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

Basic Information

Gene ID

3172

Name

HNF4A

Synonymous

hepatocyte nuclear factor 4, alpha;HNF4A;hepatocyte nuclear factor 4, alpha

Definition

HNF4alpha10/11/12|TCF-14|hepatic nuclear factor 4 alpha|hepatocyte nuclear factor 4-alpha|nuclear receptor subfamily 2 group A member 1|transcription factor 14|transcription factor HNF-4

Position

20q13.12

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 0.07.

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.989C>G; p.S330W; 20:44424114-44424114

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1309C>T; p.P437S; 20:44429549-44429549

 skinmalignant_melanomaSubstitution - Missense

c.375G>A; p.M125I; 20:44407465-44407465

 livercarcinomaSubstitution - Missense

c.192G>A; p.G64G; 20:44406134-44406134

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.989C>G; p.S330W; 20:44424114-44424114

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - Missense

c.189C>T; p.C63C; 20:44406131-44406131

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.234C>T; p.D78D; 20:44406176-44406176

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1300C>T; p.Q434*; 20:44429540-44429540

 thyroidother; neoplasmSubstitution - Nonsense

c.1178T>C; p.L393P; 20:44428383-44428383

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.493-1G>A; p.?; 20:44414506-44414506

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.1178T>C; p.L393P; 20:44428383-44428383

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.601T>A; p.W201R; 20:44414615-44414615

 thyroidcarcinomaSubstitution - Missense

c.991C>G; p.R331G; 20:44424116-44424116

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.191G>T; p.G64V; 20:44406133-44406133

 lung; left_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.148G>A; p.A50T; 20:44406090-44406090

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.281A>G; p.Y94C; 20:44406223-44406223

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.303G>T; p.Q101H; 20:44407393-44407393

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.915A>C; p.P305P; 20:44424040-44424040

 skinmalignant_melanomaSubstitution - coding silent

c.104C>A; p.T35K; 20:44401476-44401476

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.915A>C; p.P305P; 20:44424040-44424040

 skinmalignant_melanomaSubstitution - coding silent

c.882C>A; p.F294L; 20:44419866-44419866

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.882C>A; p.F294L; 20:44419866-44419866

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1223T>C; p.M408T; 20:44428428-44428428

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.473C>T; p.A158V; 20:44413781-44413781

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.473C>T; p.A158V; 20:44413781-44413781

 oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1066C>T; p.Q356*; 20:44424191-44424191

 skinmalignant_melanomaSubstitution - Nonsense

c.1273G>A; p.G425R; 20:44428478-44428478

 skinmalignant_melanomaSubstitution - Missense

c.1243G>A; p.G415R; 20:44428448-44428448

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1243G>A; p.G415R; 20:44428448-44428448

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.129A>G; p.S43S; 20:44406071-44406071

 skinmalignant_melanomaSubstitution - coding silent

c.177G>C; p.L59L; 20:44406119-44406119

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.203C>T; p.T68M; 20:44406145-44406145

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1138A>G; p.S380G; 20:44428343-44428343

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.843C>T; p.I281I; 20:44419827-44419827

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.520G>A; p.G174S; 20:44414534-44414534

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.204G>A; p.T68T; 20:44406146-44406146

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1159C>T; p.H387Y; 20:44428364-44428364

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1357G>A; p.V453I; 20:44429597-44429597

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.100T>A; p.L34M; 20:44401472-44401472

 skinmalignant_melanomaSubstitution - Missense

c.403G>A; p.D135N; 20:44413711-44413711

 skinmalignant_melanomaSubstitution - Missense

c.273C>A; p.N91K; 20:44406215-44406215

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.333G>T; p.Q111H; 20:44407423-44407423

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.333G>T; p.Q111H; 20:44407423-44407423

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.333G>T; p.Q111H; 20:44407423-44407423

 large_intestine; coloncarcinomaSubstitution - Missense

c.333G>T; p.Q111H; 20:44407423-44407423

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.637C>A; p.L213M; 20:44414651-44414651

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.483G>C; p.L161L; 20:44413791-44413791

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.1022_1024delTGC; p.L341delL; 20:44424147-44424149

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; mantle_cell_lymphomaDeletion - In frame

c.977G>A; p.R326H; 20:44424102-44424102

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1022_1024delTGC; p.L341delL; 20:44424147-44424149

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaDeletion - In frame

c.1199C>T; p.T400I; 20:44428404-44428404

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1297C>A; p.P433T; 20:44429537-44429537

 thyroidother; neoplasmSubstitution - Missense

c.1215C>A; p.A405A; 20:44428420-44428420

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.274C>A; p.H92N; 20:44406216-44406216

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.940C>T; p.Q314*; 20:44424065-44424065

 skinmalignant_melanomaSubstitution - Nonsense

c.408G>A; p.R136R; 20:44413716-44413716

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1182G>A; p.M394I; 20:44428387-44428387

 skinmalignant_melanomaSubstitution - Missense

c.1182G>A; p.M394I; 20:44428387-44428387

 skinmalignant_melanomaSubstitution - Missense

c.909C>T; p.S303S; 20:44424034-44424034

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.143T>G; p.L48R; 20:44406085-44406085

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.160C>A; p.L54M; 20:44406102-44406102

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.444C>T; p.S148S; 20:44413752-44413752

 skinmalignant_melanomaSubstitution - coding silent

c.1057G>A; p.E353K; 20:44424182-44424182

 skinmalignant_melanomaSubstitution - Missense

c.966C>T; p.Y322Y; 20:44424091-44424091

 breastcarcinomaSubstitution - coding silent

c.1022T>C; p.L341P; 20:44424147-44424147

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.869A>C; p.K290T; 20:44419853-44419853

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.280T>C; p.Y94H; 20:44406222-44406222

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.172G>A; p.A58T; 20:44406114-44406114

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1424A>G; p.*475W; 20:44429664-44429664

 oesophaguscarcinoma; adenocarcinomaNonstop extension

c.523G>A; p.D175N; 20:44414537-44414537

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1297C>T; p.P433S; 20:44429537-44429537

 skinmalignant_melanomaSubstitution - Missense

c.1083C>T; p.F361F; 20:44424208-44424208

 skinmalignant_melanomaSubstitution - coding silent

c.1283-2A>T; p.?; 20:44429521-44429521

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.25G>A; p.D9N; 20:44401397-44401397

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.387C>T; p.A129A; 20:44413695-44413695

 pancreascarcinomaSubstitution - coding silent

c.56T>C; p.L19P; 20:44401428-44401428

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.529C>T; p.R177W; 20:44414543-44414543

 skinmalignant_melanomaSubstitution - Missense

c.387C>T; p.A129A; 20:44413695-44413695

 pancreascarcinomaSubstitution - coding silent

c.387C>T; p.A129A; 20:44413695-44413695

 pancreascarcinoma; ductal_carcinomaSubstitution - coding silent

c.685_686delCT; p.L229fs*19; 20:44418461-44418462

 livercarcinomaDeletion - Frameshift

c.1204G>C; p.V402L; 20:44428409-44428409

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.181G>C; p.A61P; 20:44406123-44406123

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1179G>A; p.L393L; 20:44428384-44428384

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1204G>C; p.V402L; 20:44428409-44428409

 lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.1414G>A; p.E472K; 20:44429654-44429654

 skinmalignant_melanomaSubstitution - Missense

c.1414G>A; p.E472K; 20:44429654-44429654

 skinmalignant_melanomaSubstitution - Missense

c.345C>G; p.C115W; 20:44407435-44407435

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1126G>A; p.G376R; 20:44424251-44424251

 skinmalignant_melanomaSubstitution - Missense

c.388G>A; p.V130I; 20:44413696-44413696

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.418C>T; p.R140*; 20:44413726-44413726

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Nonsense

c.1265G>A; p.R422Q; 20:44428470-44428470

 skinmalignant_melanomaSubstitution - Missense

c.1251G>A; p.M417I; 20:44428456-44428456

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.844G>A; p.D282N; 20:44419828-44419828

 skinmalignant_melanomaSubstitution - Missense

c.262G>T; p.V88L; 20:44406204-44406204

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.147C>T; p.N49N; 20:44406089-44406089

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.912T>A; p.D304E; 20:44424037-44424037

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.2T>C; p.M1T; 20:44401374-44401374

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1355C>A; p.A452D; 20:44429595-44429595

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.632T>C; p.L211P; 20:44414646-44414646

 skin; mucosalmalignant_melanomaSubstitution - Missense

c.173_174CC>TT; p.A58V; 20:44406115-44406116

 skinmalignant_melanomaSubstitution - Missense

c.939C>T; p.S313S; 20:44424064-44424064

 skinmalignant_melanomaSubstitution - coding silent

c.580C>T; p.Q194*; 20:44414594-44414594

 pancreascarcinomaSubstitution - Nonsense

c.1295C>T; p.T432I; 20:44429535-44429535

 skinmalignant_melanomaSubstitution - Missense

c.253C>T; p.R85W; 20:44406195-44406195

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1086C>T; p.G362G; 20:44424211-44424211

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.337C>G; p.R113G; 20:44407427-44407427

 breastcarcinomaSubstitution - Missense

c.236G>C; p.G79A; 20:44406178-44406178

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.192_193GG>AA; p.D65N; 20:44406134-44406135

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.102G>A; p.L34L; 20:44401474-44401474

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.368C>T; p.A123V; 20:44407458-44407458

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.677A>T; p.E226V; 20:44418453-44418453

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.116-2A>G; p.?; 20:44406056-44406056

 pancreascarcinoid-endocrine_tumourUnknown

c.252C>T; p.F84F; 20:44406194-44406194

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1139G>A; p.S380N; 20:44428344-44428344

 skinmalignant_melanomaSubstitution - Missense

c.788G>A; p.R263Q; 20:44419772-44419772

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1244G>A; p.G415E; 20:44428449-44428449

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.989C>T; p.S330L; 20:44424114-44424114

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1244G>A; p.G415E; 20:44428449-44428449

 skinmalignant_melanomaSubstitution - Missense

c.73A>T; p.T25S; 20:44401445-44401445

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1274G>A; p.G425E; 20:44428479-44428479

 skin; extremitymalignant_melanomaSubstitution - Missense

c.152C>G; p.P51R; 20:44406094-44406094

 ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.487C>G; p.R163G; 20:44413795-44413795

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.146A>T; p.N49I; 20:44406088-44406088

 lungcarcinomaSubstitution - Missense

c.249C>T; p.F83F; 20:44406191-44406191

 skinmalignant_melanomaSubstitution - coding silent

c.388G>C; p.V130L; 20:44413696-44413696

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.146A>T; p.N49I; 20:44406088-44406088

 lungcarcinomaSubstitution - Missense

c.575A>C; p.K192T; 20:44414589-44414589

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.319G>T; p.D107Y; 20:44407409-44407409

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.216C>T; p.Y72Y; 20:44406158-44406158

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.80A>C; p.E27A; 20:44401452-44401452

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1264C>T; p.R422*; 20:44428469-44428469

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.598G>A; p.E200K; 20:44414612-44414612

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.1272G>A; p.R424R; 20:44428477-44428477

 skinmalignant_melanomaSubstitution - coding silent

c.1375C>A; p.P459T; 20:44429615-44429615

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.800G>A; p.R267H; 20:44419784-44419784

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.573G>A; p.M191I; 20:44414587-44414587

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.454A>T; p.I152F; 20:44413762-44413762

 breastcarcinomaSubstitution - Missense

c.382G>A; p.E128K; 20:44407472-44407472

 skinmalignant_melanomaSubstitution - Missense

c.492G>T; p.Q164H; 20:44413800-44413800

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1142A>T; p.D381V; 20:44428347-44428347

 thyroidcarcinomaSubstitution - Missense

c.1422C>A; p.I474I; 20:44429662-44429662

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.768G>A; p.P256P; 20:44419752-44419752

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.961G>A; p.D321N; 20:44424086-44424086

 skinmalignant_melanomaSubstitution - Missense

c.1302G>A; p.Q434Q; 20:44429542-44429542

 skinmalignant_melanomaSubstitution - coding silent

c.1242C>T; p.N414N; 20:44428447-44428447

 skinmalignant_melanomaSubstitution - coding silent

c.461C>T; p.A154V; 20:44413769-44413769

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1141G>A; p.D381N; 20:44428346-44428346

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1325G>A; p.G442E; 20:44429565-44429565

 skinmalignant_melanomaSubstitution - Missense

c.595G>A; p.V199I; 20:44414609-44414609

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1252T>A; p.C418S; 20:44428457-44428457

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1252T>A; p.C418S; 20:44428457-44428457

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1209C>T; p.I403I; 20:44428414-44428414

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1225C>T; p.P409S; 20:44428430-44428430

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.533C>T; p.A178V; 20:44414547-44414547

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.692G>A; p.G231E; 20:44418468-44418468

 skinmalignant_melanomaSubstitution - Missense

c.490C>T; p.Q164*; 20:44413798-44413798

 livercarcinomaSubstitution - Nonsense

c.372C>T; p.G124G; 20:44407462-44407462

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.173C>T; p.A58V; 20:44406115-44406115

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.724G>A; p.V242M; 20:44418500-44418500

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1314A>T; p.P438P; 20:44429554-44429554

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.435G>A; p.E145E; 20:44413743-44413743

 skinmalignant_melanomaSubstitution - coding silent

c.378G>A; p.K126K; 20:44407468-44407468

 breastcarcinomaSubstitution - coding silent

c.1315G>T; p.G439C; 20:44429555-44429555

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1234C>T; p.L412F; 20:44428439-44428439

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.910G>A; p.D304N; 20:44424035-44424035

 skinmalignant_melanomaSubstitution - Missense

c.1234C>T; p.L412F; 20:44428439-44428439

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

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