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

Basic Information

Gene ID

2034

Name

EPAS1

Synonymous

endothelial PAS domain protein 1;EPAS1;endothelial PAS domain protein 1

Definition

EPAS-1|HIF-1-alpha-like factor|HIF-1alpha-like factor|HIF-2-alpha|HIF2-alpha|PAS domain-containing protein 2|basic-helix-loop-helix-PAS protein MOP2|class E basic helix-loop-helix protein 73|endothelial PAS domain-containing protein 1|hypoxia-inducible fa

Position

2p21-p16

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 0.08.

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.435G>T; p.E145D; 2:46356789-46356789

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.441G>C; p.L147L; 2:46356795-46356795

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1130G>A; p.S377N; 2:46376634-46376634

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.651C>T; p.P217P; 2:46360962-46360962

 skinmalignant_melanomaSubstitution - coding silent

c.1893delG; p.G633fs*63; 2:46380565-46380565

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.931G>A; p.A311T; 2:46375734-46375734

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.244G>A; p.E82K; 2:46356177-46356177

 haematopoietic_and_lymphoid_tissue; abdomenlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.2309T>C; p.M770T; 2:46382446-46382446

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.497G>T; p.R166L; 2:46360680-46360680

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.232G>A; p.E78K; 2:46356165-46356165

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1958C>T; p.A653V; 2:46380630-46380630

 NSmalignant_melanomaSubstitution - Missense

c.2359T>C; p.S787P; 2:46382496-46382496

 livercarcinomaSubstitution - Missense

c.1876A>G; p.T626A; 2:46380548-46380548

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2474_2475GG>CC; p.R825P; 2:46384521-46384522

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.809A>C; p.E270A; 2:46369856-46369856

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1522G>A; p.D508N; 2:46378735-46378735

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1612G>A; p.E538K; 2:46380284-46380284

 skinmalignant_melanomaSubstitution - Missense

c.493G>C; p.E165Q; 2:46360676-46360676

 breastcarcinomaSubstitution - Missense

c.2442G>A; p.S814S; 2:46382579-46382579

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.2437C>A; p.L813M; 2:46382574-46382574

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1064C>T; p.S355F; 2:46376568-46376568

 skinmalignant_melanomaSubstitution - Missense

c.1749C>T; p.F583F; 2:46380421-46380421

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2001G>T; p.L667F; 2:46380673-46380673

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1828G>A; p.D610N; 2:46380500-46380500

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.836A>T; p.E279V; 2:46369883-46369883

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.836A>T; p.E279V; 2:46369883-46369883

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1309C>T; p.P437S; 2:46377953-46377953

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.414C>T; p.C138C; 2:46356768-46356768

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.829G>C; p.A277P; 2:46369876-46369876

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.288G>A; p.E96E; 2:46356221-46356221

 skinmalignant_melanomaSubstitution - coding silent

c.1516G>A; p.A506T; 2:46378729-46378729

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.424G>A; p.E142K; 2:46356778-46356778

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.215C>T; p.S72L; 2:46347061-46347061

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1736C>A; p.P579Q; 2:46380408-46380408

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1808C>A; p.P603H; 2:46380480-46380480

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2356C>A; p.P786T; 2:46382493-46382493

 prostatecarcinomaSubstitution - Missense

c.1148C>G; p.S383C; 2:46376652-46376652

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1089C>G; p.F363L; 2:46376593-46376593

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1847C>T; p.S616F; 2:46380519-46380519

 skinmalignant_melanomaSubstitution - Missense

c.1249+1G>C; p.?; 2:46376754-46376754

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaUnknown

c.2129G>A; p.R710Q; 2:46381679-46381679

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2541C>T; p.N847N; 2:46384588-46384588

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2129G>A; p.R710Q; 2:46381679-46381679

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.588G>A; p.T196T; 2:46360899-46360899

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.276G>A; p.L92L; 2:46356209-46356209

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.68C>T; p.A23V; 2:46346914-46346914

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1532C>T; p.A511V; 2:46378745-46378745

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1917G>A; p.W639*; 2:46380589-46380589

 breastcarcinomaSubstitution - Nonsense

c.1917G>A; p.W639*; 2:46380589-46380589

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.493G>A; p.E165K; 2:46360676-46360676

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2169C>T; p.S723S; 2:46381719-46381719

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.2128C>T; p.R710*; 2:46381678-46381678

 NSNSSubstitution - Nonsense

c.1263C>T; p.F421F; 2:46377907-46377907

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1003C>T; p.Q335*; 2:46375806-46375806

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myeloid_leukaemiaSubstitution - Nonsense

c.1775T>A; p.L592Q; 2:46380447-46380447

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.694C>A; p.P232T; 2:46361005-46361005

 breastcarcinomaSubstitution - Missense

c.469delA; p.S159fs*12; 2:46360652-46360652

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.824G>A; p.R275H; 2:46369871-46369871

 cervixcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1625T>G; p.L542R; 2:46380297-46380297

 livercarcinomaSubstitution - Missense

c.1625T>G; p.L542R; 2:46380297-46380297

 livercarcinomaSubstitution - Missense

c.1659G>C; p.A553A; 2:46380331-46380331

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.948C>T; p.Y316Y; 2:46375751-46375751

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2591G>T; p.R864I; 2:46384638-46384638

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1976C>G; p.T659R; 2:46380648-46380648

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.217G>A; p.V73I; 2:46347063-46347063

 skinmalignant_melanomaSubstitution - Missense

c.1898G>A; p.G633D; 2:46380570-46380570

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1908T>C; p.N636N; 2:46380580-46380580

 thyroidother; neoplasmSubstitution - coding silent

c.2367C>T; p.I789I; 2:46382504-46382504

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1035-7C>G; p.?; 2:46376532-46376532

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.2069G>A; p.R690Q; 2:46381619-46381619

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.415G>A; p.D139N; 2:46356769-46356769

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2303A>C; p.N768T; 2:46382440-46382440

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2303A>C; p.N768T; 2:46382440-46382440

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.430C>T; p.R144C; 2:46356784-46356784

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.430C>T; p.R144C; 2:46356784-46356784

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.294C>A; p.F98L; 2:46356227-46356227

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2372C>T; p.P791L; 2:46382509-46382509

 skinmalignant_melanomaSubstitution - Missense

c.95A>T; p.E32V; 2:46346941-46346941

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1648C>T; p.R550W; 2:46380320-46380320

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.711delC; p.L239fs*7; 2:46361022-46361022

 large_intestine; coloncarcinoma; adenocarcinomaDeletion - Frameshift

c.447C>G; p.L149L; 2:46356801-46356801

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.2546C>T; p.P849L; 2:46384593-46384593

 skinmalignant_melanomaSubstitution - Missense

c.2116C>T; p.L706L; 2:46381666-46381666

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2568C>T; p.L856L; 2:46384615-46384615

 skinmalignant_melanomaSubstitution - coding silent

c.164C>T; p.S55F; 2:46347010-46347010

 skinmalignant_melanomaSubstitution - Missense

c.138T>C; p.S46S; 2:46346984-46346984

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.164C>T; p.S55F; 2:46347010-46347010

 breastcarcinomaSubstitution - Missense

c.2598G>T; p.L866L; 2:46384645-46384645

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.92C>T; p.T31M; 2:46346938-46346938

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1531G>A; p.A511T; 2:46378744-46378744

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1482C>T; p.N494N; 2:46378695-46378695

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2461+1G>T; p.?; 2:46382599-46382599

 ovaryother; neoplasmUnknown

c.1637G>T; p.C546F; 2:46380309-46380309

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1093delC; p.H366fs*2; 2:46376597-46376597

 central_nervous_system; brainglioma; astrocytoma_Grade_IVDeletion - Frameshift

c.52A>G; p.K18E; 2:46346898-46346898

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1755G>C; p.L585L; 2:46380427-46380427

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.742C>A; p.H248N; 2:46361053-46361053

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.742C>A; p.H248N; 2:46361053-46361053

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.139G>A; p.V47M; 2:46346985-46346985

 central_nervous_system; braingliomaSubstitution - Missense

c.2597T>C; p.L866P; 2:46384644-46384644

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.186C>T; p.S62S; 2:46347032-46347032

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.98T>C; p.V33A; 2:46346944-46346944

 skinmalignant_melanomaSubstitution - Missense

c.2080G>A; p.V694M; 2:46381630-46381630

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.2547C>T; p.P849P; 2:46384594-46384594

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.669C>G; p.I223M; 2:46360980-46360980

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1515C>T; p.F505F; 2:46378728-46378728

 breastcarcinomaSubstitution - coding silent

c.151C>A; p.L51M; 2:46346997-46346997

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.625A>G; p.N209D; 2:46360936-46360936

 breastcarcinomaSubstitution - Missense

c.779G>T; p.R260I; 2:46361090-46361090

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1421G>C; p.S474T; 2:46378065-46378065

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.2022C>A; p.P674P; 2:46380694-46380694

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2180C>T; p.P727L; 2:46381982-46381982

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.2061T>G; p.F687L; 2:46381611-46381611

 breastcarcinomaSubstitution - Missense

c.772G>A; p.D258N; 2:46361083-46361083

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2180C>T; p.P727L; 2:46381982-46381982

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1060T>C; p.F354L; 2:46376564-46376564

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1733C>T; p.A578V; 2:46380405-46380405

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1483G>A; p.D495N; 2:46378696-46378696

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.988C>T; p.R330C; 2:46375791-46375791

 skinmalignant_melanomaSubstitution - Missense

c.1472C>A; p.S491Y; 2:46378685-46378685

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1916G>T; p.W639L; 2:46380588-46380588

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.454+5C>T; p.?; 2:46356813-46356813

 pancreascarcinomaUnknown

c.2296A>C; p.T766P; 2:46382433-46382433

 skinmalignant_melanomaSubstitution - Missense

c.2296A>C; p.T766P; 2:46382433-46382433

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.2296A>C; p.T766P; 2:46382433-46382433

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.971C>T; p.T324M; 2:46375774-46375774

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.2565G>A; p.T855T; 2:46384612-46384612

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2565G>A; p.T855T; 2:46384612-46384612

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.172C>T; p.R58*; 2:46347018-46347018

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.231C>T; p.N77N; 2:46356164-46356164

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.231C>T; p.N77N; 2:46356164-46356164

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2432A>G; p.Y811C; 2:46382569-46382569

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.132C>A; p.P44P; 2:46346978-46346978

 breastcarcinomaSubstitution - coding silent

c.2015C>A; p.S672Y; 2:46380687-46380687

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2015C>A; p.S672Y; 2:46380687-46380687

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.540C>A; p.G180G; 2:46360723-46360723

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.2171G>A; p.G724E; 2:46381721-46381721

 kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.940delG; p.G315fs*30; 2:46375743-46375743

 stomachcarcinoma; intestinal_adenocarcinomaDeletion - Frameshift

c.1139G>A; p.G380E; 2:46376643-46376643

 skinmalignant_melanomaSubstitution - Missense

c.1682A>G; p.Q561R; 2:46380354-46380354

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1565A>G; p.N522S; 2:46380237-46380237

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.2397C>T; p.F799F; 2:46382534-46382534

 skinmalignant_melanomaSubstitution - coding silent

c.1900A>G; p.R634G; 2:46380572-46380572

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1557G>A; p.T519T; 2:46380229-46380229

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1660G>A; p.E554K; 2:46380332-46380332

 skinmalignant_melanomaSubstitution - Missense

c.867G>C; p.M289I; 2:46369914-46369914

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.1026C>T; p.Y342Y; 2:46375829-46375829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1503T>C; p.I501I; 2:46378716-46378716

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1448A>G; p.N483S; 2:46378661-46378661

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.413G>A; p.C138Y; 2:46356767-46356767

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.827C>T; p.S276L; 2:46369874-46369874

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2168G>A; p.S723N; 2:46381718-46381718

 ovaryother; neoplasmSubstitution - Missense

c.827C>T; p.S276L; 2:46369874-46369874

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.2168G>A; p.S723N; 2:46381718-46381718

 ovaryother; neoplasmSubstitution - Missense

c.1504G>A; p.E502K; 2:46378717-46378717

 skin; earcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.941G>A; p.G314E; 2:46375744-46375744

 NSmalignant_melanomaSubstitution - Missense

c.941G>A; p.G314E; 2:46375744-46375744

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.941G>A; p.G314E; 2:46375744-46375744

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.1465T>C; p.Y489H; 2:46378678-46378678

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1899C>T; p.G633G; 2:46380571-46380571

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.2007C>T; p.P669P; 2:46380679-46380679

 skinmalignant_melanomaSubstitution - coding silent

c.2489C>T; p.S830L; 2:46384536-46384536

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2092G>A; p.A698T; 2:46381642-46381642

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1024T>C; p.Y342H; 2:46375827-46375827

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

')