G196G; 11:62633487-62633487 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2715C>T; p.L905L; 11:62626075-62626075 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2083G>T; p.D695Y; 11:62628866-62628866 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2290G>T; p.G764C; 11:62627080-62627080 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2290G>T; p.G764C; 11:62627080-62627080 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1710T>A; p.D570E; 11:62629841-62629841 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.539A>G; p.H180R; 11:62634842-62634842 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.469C>T; p.R157C; 11:62634912-62634912 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.323C>T; p.P108L; 11:62639040-62639040 |
skin | malignant_melanoma | Substitution - Missense |
c.1937C>T; p.A646V; 11:62629012-62629012 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.48G>C; p.A16A; 11:62639722-62639722 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.639G>T; p.E213D; 11:62633263-62633263 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2716C>T; p.Q906*; 11:62626074-62626074 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1513+8G>T; p.?; 11:62630371-62630371 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1342C>T; p.Q448*; 11:62630645-62630645 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2649T>C; p.F883F; 11:62626141-62626141 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.893C>T; p.S298F; 11:62632668-62632668 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.970G>A; p.D324N; 11:62632591-62632591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.637G>A; p.E213K; 11:62633265-62633265 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2172T>C; p.P724P; 11:62628777-62628777 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1050G>T; p.Q350H; 11:62631130-62631130 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.215A>G; p.D72G; 11:62639396-62639396 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.308T>C; p.I103T; 11:62639055-62639055 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.308T>C; p.I103T; 11:62639055-62639055 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.308T>C; p.I103T; 11:62639055-62639055 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.215A>G; p.D72G; 11:62639396-62639396 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.364G>A; p.D122N; 11:62638999-62638999 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2030C>T; p.A677V; 11:62628919-62628919 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.253-1G>T; p.?; 11:62639111-62639111 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1415A>C; p.K472T; 11:62630477-62630477 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.1892C>G; p.P631R; 11:62629238-62629238 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.54G>C; p.L18F; 11:62639716-62639716 |
pancreas | carcinoma | Substitution - Missense |
c.2141_2155del15; p.L714_A718delLLYQA; 11:62628794-62628808 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.1369G>C; p.A457P; 11:62630618-62630618 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.833G>C; p.R278P; 11:62632728-62632728 |
breast | carcinoma | Substitution - Missense |
c.1840G>A; p.V614M; 11:62629290-62629290 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.381G>A; p.R127R; 11:62635000-62635000 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1840G>A; p.V614M; 11:62629290-62629290 |
pancreas | carcinoma | Substitution - Missense |
c.1840G>A; p.V614M; 11:62629290-62629290 |
pancreas | carcinoma | Substitution - Missense |
c.2466T>C; p.C822C; 11:62626616-62626616 |
pancreas | carcinoma | Substitution - coding silent |
c.927C>T; p.R309R; 11:62632634-62632634 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.2466T>C; p.C822C; 11:62626616-62626616 |
pancreas | carcinoma | Substitution - coding silent |
c.2127C>T; p.P709P; 11:62628822-62628822 |
breast | carcinoma | Substitution - coding silent |
c.639G>A; p.E213E; 11:62633263-62633263 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.409A>T; p.S137C; 11:62634972-62634972 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.716A>G; p.Y239C; 11:62633186-62633186 |
liver | carcinoma | Substitution - Missense |
c.716A>G; p.Y239C; 11:62633186-62633186 |
liver | carcinoma | Substitution - Missense |
c.1863C>T; p.A621A; 11:62629267-62629267 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1420G>T; p.D474Y; 11:62630472-62630472 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.68delT; p.L23fs*1; 11:62639702-62639702 |
pancreas | carcinoma; acinar_carcinoma | Deletion - Frameshift |
c.1791C>G; p.P597P; 11:62629631-62629631 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2356C>T; p.H786Y; 11:62626901-62626901 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.68delT; p.L23fs*1; 11:62639702-62639702 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.68delT; p.L23fs*1; 11:62639702-62639702 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.397C>T; p.R133C; 11:62634984-62634984 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.1769G>A; p.R590H; 11:62629653-62629653 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.647G>A; p.G216E; 11:62633255-62633255 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.712C>T; p.P238S; 11:62633190-62633190 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1836A>G; p.G612G; 11:62629294-62629294 |
breast | carcinoma | Substitution - coding silent |
c.167G>T; p.G56V; 11:62639444-62639444 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.400G>A; p.D134N; 11:62634981-62634981 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1026G>T; p.L342L; 11:62631154-62631154 |
kidney | other; neoplasm | Substitution - coding silent |
c.877A>C; p.M293L; 11:62632684-62632684 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.270G>A; p.E90E; 11:62639093-62639093 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2460A>C; p.S820S; 11:62626622-62626622 |
breast | carcinoma | Substitution - coding silent |
c.1891C>T; p.P631S; 11:62629239-62629239 |
skin | malignant_melanoma | Substitution - Missense |
c.2020C>T; p.R674W; 11:62628929-62628929 |
thyroid | carcinoma | Substitution - Missense |
c.1413C>G; p.I471M; 11:62630479-62630479 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.997-1G>T; p.?; 11:62631184-62631184 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1060C>T; p.R354C; 11:62631120-62631120 |
skin | malignant_melanoma | Substitution - Missense |
c.2260G>C; p.V754L; 11:62627110-62627110 |
breast | carcinoma | Substitution - Missense |