Cancer metastasis database

Annotation category 5

Gene information

Gene ID 1048
Symbol

CEACAM5

Synonymous

CD66e|CEA

Full name

carcinoembryonic antigen-related cell adhesion molecule 5

Gene description

meconium antigen 100

Cytoband

19q13.1-q13.2

Gene type

protein-coding

Synonymous

MIM:114890; HGNC:HGNC:1817; Ensembl:ENSG00000105388; HPRD:00274; Vega:OTTHUMG00000151061

COSMIC somatic mutation

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1359G>A; p.G453G; 19:41718249-41718249

skinmalignant_melanomaSubstitution - coding silent

c.1792A>G; p.I598V; 19:41720942-41720942

livercarcinomaSubstitution - Missense

c.757G>A; p.E253K; 19:41715703-41715703

skinmalignant_melanomaSubstitution - Missense

c.757G>A; p.E253K; 19:41715703-41715703

skinmalignant_melanomaSubstitution - Missense

c.1999T>C; p.S667P; 19:41721149-41721149

skinmalignant_melanomaSubstitution - Missense

c.512C>A; p.T171N; 19:41715058-41715058

skin; solemalignant_melanoma; acral_lentiginousSubstitution - Missense

c.1832T>C; p.L611P; 19:41720982-41720982

large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1809G>A; p.S603S; 19:41720959-41720959

central_nervous_system; braingliomaSubstitution - coding silent

c.122C>G; p.T41R; 19:41709737-41709737

breastcarcinomaSubstitution - Missense

c.959-8C>A; p.?; 19:41717447-41717447

biliary_tract; gallbladdercarcinoma; adenocarcinomaUnknown

c.1808C>T; p.S603L; 19:41720958-41720958

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.90G>T; p.P30P; 19:41709705-41709705

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.875A>G; p.N292S; 19:41715821-41715821

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1976A>G; p.N659S; 19:41721126-41721126

skin; extremitymalignant_melanomaSubstitution - Missense

c.1659C>A; p.N553K; 19:41720096-41720096

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.715G>A; p.A239T; 19:41715661-41715661

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.199T>A; p.W67R; 19:41709814-41709814

autonomic_ganglianeuroblastomaSubstitution - Missense

c.517G>A; p.D173N; 19:41715063-41715063

breastcarcinoma; ductal_carcinomaSubstitution - Missense

c.1009G>A; p.D337N; 19:41717505-41717505

breastcarcinomaSubstitution - Missense

c.1820C>T; p.S607L; 19:41720970-41720970

skin; trunkmalignant_melanomaSubstitution - Missense

c.1820C>T; p.S607L; 19:41720970-41720970

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1820C>T; p.S607L; 19:41720970-41720970

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1820C>T; p.S607L; 19:41720970-41720970

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.710C>T; p.P237L; 19:41715656-41715656

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1270T>C; p.Y424H; 19:41718160-41718160

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1005G>A; p.V335V; 19:41717501-41717501

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.710C>T; p.P237L; 19:41715656-41715656

livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.1795_1796insC; p.D602fs*19; 19:41720945-41720946

large_intestine; coloncarcinoma; adenocarcinomaInsertion - Frameshift

c.2039C>T; p.S680F; 19:41727246-41727246

skinmalignant_melanomaSubstitution - Missense

c.1236C>T; p.L412L; 19:41717732-41717732

skinmalignant_melanomaSubstitution - coding silent

c.1548G>A; p.K516K; 19:41719985-41719985

skinmalignant_melanomaSubstitution - coding silent

c.1257C>T; p.T419T; 19:41718147-41718147

skinmalignant_melanomaSubstitution - coding silent

c.1815C>T; p.Y605Y; 19:41720965-41720965

skinmalignant_melanomaSubstitution - coding silent

c.1742G>A; p.R581H; 19:41720179-41720179

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.771C>A; p.L257L; 19:41715717-41715717

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - coding silent

c.1742G>A; p.R581H; 19:41720179-41720179

kidneycarcinoma; papillary_renal_cell_carcinomaSubstitution - Missense

c.1695C>T; p.D565D; 19:41720132-41720132

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.91C>A; p.P31T; 19:41709706-41709706

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.963G>A; p.E321E; 19:41717459-41717459

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1973C>T; p.S658F; 19:41721123-41721123

skinmalignant_melanomaSubstitution - Missense

c.229C>T; p.R77C; 19:41709844-41709844

central_nervous_system; braingliomaSubstitution - Missense

c.1318G>C; p.A440P; 19:41718208-41718208

soft_tissue; striated_musclerhabdomyosarcomaSubstitution - Missense

c.1826C>T; p.A609V; 19:41720976-41720976

ovaryother; neoplasmSubstitution - Missense

c.65-2A>G; p.?; 19:41709678-41709678

large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.1871A>T; p.Q624L; 19:41721021-41721021

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.297G>A; p.E99E; 19:41709912-41709912

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.254G>A; p.G85E; 19:41709869-41709869

skinmalignant_melanomaSubstitution - Missense

c.274G>C; p.G92R; 19:41709889-41709889

thyroidcarcinomaSubstitution - Missense

c.1696G>A; p.A566T; 19:41720133-41720133

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.220G>A; p.D74N; 19:41709835-41709835

skinmalignant_melanomaSubstitution - Missense

c.604C>A; p.L202I; 19:41715150-41715150

lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.1307C>T; p.S436F; 19:41718197-41718197

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1827G>A; p.A609A; 19:41720977-41720977

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1827G>A; p.A609A; 19:41720977-41720977

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.761A>T; p.N254I; 19:41715707-41715707

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1819T>C; p.S607P; 19:41720969-41720969

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1668C>T; p.L556L; 19:41720105-41720105

skinmalignant_melanomaSubstitution - coding silent

c.278_279CC>TT; p.P93L; 19:41709893-41709894

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1727C>T; p.S576L; 19:41720164-41720164

skinmalignant_melanomaSubstitution - Missense

c.585T>C; p.N195N; 19:41715131-41715131

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1549G>A; p.D517N; 19:41719986-41719986

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1727C>T; p.S576L; 19:41720164-41720164

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.424C>G; p.P142A; 19:41710039-41710039

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1002C>T; p.P334P; 19:41717498-41717498

urinary_tract; bladdercarcinomaSubstitution - coding silent

c.1002C>T; p.P334P; 19:41717498-41717498

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - coding silent

c.110C>T; p.T37I; 19:41709725-41709725

haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphomaSubstitution - Missense

c.1517C>A; p.S506Y; 19:41719954-41719954

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.879T>C; p.N293N; 19:41715825-41715825

lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.557C>T; p.P186L; 19:41715103-41715103

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1646T>A; p.L549Q; 19:41720083-41720083

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.293G>T; p.R98L; 19:41709908-41709908

urinary_tract; bladdercarcinomaSubstitution - Missense

c.498C>A; p.T166T; 19:41715044-41715044

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.2093G>T; p.G698V; 19:41727300-41727300

skinmalignant_melanomaSubstitution - Missense

c.2067C>T; p.V689V; 19:41727274-41727274

skinmalignant_melanomaSubstitution - coding silent

c.1789A>T; p.I597F; 19:41720939-41720939

urinary_tract; bladdercarcinomaSubstitution - Missense

c.211G>A; p.E71K; 19:41709826-41709826

skinmalignant_melanomaSubstitution - Missense

c.1938G>A; p.T646T; 19:41721088-41721088

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.177C>A; p.P59P; 19:41709792-41709792

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.1265C>T; p.P422L; 19:41718155-41718155

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.755G>A; p.G252E; 19:41715701-41715701

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.1537G>A; p.V513M; 19:41719974-41719974

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.702C>T; p.L234L; 19:41715248-41715248

skinmalignant_melanomaSubstitution - coding silent

c.469G>A; p.V157M; 19:41715015-41715015

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1737A>C; p.A579A; 19:41720174-41720174

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.469G>A; p.V157M; 19:41715015-41715015

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1383G>T; p.E461D; 19:41718273-41718273

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1130C>A; p.T377N; 19:41717626-41717626

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1154G>A; p.R385K; 19:41717650-41717650

skin; acralmalignant_melanomaSubstitution - Missense

c.1776G>A; p.G592G; 19:41720926-41720926

thyroidcarcinomaSubstitution - coding silent

c.797C>A; p.P266H; 19:41715743-41715743

oesophagus; middle_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2060C>T; p.A687V; 19:41727267-41727267

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1918C>A; p.L640I; 19:41721068-41721068

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1918C>A; p.L640I; 19:41721068-41721068

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1918C>A; p.L640I; 19:41721068-41721068

large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1950C>T; p.N650N; 19:41721100-41721100

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.227A>C; p.N76T; 19:41709842-41709842

large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.1898C>T; p.P633L; 19:41721048-41721048

ovarycarcinoma; serous_carcinomaSubstitution - Missense

c.1526A>C; p.N509T; 19:41719963-41719963

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1861C>A; p.P621T; 19:41721011-41721011

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1888A>G; p.N630D; 19:41721038-41721038

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1439A>C; p.N480T; 19:41718329-41718329

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.551G>A; p.S184N; 19:41715097-41715097

skin; armmalignant_melanomaSubstitution - Missense

c.1601G>A; p.W534*; 19:41720038-41720038

skin; handcarcinoma; squamous_cell_carcinomaSubstitution - Nonsense

c.586G>C; p.G196R; 19:41715132-41715132

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.425C>A; p.P142Q; 19:41714971-41714971

lungcarcinoma; small_cell_carcinomaSubstitution - Missense

c.209G>C; p.G70A; 19:41709824-41709824

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1840T>C; p.S614P; 19:41720990-41720990

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.471G>A; p.V157V; 19:41715017-41715017

skinmalignant_melanomaSubstitution - coding silent

c.1003G>A; p.V335M; 19:41717499-41717499

thyroidother; neoplasmSubstitution - Missense

c.537G>T; p.W179C; 19:41715083-41715083

oesophagus; lower_thirdcarcinoma; adenocarcinomaSubstitution - Missense

c.1417G>A; p.G473R; 19:41718307-41718307

urinary_tract; bladdercarcinomaSubstitution - Missense

c.1417G>A; p.G473R; 19:41718307-41718307

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.2025T>A; p.S675S; 19:41721175-41721175

lungcarcinoma; small_cell_carcinomaSubstitution - coding silent

c.77C>A; p.T26N; 19:41709692-41709692

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1183A>C; p.I395L; 19:41717679-41717679

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.893C>T; p.T298M; 19:41715839-41715839

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.571C>T; p.L191L; 19:41715117-41715117

skinmalignant_melanomaSubstitution - coding silent

c.893C>T; p.T298M; 19:41715839-41715839

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.893C>T; p.T298M; 19:41715839-41715839

haematopoietic_and_lymphoid_tissue; spleenlymphoid_neoplasm; marginal_zone_lymphomaSubstitution - Missense

c.334A>G; p.I112V; 19:41709949-41709949

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1348C>T; p.L450L; 19:41718238-41718238

skinmalignant_melanomaSubstitution - coding silent

c.1796C>T; p.S599F; 19:41720946-41720946

skinmalignant_melanomaSubstitution - Missense

c.1796C>T; p.S599F; 19:41720946-41720946

skinmalignant_melanomaSubstitution - Missense

c.830T>G; p.F277C; 19:41715776-41715776

livercarcinomaSubstitution - Missense

c.830T>G; p.F277C; 19:41715776-41715776

livercarcinomaSubstitution - Missense

c.1593C>T; p.T531T; 19:41720030-41720030

skinmalignant_melanomaSubstitution - coding silent

c.2080G>A; p.G694R; 19:41727287-41727287

urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.317C>T; p.S106F; 19:41709932-41709932

skinmalignant_melanomaSubstitution - Missense

c.1663A>G; p.T555A; 19:41720100-41720100

skinmalignant_melanomaSubstitution - Missense

c.414C>G; p.F138L; 19:41710029-41710029

upper_aerodigestive_tract; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.317C>T; p.S106F; 19:41709932-41709932

skinmalignant_melanomaSubstitution - Missense

c.672G>A; p.R224R; 19:41715218-41715218

bone; extraskeletalEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.414C>G; p.F138L; 19:41710029-41710029

upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1778C>T; p.P593L; 19:41720928-41720928

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1573C>T; p.P525S; 19:41720010-41720010

skinmalignant_melanomaSubstitution - Missense

c.818T>G; p.V273G; 19:41715764-41715764

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.151G>C; p.V51L; 19:41709766-41709766

oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.327C>T; p.I109I; 19:41709942-41709942

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.480G>A; p.K160K; 19:41715026-41715026

skinmalignant_melanomaSubstitution - coding silent

c.1329A>C; p.P443P; 19:41718219-41718219

breastcarcinomaSubstitution - coding silent

c.945G>A; p.T315T; 19:41715891-41715891

skin; trunkmalignant_melanoma; nodularSubstitution - coding silent

c.2047C>T; p.L683F; 19:41727254-41727254

skinmalignant_melanomaSubstitution - Missense

c.758A>G; p.E253G; 19:41715704-41715704

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.632C>A; p.A211E; 19:41715178-41715178

lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1836C>A; p.N612K; 19:41720986-41720986

ovaryother; neoplasmSubstitution - Missense

c.1563C>T; p.F521F; 19:41720000-41720000

skinmalignant_melanomaSubstitution - coding silent

c.994T>G; p.S332A; 19:41717490-41717490

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1100C>T; p.P367L; 19:41717596-41717596

skinmalignant_melanomaSubstitution - Missense

c.1100C>T; p.P367L; 19:41717596-41717596

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1642C>T; p.Q548*; 19:41720079-41720079

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.1011T>C; p.D337D; 19:41717507-41717507

endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.535T>C; p.W179R; 19:41715081-41715081

skinmalignant_melanomaSubstitution - Missense

c.416G>A; p.R139Q; 19:41710031-41710031

skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.2076G>T; p.M692I; 19:41727283-41727283

adrenal_gland; adrenal_glandadrenal_cortical_carcinoma; functioningSubstitution - Missense

c.566C>A; p.P189H; 19:41715112-41715112

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1850C>T; p.S617L; 19:41721000-41721000

central_nervous_system; posterior_fossaglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1140A>G; p.L380L; 19:41717636-41717636

stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.625G>A; p.D209N; 19:41715171-41715171

endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1246G>A; p.D416N; 19:41718136-41718136

skinmalignant_melanomaSubstitution - Missense

c.129C>T; p.F43F; 19:41709744-41709744

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.2027-8C>T; p.?; 19:41727226-41727226

kidneyother; neoplasmUnknown

c.468C>A; p.P156P; 19:41715014-41715014

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.2024C>T; p.S675F; 19:41721174-41721174

haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.1535C>T; p.P512L; 19:41719972-41719972

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.673C>T; p.R225C; 19:41715219-41715219

biliary_tract; bile_ductcarcinoma; adenocarcinomaSubstitution - Missense

c.673C>T; p.R225C; 19:41715219-41715219

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.673C>T; p.R225C; 19:41715219-41715219

large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1262C>T; p.S421F; 19:41718152-41718152

skinmalignant_melanomaSubstitution - Missense

c.472G>A; p.E158K; 19:41715018-41715018

skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1430G>T; p.C477F; 19:41718320-41718320

lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.887C>T; p.S296F; 19:41715833-41715833

skinmalignant_melanomaSubstitution - Missense

c.333C>T; p.N111N; 19:41709948-41709948

lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.481G>A; p.D161N; 19:41715027-41715027

skinmalignant_melanomaSubstitution - Missense

c.924C>A; p.L308L; 19:41715870-41715870

kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.481G>A; p.D161N; 19:41715027-41715027

skinmalignant_melanomaSubstitution - Missense

c.1227G>A; p.L409L; 19:41717723-41717723

skinmalignant_melanomaSubstitution - coding silent

c.410A>C; p.Q137P; 19:41710025-41710025

stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1120G>T; p.D374Y; 19:41717616-41717616

prostateadenomaSubstitution - Missense

c.519C>T; p.D173D; 19:41715065-41715065

central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - coding silent

c.1767C>T; p.V589V; 19:41720204-41720204

boneEwings_sarcoma-peripheral_primitive_neuroectodermal_tumourSubstitution - coding silent

c.2058G>A; p.G686G; 19:41727265-41727265

skinmalignant_melanomaSubstitution - coding silent

c.1085G>A; p.S362N; 19:41717581-41717581

skinmalignant_melanomaSubstitution - Missense

c.89C>T; p.P30L; 19:41709704-41709704

breastcarcinomaSubstitution - Missense

c.1397A>G; p.N466S; 19:41718287-41718287

skin; upper_backmalignant_melanomaSubstitution - Missense

c.538G>A; p.V180I; 19:41715084-41715084

skinmalignant_melanomaSubstitution - Missense

c.406G>A; p.G136S; 19:41710021-41710021

lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense