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

Basic Information

Gene ID

4734

Name

NEDD4

Synonymous

neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase;NEDD4;neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase

Definition

E3 ubiquitin-protein ligase NEDD4|cell proliferation-inducing gene 53 protein|neural precursor cell expressed developmentally down-regulated protein 4|receptor-potentiating factor 1

Position

15q

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.1417A>G; p.K473E; 15:55915415-55915415

 thyroidcarcinomaSubstitution - Missense

c.2926G>A; p.E976K; 15:55840681-55840681

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2926G>A; p.E976K; 15:55840681-55840681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.949G>T; p.G317*; 15:55915883-55915883

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2663A>C; p.N888T; 15:55842150-55842150

 pancreascarcinomaSubstitution - Missense

c.3148G>A; p.D1050N; 15:55838529-55838529

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.3148G>A; p.D1050N; 15:55838529-55838529

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.935G>T; p.G312V; 15:55915897-55915897

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2873C>G; p.S958C; 15:55841940-55841940

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.543T>C; p.Y181Y; 15:55916289-55916289

 bone; pelvischondrosarcomaSubstitution - coding silent

c.3359T>C; p.L1120P; 15:55834231-55834231

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1884C>A; p.A628A; 15:55860524-55860524

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2932C>A; p.H978N; 15:55840675-55840675

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.218C>A; p.S73Y; 15:55916614-55916614

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1401C>T; p.S467S; 15:55915431-55915431

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.784C>T; p.R262C; 15:55916048-55916048

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1820G>A; p.R607Q; 15:55860674-55860674

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1820G>A; p.R607Q; 15:55860674-55860674

 thyroidother; neoplasmSubstitution - Missense

c.2783A>G; p.K928R; 15:55842030-55842030

 central_nervous_system; braingliomaSubstitution - Missense

c.3733G>T; p.G1245*; 15:55829908-55829908

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.284G>A; p.R95K; 15:55916548-55916548

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1390C>T; p.P464S; 15:55915442-55915442

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.3350A>C; p.E1117A; 15:55834240-55834240

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1217T>C; p.L406P; 15:55915615-55915615

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.665C>T; p.T222I; 15:55916167-55916167

 skinmalignant_melanomaSubstitution - Missense

c.1912T>G; p.L638V; 15:55860496-55860496

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1674C>A; p.N558K; 15:55862954-55862954

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3055C>A; p.H1019N; 15:55840464-55840464

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3266T>C; p.V1089A; 15:55837826-55837826

 pancreascarcinomaSubstitution - Missense

c.1465delG; p.A489fs*69; 15:55915367-55915367

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.196G>A; p.V66I; 15:55916636-55916636

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.196G>A; p.V66I; 15:55916636-55916636

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1752A>G; p.Q584Q; 15:55860742-55860742

 lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.110G>T; p.R37I; 15:55916722-55916722

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.876C>A; p.S292S; 15:55915956-55915956

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.3703A>T; p.M1235L; 15:55829938-55829938

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.292G>T; p.G98*; 15:55916540-55916540

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.2745C>T; p.F915F; 15:55842068-55842068

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2745C>T; p.F915F; 15:55842068-55842068

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.712C>T; p.Q238*; 15:55916120-55916120

 soft_tissue; striated_musclerhabdomyosarcoma; embryonalSubstitution - Nonsense

c.3417A>T; p.T1139T; 15:55834092-55834092

 livercarcinomaSubstitution - coding silent

c.3417A>T; p.T1139T; 15:55834092-55834092

 livercarcinomaSubstitution - coding silent

c.1978G>A; p.V660M; 15:55860430-55860430

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441T>C; p.C147C; 15:55916391-55916391

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1755G>T; p.L585L; 15:55860739-55860739

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2083T>C; p.S695P; 15:55852528-55852528

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1005C>T; p.P335P; 15:55915827-55915827

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.31G>A; p.A11T; 15:55916801-55916801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.31G>A; p.A11T; 15:55916801-55916801

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3650G>A; p.R1217H; 15:55829991-55829991

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1304T>C; p.I435T; 15:55915528-55915528

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1912T>C; p.L638L; 15:55860496-55860496

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.3038A>G; p.H1013R; 15:55840481-55840481

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3038A>G; p.H1013R; 15:55840481-55840481

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2548G>T; p.D850Y; 15:55848407-55848407

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2066T>G; p.V689G; 15:55856132-55856132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3475G>C; p.V1159L; 15:55833101-55833101

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.2519A>G; p.N840S; 15:55848526-55848526

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2329C>A; p.R777R; 15:55850601-55850601

 skinmalignant_melanomaSubstitution - coding silent

c.922C>T; p.H308Y; 15:55915910-55915910

 breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.3612T>G; p.T1204T; 15:55830543-55830543

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.1650C>T; p.I550I; 15:55862978-55862978

 skinmalignant_melanomaSubstitution - coding silent

c.2562G>A; p.E854E; 15:55848393-55848393

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2788T>A; p.L930M; 15:55842025-55842025

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1711C>T; p.P571S; 15:55862917-55862917

 skinmalignant_melanomaSubstitution - Missense

c.3004T>G; p.F1002V; 15:55840515-55840515

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.833C>T; p.P278L; 15:55915999-55915999

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3587C>A; p.S1196*; 15:55830568-55830568

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3262T>C; p.F1088L; 15:55837830-55837830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.3262T>C; p.F1088L; 15:55837830-55837830

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1713T>C; p.P571P; 15:55862915-55862915

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1982G>C; p.S661T; 15:55860426-55860426

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.482C>A; p.S161Y; 15:55916350-55916350

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.613A>C; p.N205H; 15:55916219-55916219

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1400C>T; p.S467F; 15:55915432-55915432

 skinmalignant_melanomaSubstitution - Missense

c.3649C>T; p.R1217C; 15:55829992-55829992

 skin; extremitymalignant_melanomaSubstitution - Missense

c.195C>T; p.N65N; 15:55916637-55916637

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.3739G>T; p.D1247Y; 15:55829902-55829902

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1830C>A; p.S610S; 15:55860664-55860664

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1665T>G; p.Y555*; 15:55862963-55862963

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.3720C>A; p.T1240T; 15:55829921-55829921

 skinmalignant_melanomaSubstitution - coding silent

c.1576G>C; p.D526H; 15:55863052-55863052

 central_nervous_system; brainglioma; astrocytoma_Grade_IIISubstitution - Missense

c.492C>A; p.S164R; 15:55916340-55916340

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2249C>T; p.A750V; 15:55850681-55850681

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.707T>G; p.F236C; 15:55916125-55916125

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2717G>T; p.R906I; 15:55842096-55842096

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1647T>C; p.D549D; 15:55862981-55862981

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1410C>T; p.S470S; 15:55915422-55915422

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1610C>A; p.P537H; 15:55863018-55863018

 livercarcinomaSubstitution - Missense

c.688A>G; p.S230G; 15:55916144-55916144

 livercarcinomaSubstitution - Missense

c.1610C>A; p.P537H; 15:55863018-55863018

 livercarcinomaSubstitution - Missense

c.275A>C; p.Q92P; 15:55916557-55916557

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.3124G>T; p.E1042*; 15:55838553-55838553

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1638G>A; p.E546E; 15:55862990-55862990

 skinmalignant_melanomaSubstitution - coding silent

c.42C>A; p.S14R; 15:55916790-55916790

 oesophaguscarcinomaSubstitution - Missense

c.2187+1G>A; p.?; 15:55852423-55852423

 lungcarcinoma; squamous_cell_carcinomaUnknown

c.2612G>T; p.R871I; 15:55847006-55847006

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.2612G>T; p.R871I; 15:55847006-55847006

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1170T>C; p.C390C; 15:55915662-55915662

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.3434A>G; p.Y1145C; 15:55834075-55834075

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.2638T>C; p.L880L; 15:55846980-55846980

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1587C>T; p.C529C; 15:55863041-55863041

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.789C>T; p.Y263Y; 15:55916043-55916043

 pancreascarcinomaSubstitution - coding silent

c.97A>G; p.M33V; 15:55916735-55916735

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.149A>T; p.K50M; 15:55916683-55916683

 pancreascarcinomaSubstitution - Missense

c.2579G>T; p.G860V; 15:55848376-55848376

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1314A>G; p.E438E; 15:55915518-55915518

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1305C>T; p.I435I; 15:55915527-55915527

 skinmalignant_melanomaSubstitution - coding silent

c.541T>C; p.Y181H; 15:55916291-55916291

 endometriumcarcinoma; serous_carcinomaSubstitution - Missense

c.2562G>T; p.E854D; 15:55848393-55848393

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1804G>A; p.E602K; 15:55860690-55860690

 skin; armmalignant_melanomaSubstitution - Missense

c.1731T>C; p.D577D; 15:55860763-55860763

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.2159C>T; p.T720M; 15:55852452-55852452

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2407A>T; p.I803F; 15:55848868-55848868

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1968A>G; p.G656G; 15:55860440-55860440

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1915G>A; p.D639N; 15:55860493-55860493

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2621A>T; p.E874V; 15:55846997-55846997

 livercarcinomaSubstitution - Missense

c.1715+1G>A; p.?; 15:55862912-55862912

 bone; pelvisEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourUnknown

c.2724G>T; p.M908I; 15:55842089-55842089

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2266G>T; p.G756C; 15:55850664-55850664

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1678G>T; p.E560*; 15:55862950-55862950

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.1678G>T; p.E560*; 15:55862950-55862950

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.955C>A; p.L319I; 15:55915877-55915877

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.135C>T; p.N45N; 15:55916697-55916697

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.69C>T; p.S23S; 15:55916763-55916763

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.3029T>C; p.M1010T; 15:55840490-55840490

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2469+9A>T; p.?; 15:55848797-55848797

 livercarcinomaUnknown

c.3585G>T; p.Q1195H; 15:55830570-55830570

 breastcarcinomaSubstitution - Missense

c.3272G>A; p.R1091Q; 15:55837820-55837820

 skinmalignant_melanomaSubstitution - Missense

c.4delG; p.A2fs*48; 15:55916828-55916828

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourDeletion - Frameshift

c.1596G>A; p.Q532Q; 15:55863032-55863032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2395C>T; p.P799S; 15:55848880-55848880

 breastcarcinomaSubstitution - Missense

c.979C>T; p.R327W; 15:55915853-55915853

 skin; neckmalignant_melanomaSubstitution - Missense

c.3205A>G; p.I1069V; 15:55838144-55838144

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2916A>T; p.G972G; 15:55840691-55840691

 bone; tibiaEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2925C>T; p.N975N; 15:55840682-55840682

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.677T>A; p.I226N; 15:55916155-55916155

 kidneyother; neoplasmSubstitution - Missense

c.391G>A; p.E131K; 15:55916441-55916441

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2833A>T; p.K945*; 15:55841980-55841980

 lungcarcinoma; adenocarcinomaSubstitution - Nonsense

c.649C>T; p.P217S; 15:55916183-55916183

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1526A>G; p.N509S; 15:55915306-55915306

 livercarcinomaSubstitution - Missense

c.3606G>T; p.W1202C; 15:55830549-55830549

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3028A>G; p.M1010V; 15:55840491-55840491

 central_nervous_system; brainglioma; astrocytoma_Grade_IISubstitution - Missense

c.2176C>G; p.P726A; 15:55852435-55852435

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3106C>A; p.L1036I; 15:55838571-55838571

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2084C>A; p.S695Y; 15:55852527-55852527

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1990G>A; p.A664T; 15:55860418-55860418

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.481T>C; p.S161P; 15:55916351-55916351

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2034C>A; p.A678A; 15:55856164-55856164

 livercarcinomaSubstitution - coding silent

c.2034C>A; p.A678A; 15:55856164-55856164

 livercarcinomaSubstitution - coding silent

c.2933A>G; p.H978R; 15:55840674-55840674

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.3725G>A; p.G1242D; 15:55829916-55829916

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1995G>A; p.S665S; 15:55860413-55860413

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.959C>T; p.S320L; 15:55915873-55915873

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1361G>A; p.R454Q; 15:55915471-55915471

 breastcarcinomaSubstitution - Missense

c.2524+2T>C; p.?; 15:55848519-55848519

 stomachcarcinoma; adenocarcinomaUnknown

c.1361G>A; p.R454Q; 15:55915471-55915471

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1223C>A; p.S408Y; 15:55915609-55915609

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.5C>T; p.A2V; 15:55916827-55916827

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.359A>T; p.D120V; 15:55916473-55916473

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1187A>T; p.D396V; 15:55915645-55915645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1187A>T; p.D396V; 15:55915645-55915645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1187A>T; p.D396V; 15:55915645-55915645

 large_intestine; coloncarcinomaSubstitution - Missense

c.3402C>G; p.D1134E; 15:55834107-55834107

 breastcarcinomaSubstitution - Missense

c.1187A>T; p.D396V; 15:55915645-55915645

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2116G>A; p.D706N; 15:55852495-55852495

 skin; trunkmalignant_melanomaSubstitution - Missense

c.2669T>G; p.F890C; 15:55842144-55842144

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3074A>G; p.D1025G; 15:55838603-55838603

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2410C>T; p.P804S; 15:55848865-55848865

 skinmalignant_melanomaSubstitution - Missense

c.2410C>T; p.P804S; 15:55848865-55848865

 skinmalignant_melanomaSubstitution - Missense

c.298C>A; p.L100I; 15:55916534-55916534

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2449A>C; p.N817H; 15:55848826-55848826

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; follicular_lymphomaSubstitution - Missense

c.17G>A; p.R6Q; 15:55916815-55916815

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1616_1618delCTC; p.P539delP; 15:55863010-55863012

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.1712C>A; p.P571H; 15:55862916-55862916

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1415T>G; p.L472R; 15:55915417-55915417

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1520G>T; p.C507F; 15:55915312-55915312

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.17G>A; p.R6Q; 15:55916815-55916815

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1070C>T; p.S357L; 15:55915762-55915762

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1070C>T; p.S357L; 15:55915762-55915762

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1070C>T; p.S357L; 15:55915762-55915762

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1572A>G; p.Q524Q; 15:55863056-55863056

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1693C>A; p.Q565K; 15:55862935-55862935

 kidneyother; neoplasmSubstitution - Missense

c.2272C>T; p.Q758*; 15:55850658-55850658

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.2329C>T; p.R777W; 15:55850601-55850601

 prostatecarcinomaSubstitution - Missense

c.2329C>T; p.R777W; 15:55850601-55850601

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3567C>T; p.Y1189Y; 15:55833009-55833009

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1334A>G; p.Q445R; 15:55915498-55915498

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.21G>A; p.L7L; 15:55916811-55916811

 breastcarcinomaSubstitution - coding silent

c.2321_2322GG>TT; p.W774F; 15:55850608-55850609

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.3184_3186delCTG; p.L1062delL; 15:55838163-55838165

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - In frame

c.387T>C; p.D129D; 15:55916445-55916445

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2066T>C; p.V689A; 15:55856132-55856132

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2983C>T; p.H995Y; 15:55840624-55840624

 skin; facecarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1877A>G; p.N626S; 15:55860531-55860531

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1877A>G; p.N626S; 15:55860531-55860531

 thyroidother; neoplasmSubstitution - Missense

c.1192A>T; p.K398*; 15:55915640-55915640

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.1192A>T; p.K398*; 15:55915640-55915640

 large_intestinecarcinoma; adenocarcinomaSubstitution - Nonsense

c.496G>A; p.G166S; 15:55916336-55916336

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1307A>G; p.N436S; 15:55915525-55915525

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

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