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

Basic Information

Gene ID

91133

Name

L3MBTL4

Synonymous

l(3)mbt-like 4 (Drosophila);L3MBTL4;l(3)mbt-like 4 (Drosophila)

Definition

H-l(3)mbt-like protein 4|l(3)mbt-like protein 4|lethal(3)malignant brain tumor-like protein 4

Position

18p11.31

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 0.09.

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.1172G>A; p.R391H; 18:6138221-6138221

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1565G>A; p.R522K; 18:5969469-5969469

 breastcarcinomaSubstitution - Missense

c.1255G>A; p.D419N; 18:6093473-6093473

 skinmalignant_melanomaSubstitution - Missense

c.1606C>T; p.R536W; 18:5969428-5969428

 skinmalignant_melanomaSubstitution - Missense

c.476A>C; p.K159T; 18:6241434-6241434

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1606C>T; p.R536W; 18:5969428-5969428

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1820C>T; p.S607F; 18:5956272-5956272

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.383G>A; p.W128*; 18:6243371-6243371

 skinmalignant_melanomaSubstitution - Nonsense

c.455C>A; p.P152H; 18:6243299-6243299

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1445-2A>G; p.?; 18:6046756-6046756

 stomachcarcinoma; adenocarcinomaUnknown

c.854C>T; p.A285V; 18:6215766-6215766

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.324+1delG; p.?; 18:6244483-6244483

 stomachadenocarcinomaUnknown

c.1046A>C; p.H349P; 18:6171878-6171878

 breastcarcinomaSubstitution - Missense

c.1147G>A; p.G383R; 18:6138246-6138246

 pancreascarcinomaSubstitution - Missense

c.1391A>T; p.K464M; 18:6080934-6080934

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1423G>C; p.D475H; 18:6080902-6080902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1712A>C; p.D571A; 18:5956380-5956380

 livercarcinomaSubstitution - Missense

c.786T>A; p.G262G; 18:6215834-6215834

 pancreascarcinomaSubstitution - coding silent

c.1491G>A; p.A497A; 18:5969543-5969543

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.178G>T; p.E60*; 18:6263988-6263988

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.528G>T; p.K176N; 18:6241382-6241382

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.994G>A; p.G332S; 18:6171930-6171930

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.472G>C; p.D158H; 18:6241438-6241438

 breastcarcinomaSubstitution - Missense

c.172T>G; p.L58V; 18:6263994-6263994

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.157T>G; p.S53A; 18:6264009-6264009

 boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - Missense

c.211T>C; p.F71L; 18:6263955-6263955

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.634G>A; p.A212T; 18:6239791-6239791

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.461-3_461-2insT; p.?; 18:6241451-6241452

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.88G>A; p.E30K; 18:6301942-6301942

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.700G>A; p.D234N; 18:6239725-6239725

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.784+1G>A; p.?; 18:6237963-6237963

 skinmalignant_melanomaUnknown

c.1656A>G; p.V552V; 18:5960142-5960142

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.192C>T; p.V64V; 18:6263974-6263974

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.78A>T; p.Q26H; 18:6301952-6301952

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.192C>T; p.V64V; 18:6263974-6263974

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1371C>A; p.P457P; 18:6093357-6093357

 prostatecarcinoma; adenocarcinomaSubstitution - coding silent

c.1490C>T; p.A497V; 18:5969544-5969544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.50G>A; p.R17H; 18:6311576-6311576

 haematopoietic_and_lymphoid_tissue; breastlymphoid_neoplasm; diffuse_large_B_cell_lymphomaSubstitution - Missense

c.50G>A; p.R17H; 18:6311576-6311576

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1490C>T; p.A497V; 18:5969544-5969544

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.900G>A; p.M300I; 18:6213230-6213230

 skinmalignant_melanomaSubstitution - Missense

c.700delG; p.D234fs*24; 18:6239725-6239725

 lungcarcinoma; adenocarcinomaDeletion - Frameshift

c.597G>A; p.E199E; 18:6239828-6239828

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.636G>A; p.A212A; 18:6239789-6239789

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.148G>A; p.G50R; 18:6264018-6264018

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.923G>C; p.R308P; 18:6213207-6213207

 large_intestineadenomaSubstitution - Missense

c.18G>A; p.R6R; 18:6311608-6311608

 skinmalignant_melanomaSubstitution - coding silent

c.711C>T; p.C237C; 18:6238037-6238037

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.1374-1G>A; p.?; 18:6080952-6080952

 pancreascarcinomaUnknown

c.404A>G; p.D135G; 18:6243350-6243350

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.162G>A; p.W54*; 18:6264004-6264004

 skinmalignant_melanomaSubstitution - Nonsense

c.1361A>C; p.N454T; 18:6093367-6093367

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1555C>T; p.P519S; 18:5969479-5969479

 skinmalignant_melanomaSubstitution - Missense

c.791C>G; p.P264R; 18:6215829-6215829

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.658G>A; p.D220N; 18:6239767-6239767

 skinmalignant_melanomaSubstitution - Missense

c.658G>A; p.D220N; 18:6239767-6239767

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1615C>A; p.Q539K; 18:5969419-5969419

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.470A>C; p.K157T; 18:6241440-6241440

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.662G>A; p.R221H; 18:6239763-6239763

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.264G>A; p.M88I; 18:6244544-6244544

 skinmalignant_melanomaSubstitution - Missense

c.504C>T; p.A168A; 18:6241406-6241406

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.769C>G; p.L257V; 18:6237979-6237979

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1644G>C; p.V548V; 18:5960154-5960154

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.398C>T; p.S133F; 18:6243356-6243356

 skinmalignant_melanomaSubstitution - Missense

c.545G>A; p.R182K; 18:6241365-6241365

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1220C>T; p.S407L; 18:6093508-6093508

 skinmalignant_melanomaSubstitution - Missense

c.1669G>A; p.G557S; 18:5960129-5960129

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1402A>T; p.I468F; 18:6080923-6080923

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1547G>A; p.R516Q; 18:5969487-5969487

 skinmalignant_melanomaSubstitution - Missense

c.68G>A; p.R23H; 18:6311558-6311558

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.635C>T; p.A212V; 18:6239790-6239790

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.635C>T; p.A212V; 18:6239790-6239790

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1809G>A; p.M603I; 18:5956283-5956283

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1853G>A; p.G618D; 18:5956239-5956239

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1138C>T; p.P380S; 18:6138255-6138255

 skinmalignant_melanomaSubstitution - Missense

c.1239G>A; p.K413K; 18:6093489-6093489

 skinmalignant_melanomaSubstitution - coding silent

c.834T>C; p.T278T; 18:6215786-6215786

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - coding silent

c.1105G>A; p.D369N; 18:6138288-6138288

 pancreascarcinomaSubstitution - Missense

c.1742C>G; p.T581R; 18:5956350-5956350

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1545delT; p.R516fs*63; 18:5969489-5969489

 large_intestine; caecumcarcinoma; adenocarcinomaDeletion - Frameshift

c.1641+2T>C; p.?; 18:5969391-5969391

 skinmalignant_melanomaUnknown

c.548G>C; p.S183T; 18:6241362-6241362

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.248G>T; p.G83V; 18:6244560-6244560

 livercarcinomaSubstitution - Missense

c.58C>T; p.Q20*; 18:6311568-6311568

 skinmalignant_melanomaSubstitution - Nonsense

c.1803C>T; p.I601I; 18:5956289-5956289

 skinmalignant_melanomaSubstitution - coding silent

c.1482G>T; p.V494V; 18:5969552-5969552

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.740T>A; p.V247D; 18:6238008-6238008

 pancreascarcinomaSubstitution - Missense

c.428A>G; p.E143G; 18:6243326-6243326

 NSmalignant_melanomaSubstitution - Missense

c.1390A>C; p.K464Q; 18:6080935-6080935

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1343G>T; p.G448V; 18:6093385-6093385

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.958G>A; p.D320N; 18:6213172-6213172

 skinmalignant_melanomaSubstitution - Missense

c.418G>A; p.G140R; 18:6243336-6243336

 skinmalignant_melanomaSubstitution - Missense

c.746G>T; p.W249L; 18:6238002-6238002

 pancreascarcinomaSubstitution - Missense

c.1778C>T; p.P593L; 18:5956314-5956314

 skinmalignant_melanomaSubstitution - Missense

c.1805T>C; p.L602P; 18:5956287-5956287

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.123T>G; p.S41R; 18:6301907-6301907

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.479T>G; p.F160C; 18:6241431-6241431

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.754G>T; p.E252*; 18:6237994-6237994

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.163G>A; p.E55K; 18:6264003-6264003

 skinmalignant_melanomaSubstitution - Missense

c.1465G>A; p.G489S; 18:6046734-6046734

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.670G>C; p.V224L; 18:6239755-6239755

 upper_aerodigestive_tract; larynxcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1101G>A; p.T367T; 18:6138292-6138292

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.933G>T; p.R311S; 18:6213197-6213197

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1101G>A; p.T367T; 18:6138292-6138292

 central_nervous_system; brainprimitive_neuroectodermal_tumour-medulloblastomaSubstitution - coding silent

c.1788G>T; p.K596N; 18:5956304-5956304

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.3G>A; p.M1I; 18:6311623-6311623

 skinmalignant_melanomaSubstitution - Missense

c.1559T>G; p.L520R; 18:5969475-5969475

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.621C>T; p.S207S; 18:6239804-6239804

 pancreasNSSubstitution - coding silent

c.984T>C; p.V328V; 18:6171940-6171940

 breastcarcinomaSubstitution - coding silent

c.151G>A; p.A51T; 18:6264015-6264015

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.122G>A; p.S41N; 18:6301908-6301908

 skinmalignant_melanomaSubstitution - Missense

c.1200-1G>T; p.?; 18:6093529-6093529

 stomachcarcinoma; adenocarcinomaUnknown

c.1837G>A; p.E613K; 18:5956255-5956255

 skinmalignant_melanomaSubstitution - Missense

c.623T>C; p.L208S; 18:6239802-6239802

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.385A>T; p.T129S; 18:6243369-6243369

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.609G>A; p.R203R; 18:6239816-6239816

 skinmalignant_melanomaSubstitution - coding silent

c.541A>G; p.N181D; 18:6241369-6241369

 upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1188G>T; p.S396S; 18:6138205-6138205

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.1156G>A; p.G386R; 18:6138237-6138237

 skinmalignant_melanomaSubstitution - Missense

c.198A>C; p.A66A; 18:6263968-6263968

 breastcarcinomaSubstitution - coding silent

c.285C>T; p.P95P; 18:6244523-6244523

 skinmalignant_melanomaSubstitution - coding silent

c.1494G>T; p.Q498H; 18:5969540-5969540

 oesophaguscarcinomaSubstitution - Missense

c.1258C>T; p.R420C; 18:6093470-6093470

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.92A>T; p.K31M; 18:6301938-6301938

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1258C>T; p.R420C; 18:6093470-6093470

 skinmalignant_melanomaSubstitution - Missense

c.1258C>T; p.R420C; 18:6093470-6093470

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1258C>T; p.R420C; 18:6093470-6093470

 skin; armmalignant_melanomaSubstitution - Missense

c.1526C>T; p.T509M; 18:5969508-5969508

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1526C>T; p.T509M; 18:5969508-5969508

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.152C>T; p.A51V; 18:6264014-6264014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1259G>A; p.R420H; 18:6093469-6093469

 breastcarcinomaSubstitution - Missense

c.1081C>G; p.L361V; 18:6171843-6171843

 breastcarcinomaSubstitution - Missense

c.1233G>A; p.L411L; 18:6093495-6093495

 breastcarcinomaSubstitution - coding silent

c.1560C>T; p.L520L; 18:5969474-5969474

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.128T>C; p.V43A; 18:6264038-6264038

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.552+1G>T; p.?; 18:6241357-6241357

 oesophaguscarcinoma; adenocarcinomaUnknown

c.128T>C; p.V43A; 18:6264038-6264038

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1729C>T; p.L577F; 18:5956363-5956363

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1729C>T; p.L577F; 18:5956363-5956363

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1007A>C; p.K336T; 18:6171917-6171917

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1007A>C; p.K336T; 18:6171917-6171917

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1407_1408insA; p.G470fs*6; 18:6080917-6080918

 breastcarcinomaInsertion - Frameshift

c.321G>A; p.A107A; 18:6244487-6244487

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1860A>C; p.E620D; 18:5956232-5956232

 stomachcarcinoma; diffuse_adenocarcinomaSubstitution - Missense

c.427G>A; p.E143K; 18:6243327-6243327

 skinmalignant_melanomaSubstitution - Missense

c.1112A>T; p.K371M; 18:6138281-6138281

 prostatecarcinomaSubstitution - Missense

c.293C>T; p.P98L; 18:6244515-6244515

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.1420A>G; p.I474V; 18:6080905-6080905

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1624C>T; p.R542C; 18:5969410-5969410

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.553-1G>T; p.?; 18:6239873-6239873

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.974G>A; p.R325K; 18:6213156-6213156

 ovaryother; neoplasmSubstitution - Missense

c.1199+3A>T; p.?; 18:6138191-6138191

 livercarcinomaUnknown

c.1049C>T; p.P350L; 18:6171875-6171875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1049C>T; p.P350L; 18:6171875-6171875

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.964G>A; p.D322N; 18:6213166-6213166

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.384G>A; p.W128*; 18:6243370-6243370

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.35T>C; p.M12T; 18:6311591-6311591

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1359G>C; p.V453V; 18:6093369-6093369

 stomachadenocarcinomaSubstitution - coding silent

c.1171C>T; p.R391C; 18:6138222-6138222

 skinmalignant_melanomaSubstitution - Missense

c.1702G>C; p.E568Q; 18:5960096-5960096

 oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1517C>T; p.S506F; 18:5969517-5969517

 skin; trunkmalignant_melanomaSubstitution - Missense

c.809C>T; p.S270F; 18:6215811-6215811

 skinmalignant_melanomaSubstitution - Missense

c.1338C>T; p.F446F; 18:6093390-6093390

 skinmalignant_melanomaSubstitution - coding silent

c.1558C>T; p.L520F; 18:5969476-5969476

 skinmalignant_melanomaSubstitution - Missense

c.661C>T; p.R221C; 18:6239764-6239764

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.738A>G; p.P246P; 18:6238010-6238010

 livercarcinomaSubstitution - coding silent

c.1558C>T; p.L520F; 18:5969476-5969476

 skinmalignant_melanomaSubstitution - Missense

c.738A>G; p.P246P; 18:6238010-6238010

 livercarcinomaSubstitution - coding silent

c.1124G>A; p.G375D; 18:6138269-6138269

 skinmalignant_melanomaSubstitution - Missense

c.442G>A; p.E148K; 18:6243312-6243312

 skinmalignant_melanomaSubstitution - Missense

c.376G>A; p.D126N; 18:6243378-6243378

 skinmalignant_melanomaSubstitution - Missense

c.63C>T; p.D21D; 18:6311563-6311563

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.534A>C; p.L178F; 18:6241376-6241376

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaSubstitution - Missense

c.1471+10A>G; p.?; 18:6046718-6046718

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.1723T>G; p.F575V; 18:5956369-5956369

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.737C>T; p.P246L; 18:6238011-6238011

 skin; anklemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.1617A>G; p.Q539Q; 18:5969417-5969417

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.566C>A; p.S189Y; 18:6239859-6239859

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.461-1G>T; p.?; 18:6241450-6241450

 endometriumcarcinoma; endometrioid_carcinomaUnknown

c.950C>T; p.T317M; 18:6213180-6213180

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

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