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

Basic Information

Gene ID

6599

Name

SMARCC1

Synonymous

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1;SMARCC1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1

Definition

BRG1-associated factor 155|SWI/SNF complex 155 kDa subunit|SWI/SNF complex subunit SMARCC1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily C member 1|chromatin remodeling complex BAF155 subunit|mammalian chromatin remode

Position

3p21.31

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.2415T>A; p.D805E; 3:47636098-47636098

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2090G>A; p.S697N; 3:47662402-47662402

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1657A>G; p.T553A; 3:47676697-47676697

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.250C>T; p.L84F; 3:47772882-47772882

skinmalignant_melanomaSubstitution - Missense

c.2472G>A; p.V824V; 3:47636041-47636041

pancreascarcinomaSubstitution - coding silent

c.325T>C; p.F109L; 3:47745984-47745984

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2518G>T; p.E840*; 3:47635318-47635318

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.2518G>T; p.E840*; 3:47635318-47635318

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1696C>A; p.L566I; 3:47676658-47676658

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1075A>G; p.K359E; 3:47701368-47701368

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.732C>T; p.V244V; 3:47714475-47714475

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.3213C>T; p.N1071N; 3:47590668-47590668

prostatecarcinomaSubstitution - coding silent

c.1205G>T; p.G402V; 3:47693261-47693261

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2669G>C; p.R890T; 3:47622319-47622319

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1310T>G; p.L437R; 3:47686124-47686124

skinmalignant_melanomaSubstitution - Missense

c.3181T>G; p.L1061V; 3:47590700-47590700

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.788G>A; p.W263*; 3:47714419-47714419

skinmalignant_melanomaSubstitution - Nonsense

c.2490A>G; p.S830S; 3:47636023-47636023

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.3128C>T; p.P1043L; 3:47590753-47590753

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3274C>T; p.P1092S; 3:47588253-47588253

skinmalignant_melanomaSubstitution - Missense

c.1198G>C; p.V400L; 3:47693268-47693268

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.3010C>T; p.H1004Y; 3:47610099-47610099

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1840-3T>C; p.?; 3:47670720-47670720

kidneycarcinoma; clear_cell_renal_cell_carcinomaUnknown

c.132G>C; p.E44D; 3:47781666-47781666

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2759T>G; p.I920S; 3:47622229-47622229

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2072C>T; p.S691L; 3:47662420-47662420

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.690A>G; p.L230L; 3:47720692-47720692

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1364C>T; p.A455V; 3:47686070-47686070

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1660C>T; p.P554S; 3:47676694-47676694

skinmalignant_melanomaSubstitution - Missense

c.3131C>T; p.S1044F; 3:47590750-47590750

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2860G>A; p.A954T; 3:47610249-47610249

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2860G>A; p.A954T; 3:47610249-47610249

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1957A>G; p.T653A; 3:47662535-47662535

central_nervous_system; braingliomaSubstitution - Missense

c.2424A>C; p.Q808H; 3:47636089-47636089

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2845T>C; p.Y949H; 3:47610264-47610264

pancreascarcinomaSubstitution - Missense

c.1497T>C; p.R499R; 3:47678272-47678272

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3252A>G; p.P1084P; 3:47588275-47588275

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1894C>G; p.L632V; 3:47670663-47670663

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.402-3delT; p.?; 3:47738113-47738113

pancreascarcinoma; acinar_carcinomaUnknown

c.760G>A; p.E254K; 3:47714447-47714447

urinary_tract; bladdercarcinomaSubstitution - Missense

c.2356G>C; p.D786H; 3:47638745-47638745

stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.433A>T; p.M145L; 3:47738079-47738079

kidneyother; neoplasmSubstitution - Missense

c.2242T>C; p.S748P; 3:47661372-47661372

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.443A>T; p.N148I; 3:47738069-47738069

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2444delA; p.N815fs*10; 3:47636069-47636069

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1003A>G; p.T335A; 3:47706446-47706446

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1535G>A; p.R512Q; 3:47678234-47678234

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.781A>C; p.K261Q; 3:47714426-47714426

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2121C>T; p.D707D; 3:47662371-47662371

skinmalignant_melanomaSubstitution - coding silent

c.2051A>G; p.Q684R; 3:47662441-47662441

pancreascarcinomaSubstitution - Missense

c.2051A>G; p.Q684R; 3:47662441-47662441

pancreascarcinomaSubstitution - Missense

c.2051A>G; p.Q684R; 3:47662441-47662441

pancreascarcinomaSubstitution - Missense

c.2168C>T; p.S723F; 3:47661446-47661446

skin; mucosalmalignant_melanomaSubstitution - Missense

c.2120A>T; p.D707V; 3:47662372-47662372

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.135C>T; p.S45S; 3:47781663-47781663

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.498delC; p.R167fs*12; 3:47736112-47736112

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.1165+1G>T; p.?; 3:47701277-47701277

lungcarcinoma; squamous_cell_carcinomaUnknown

c.1180G>T; p.D394Y; 3:47693286-47693286

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2040T>G; p.P680P; 3:47662452-47662452

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1197T>C; p.P399P; 3:47693269-47693269

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2016G>T; p.E672D; 3:47662476-47662476

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3043+4A>T; p.?; 3:47610062-47610062

oesophaguscarcinoma; adenocarcinomaUnknown

c.2541A>G; p.E847E; 3:47635295-47635295

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2175C>T; p.V725V; 3:47661439-47661439

skin; head_neckmalignant_melanoma; superficial_spreadingSubstitution - coding silent

c.2682C>T; p.S894S; 3:47622306-47622306

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2175C>T; p.V725V; 3:47661439-47661439

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2530A>G; p.T844A; 3:47635306-47635306

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2023G>A; p.D675N; 3:47662469-47662469

breastcarcinomaSubstitution - Missense

c.994C>T; p.P332S; 3:47706455-47706455

skinmalignant_melanomaSubstitution - Missense

c.1545G>C; p.L515F; 3:47678224-47678224

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1708C>T; p.H570Y; 3:47676646-47676646

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1845A>G; p.K615K; 3:47670712-47670712

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1845A>G; p.K615K; 3:47670712-47670712

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1845A>G; p.K615K; 3:47670712-47670712

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1714C>T; p.R572*; 3:47676640-47676640

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1496G>A; p.R499H; 3:47678273-47678273

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2990C>T; p.P997L; 3:47610119-47610119

skinmalignant_melanomaSubstitution - Missense

c.2817C>T; p.R939R; 3:47610292-47610292

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2317C>G; p.L773V; 3:47661297-47661297

skinmalignant_melanomaSubstitution - Missense

c.2441_2444delAAAA; p.K814fs*10; 3:47636069-47636072

lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.1689delC; p.S564fs*20; 3:47676665-47676665

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.440G>A; p.R147H; 3:47738072-47738072

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2857C>T; p.R953*; 3:47610252-47610252

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1687C>T; p.P563S; 3:47676667-47676667

livercarcinomaSubstitution - Missense

c.2332G>C; p.E778Q; 3:47638769-47638769

breastcarcinomaSubstitution - Missense

c.1687C>T; p.P563S; 3:47676667-47676667

livercarcinomaSubstitution - Missense

c.1348A>G; p.I450V; 3:47686086-47686086

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.539T>C; p.L180S; 3:47736071-47736071

skinmalignant_melanomaSubstitution - Missense

c.2171G>A; p.R724Q; 3:47661443-47661443

breastcarcinomaSubstitution - Missense

c.2674A>G; p.I892V; 3:47622314-47622314

kidneyother; neoplasmSubstitution - Missense

c.1495C>T; p.R499C; 3:47678274-47678274

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1495C>T; p.R499C; 3:47678274-47678274

skinmalignant_melanomaSubstitution - Missense

c.1495C>T; p.R499C; 3:47678274-47678274

skinmalignant_melanomaSubstitution - Missense

c.1495C>T; p.R499C; 3:47678274-47678274

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1495C>T; p.R499C; 3:47678274-47678274

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.2476G>A; p.E826K; 3:47636037-47636037

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2476G>A; p.E826K; 3:47636037-47636037

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1928A>T; p.N643I; 3:47662564-47662564

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1134C>T; p.P378P; 3:47701309-47701309

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1928A>T; p.N643I; 3:47662564-47662564

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1928A>T; p.N643I; 3:47662564-47662564

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.2531C>T; p.T844I; 3:47635305-47635305

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2607C>G; p.A869A; 3:47635229-47635229

breastcarcinomaSubstitution - coding silent

c.1554T>C; p.D518D; 3:47678215-47678215

breastcarcinomaSubstitution - coding silent

c.2211T>C; p.H737H; 3:47661403-47661403

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.879T>C; p.P293P; 3:47710722-47710722

large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.1929C>T; p.N643N; 3:47662563-47662563

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1250C>T; p.T417I; 3:47689400-47689400

skinmalignant_melanomaSubstitution - Missense

c.3003G>C; p.L1001L; 3:47610106-47610106

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.1298G>C; p.R433P; 3:47686136-47686136

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3003G>C; p.L1001L; 3:47610106-47610106

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1679C>T; p.A560V; 3:47676675-47676675

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2426A>C; p.D809A; 3:47636087-47636087

thyroidother; neoplasmSubstitution - Missense

c.1276C>T; p.P426S; 3:47686158-47686158

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1276C>T; p.P426S; 3:47686158-47686158

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.862G>A; p.D288N; 3:47710739-47710739

bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.1869G>A; p.W623*; 3:47670688-47670688

stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.2021C>T; p.S674L; 3:47662471-47662471

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.3305C>T; p.S1102L; 3:47588222-47588222

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2506G>A; p.E836K; 3:47635330-47635330

breastcarcinomaSubstitution - Missense

c.2059_2060CC>TT; p.P687F; 3:47662432-47662433

skinmalignant_melanomaSubstitution - Missense

c.1916A>G; p.K639R; 3:47662576-47662576

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1472G>A; p.R491Q; 3:47678297-47678297

central_nervous_system; braingliomaSubstitution - Missense

c.3077G>C; p.G1026A; 3:47590804-47590804

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1472G>A; p.R491Q; 3:47678297-47678297

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1472G>A; p.R491Q; 3:47678297-47678297

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1893C>T; p.L631L; 3:47670664-47670664

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2877A>G; p.E959E; 3:47610232-47610232

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1141G>A; p.E381K; 3:47701302-47701302

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1199T>G; p.V400G; 3:47693267-47693267

skinmalignant_melanomaSubstitution - Missense

c.852T>G; p.D284E; 3:47710749-47710749

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1108G>T; p.D370Y; 3:47701335-47701335

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1176G>T; p.K392N; 3:47693290-47693290

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1176G>T; p.K392N; 3:47693290-47693290

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2177G>T; p.R726L; 3:47661437-47661437

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1926G>C; p.W642C; 3:47662566-47662566

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.3140G>A; p.G1047D; 3:47590741-47590741

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.828C>T; p.F276F; 3:47710773-47710773

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.850G>A; p.D284N; 3:47710751-47710751

urinary_tract; bladdercarcinomaSubstitution - Missense

c.3302C>A; p.A1101D; 3:47588225-47588225

stomachcarcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiableSubstitution - Missense

c.2889T>C; p.H963H; 3:47610220-47610220

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1371G>T; p.W457C; 3:47686063-47686063

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1978C>T; p.H660Y; 3:47662514-47662514

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.772A>G; p.I258V; 3:47714435-47714435

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3043G>A; p.G1015S; 3:47610066-47610066

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1928A>G; p.N643S; 3:47662564-47662564

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3313C>T; p.P1105S; 3:47588214-47588214

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1928A>G; p.N643S; 3:47662564-47662564

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3189C>T; p.P1063P; 3:47590692-47590692

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.3189C>T; p.P1063P; 3:47590692-47590692

skinmalignant_melanomaSubstitution - coding silent

c.2551G>A; p.D851N; 3:47635285-47635285

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1367C>G; p.S456*; 3:47686067-47686067

livercarcinomaSubstitution - Nonsense

c.1586delT; p.L529fs*1; 3:47676768-47676768

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.439C>G; p.R147G; 3:47738073-47738073

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1805G>A; p.R602H; 3:47675509-47675509

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1805G>A; p.R602H; 3:47675509-47675509

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2425G>T; p.D809Y; 3:47636088-47636088

thyroidother; neoplasmSubstitution - Missense

c.1847G>T; p.G616V; 3:47670710-47670710

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1468T>C; p.Y490H; 3:47678301-47678301

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2883G>A; p.Q961Q; 3:47610226-47610226

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2301C>G; p.P767P; 3:47661313-47661313

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1705C>A; p.L569M; 3:47676649-47676649

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1954C>T; p.R652C; 3:47662538-47662538

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1561G>T; p.A521S; 3:47678208-47678208

breastcarcinomaSubstitution - Missense

c.1256G>A; p.G419E; 3:47689394-47689394

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1243A>G; p.T415A; 3:47689407-47689407

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1385+4A>T; p.?; 3:47686045-47686045

livercarcinomaUnknown

c.569G>A; p.R190Q; 3:47736041-47736041

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.823_824delAT; p.I275fs*3; 3:47710777-47710778

large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.2840_2881del42; p.L947_Q960del14; 3:47610228-47610269

endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.1385+4A>T; p.?; 3:47686045-47686045

livercarcinomaUnknown

c.1715G>A; p.R572Q; 3:47676639-47676639

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.890G>A; p.R297H; 3:47710711-47710711

stomachadenocarcinomaSubstitution - Missense

c.3147C>T; p.T1049T; 3:47590734-47590734

skin; neckmalignant_melanomaSubstitution - coding silent


')