| Gene ID | 2139 |
| Symbol | EYA2 |
| Synonymous | EAB1 |
| Full name | EYA transcriptional coactivator and phosphatase 2 |
| Gene description | eyes absent homolog 2 |
| Cytoband | 20q13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:601654; HGNC:HGNC:3520; Ensembl:ENSG00000064655; HPRD:09041; Vega:OTTHUMG00000033041 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.648C>T; p.S216S; 20:47074322-47074322 |
skin | malignant_melanoma | Substitution - coding silent |
c.597G>A; p.T199T; 20:47074271-47074271 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - coding silent |
c.597G>A; p.T199T; 20:47074271-47074271 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.645T>C; p.S215S; 20:47074319-47074319 |
breast | carcinoma | Substitution - coding silent |
c.698C>T; p.A233V; 20:47089275-47089275 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.267T>C; p.P89P; 20:47005053-47005053 |
breast | carcinoma | Substitution - coding silent |
c.809T>C; p.V270A; 20:47097089-47097089 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.809T>C; p.V270A; 20:47097089-47097089 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.277G>T; p.A93S; 20:47005063-47005063 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.290C>T; p.P97L; 20:47005076-47005076 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1192G>A; p.V398I; 20:47172861-47172861 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.293C>T; p.S98F; 20:47005079-47005079 |
skin | malignant_melanoma | Substitution - Missense |
c.631G>A; p.V211I; 20:47074305-47074305 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.847C>T; p.H283Y; 20:47097127-47097127 |
skin | malignant_melanoma | Substitution - Missense |
c.293C>T; p.S98F; 20:47005079-47005079 |
skin | malignant_melanoma | Substitution - Missense |
c.719G>A; p.R240K; 20:47089296-47089296 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.762G>A; p.K254K; 20:47089339-47089339 |
skin | malignant_melanoma | Substitution - coding silent |
c.762G>A; p.K254K; 20:47089339-47089339 |
skin | malignant_melanoma | Substitution - coding silent |
c.921G>A; p.M307I; 20:47143091-47143091 |
skin | malignant_melanoma | Substitution - Missense |
c.921G>A; p.M307I; 20:47143091-47143091 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.1258C>T; p.L420F; 20:47179857-47179857 |
skin | malignant_melanoma | Substitution - Missense |
c.75T>C; p.A25A; 20:46990085-46990085 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.664G>A; p.E222K; 20:47089241-47089241 |
skin | malignant_melanoma | Substitution - Missense |
c.1199G>A; p.G400E; 20:47179798-47179798 |
liver | carcinoma | Substitution - Missense |
c.810G>C; p.V270V; 20:47097090-47097090 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1602G>C; p.E534D; 20:47188118-47188118 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.500C>T; p.P167L; 20:47074174-47074174 |
skin | malignant_melanoma | Substitution - Missense |
c.785C>T; p.A262V; 20:47089362-47089362 |
ovary | other; neoplasm | Substitution - Missense |
c.190A>C; p.T64P; 20:47004976-47004976 |
breast | carcinoma | Substitution - Missense |
c.193G>A; p.A65T; 20:47004979-47004979 |
skin | malignant_melanoma | Substitution - Missense |
c.609C>T; p.V203V; 20:47074283-47074283 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.878G>A; p.R293K; 20:47097158-47097158 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.289C>T; p.P97S; 20:47005075-47005075 |
skin | malignant_melanoma | Substitution - Missense |
c.126C>T; p.A42A; 20:47001444-47001444 |
skin | malignant_melanoma | Substitution - coding silent |
c.1369A>T; p.K457*; 20:47180870-47180870 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.339G>C; p.Q113H; 20:47016221-47016221 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.761A>G; p.K254R; 20:47089338-47089338 |
skin | malignant_melanoma | Substitution - Missense |
c.1436-6G>A; p.?; 20:47183285-47183285 |
stomach | adenocarcinoma | Unknown |
c.738C>T; p.D246D; 20:47089315-47089315 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.738C>T; p.D246D; 20:47089315-47089315 |
thyroid | other; neoplasm | Substitution - coding silent |
c.738C>T; p.D246D; 20:47089315-47089315 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1153C>T; p.R385W; 20:47172822-47172822 |
skin | malignant_melanoma | Substitution - Missense |
c.826G>A; p.D276N; 20:47097106-47097106 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.908G>A; p.R303H; 20:47143078-47143078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.908G>A; p.R303H; 20:47143078-47143078 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.908G>A; p.R303H; 20:47143078-47143078 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1034T>G; p.L345*; 20:47169194-47169194 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.715G>A; p.D239N; 20:47089292-47089292 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1113C>T; p.H371H; 20:47172782-47172782 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.585G>A; p.S195S; 20:47074259-47074259 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1201T>C; p.L401L; 20:47179800-47179800 |
skin | malignant_melanoma | Substitution - coding silent |
c.1160T>G; p.V387G; 20:47172829-47172829 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1160T>G; p.V387G; 20:47172829-47172829 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1160T>G; p.V387G; 20:47172829-47172829 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.144G>T; p.Q48H; 20:47001462-47001462 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1160T>G; p.V387G; 20:47172829-47172829 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1160T>G; p.V387G; 20:47172829-47172829 |
thyroid | other; neoplasm | Substitution - Missense |
c.1160T>G; p.V387G; 20:47172829-47172829 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.502G>A; p.G168S; 20:47074176-47074176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.365G>A; p.S122N; 20:47016247-47016247 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1365G>A; p.L455L; 20:47180866-47180866 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.723G>A; p.P241P; 20:47089300-47089300 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.897G>A; p.T299T; 20:47143067-47143067 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.832A>T; p.T278S; 20:47097112-47097112 |
liver | carcinoma | Substitution - Missense |
c.832A>T; p.T278S; 20:47097112-47097112 |
liver | carcinoma | Substitution - Missense |
c.1053C>T; p.S351S; 20:47172722-47172722 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.813C>T; p.F271F; 20:47097093-47097093 |
skin | malignant_melanoma | Substitution - coding silent |
c.1077C>T; p.A359A; 20:47172746-47172746 |
skin | malignant_melanoma | Substitution - coding silent |
c.377C>T; p.S126L; 20:47016259-47016259 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1003G>A; p.D335N; 20:47169163-47169163 |
skin | malignant_melanoma | Substitution - Missense |
c.580C>A; p.P194T; 20:47074254-47074254 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.722C>A; p.P241Q; 20:47089299-47089299 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.749G>A; p.R250Q; 20:47089326-47089326 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.829G>A; p.E277K; 20:47097109-47097109 |
skin | malignant_melanoma | Substitution - Missense |
c.883G>A; p.G295R; 20:47097163-47097163 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.907C>T; p.R303C; 20:47143077-47143077 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1305C>T; p.I435I; 20:47179904-47179904 |
skin | malignant_melanoma | Substitution - coding silent |
c.1108G>A; p.V370M; 20:47172777-47172777 |
liver | carcinoma | Substitution - Missense |
c.600C>A; p.S200S; 20:47074274-47074274 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1108G>A; p.V370M; 20:47172777-47172777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.445G>A; p.G149R; 20:47072214-47072214 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.941A>G; p.N314S; 20:47143111-47143111 |
skin | malignant_melanoma | Substitution - Missense |
c.1108G>A; p.V370M; 20:47172777-47172777 |
liver | carcinoma | Substitution - Missense |
c.529_530delTA; p.Y177fs*45; 20:47074203-47074204 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1436G>A; p.G479E; 20:47183291-47183291 |
skin | malignant_melanoma | Substitution - Missense |
c.1122G>A; p.V374V; 20:47172791-47172791 |
skin | malignant_melanoma | Substitution - coding silent |
c.1107C>T; p.G369G; 20:47172776-47172776 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1116C>T; p.G372G; 20:47172785-47172785 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1175A>T; p.N392I; 20:47172844-47172844 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.687T>G; p.P229P; 20:47089264-47089264 |
skin | malignant_melanoma | Substitution - coding silent |
c.483G>T; p.Q161H; 20:47072252-47072252 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1058A>G; p.D353G; 20:47172727-47172727 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.981T>G; p.D327E; 20:47169141-47169141 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1022A>C; p.N341T; 20:47169182-47169182 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1184A>G; p.K395R; 20:47172853-47172853 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.860C>T; p.T287M; 20:47097140-47097140 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.358G>T; p.G120C; 20:47016240-47016240 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.860C>T; p.T287M; 20:47097140-47097140 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.860C>T; p.T287M; 20:47097140-47097140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.722C>T; p.P241L; 20:47089299-47089299 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.513G>T; p.Q171H; 20:47074187-47074187 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.728G>T; p.R243L; 20:47089305-47089305 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1050C>A; p.F350L; 20:47172719-47172719 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.931_938delATGATCTT; p.M311fs*11; 20:47143101-47143108 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.653C>T; p.S218L; 20:47074327-47074327 |
skin | malignant_melanoma | Substitution - Missense |
c.741G>A; p.G247G; 20:47089318-47089318 |
skin | malignant_melanoma | Substitution - coding silent |
c.741G>A; p.G247G; 20:47089318-47089318 |
skin | malignant_melanoma | Substitution - coding silent |
c.215C>T; p.T72M; 20:47005001-47005001 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1110G>A; p.V370V; 20:47172779-47172779 |
breast | carcinoma | Substitution - coding silent |
c.372C>A; p.S124R; 20:47016254-47016254 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.52G>A; p.D18N; 20:46990062-46990062 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1182C>T; p.Y394Y; 20:47172851-47172851 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.683G>A; p.G228E; 20:47089260-47089260 |
skin | malignant_melanoma | Substitution - Missense |
c.699G>A; p.A233A; 20:47089276-47089276 |
skin | malignant_melanoma | Substitution - coding silent |
c.468C>T; p.F156F; 20:47072237-47072237 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1473C>T; p.F491F; 20:47183328-47183328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1529C>T; p.A510V; 20:47183384-47183384 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.145C>T; p.L49F; 20:47001463-47001463 |
skin | malignant_melanoma | Substitution - Missense |
c.264A>C; p.P88P; 20:47005050-47005050 |
thyroid | other; neoplasm | Substitution - coding silent |
c.153C>T; p.S51S; 20:47001471-47001471 |
skin | malignant_melanoma | Substitution - coding silent |
c.136G>T; p.V46L; 20:47001454-47001454 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1073C>T; p.S358L; 20:47172742-47172742 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.780C>T; p.S260S; 20:47089357-47089357 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.437G>A; p.G146E; 20:47072206-47072206 |
skin | malignant_melanoma | Substitution - Missense |
c.703G>C; p.E235Q; 20:47089280-47089280 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1119C>A; p.G373G; 20:47172788-47172788 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228G>A; p.A76A; 20:47005014-47005014 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.228G>A; p.A76A; 20:47005014-47005014 |
pancreas | carcinoma | Substitution - coding silent |
c.1458G>C; p.R486S; 20:47183313-47183313 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.174C>T; p.L58L; 20:47004960-47004960 |
skin | malignant_melanoma | Substitution - coding silent |
c.174C>T; p.L58L; 20:47004960-47004960 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.174C>T; p.L58L; 20:47004960-47004960 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.156A>G; p.R52R; 20:47004942-47004942 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902C>T; p.S301F; 20:47143072-47143072 |
skin | malignant_melanoma | Substitution - Missense |
c.959T>C; p.L320P; 20:47143129-47143129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.559G>A; p.V187I; 20:47074233-47074233 |
breast | carcinoma | Substitution - Missense |
c.935T>C; p.I312T; 20:47143105-47143105 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.60G>C; p.L20L; 20:46990070-46990070 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.893C>T; p.T298I; 20:47143063-47143063 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.893C>T; p.T298I; 20:47143063-47143063 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1128G>T; p.W376C; 20:47172797-47172797 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.893C>T; p.T298I; 20:47143063-47143063 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.416-1G>A; p.?; 20:47072184-47072184 |
skin | malignant_melanoma | Unknown |
c.805C>T; p.R269C; 20:47097085-47097085 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.805C>T; p.R269C; 20:47097085-47097085 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.563C>A; p.P188Q; 20:47074237-47074237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1400T>C; p.F467S; 20:47180901-47180901 |
liver | carcinoma | Substitution - Missense |
c.247C>T; p.P83S; 20:47005033-47005033 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.463G>A; p.G155S; 20:47072232-47072232 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.463G>A; p.G155S; 20:47072232-47072232 |
large_intestine | adenoma | Substitution - Missense |
c.196A>G; p.M66V; 20:47004982-47004982 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.215C>A; p.T72K; 20:47005001-47005001 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1283C>T; p.S428F; 20:47179882-47179882 |
skin | malignant_melanoma | Substitution - Missense |
c.933G>T; p.M311I; 20:47143103-47143103 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1461A>G; p.I487M; 20:47183316-47183316 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.236A>T; p.Q79L; 20:47005022-47005022 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.P468S; 20:47180903-47180903 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.844T>G; p.F282V; 20:47097124-47097124 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402C>T; p.P468S; 20:47180903-47180903 |
skin | malignant_melanoma | Substitution - Missense |
c.731C>A; p.A244D; 20:47089308-47089308 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1082G>A; p.G361E; 20:47172751-47172751 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.896C>A; p.T299K; 20:47143066-47143066 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.589C>T; p.L197F; 20:47074263-47074263 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1593C>T; p.H531H; 20:47188109-47188109 |
thyroid | other; neoplasm | Substitution - coding silent |
c.4G>A; p.V2I; 20:46990014-46990014 |
skin | malignant_melanoma | Substitution - Missense |
c.864G>A; p.G288G; 20:47097144-47097144 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1054G>T; p.A352S; 20:47172723-47172723 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.1147C>T; p.R383C; 20:47172816-47172816 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.584C>T; p.S195L; 20:47074258-47074258 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.584C>T; p.S195L; 20:47074258-47074258 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.584C>T; p.S195L; 20:47074258-47074258 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1287G>A; p.L429L; 20:47179886-47179886 |
NS | NS | Substitution - coding silent |
c.330C>T; p.S110S; 20:47016212-47016212 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.330C>T; p.S110S; 20:47016212-47016212 |
skin | malignant_melanoma | Substitution - coding silent |
c.1114G>C; p.G372R; 20:47172783-47172783 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537C>T; p.H513Y; 20:47188053-47188053 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.710A>T; p.D237V; 20:47089287-47089287 |
breast | carcinoma | Substitution - Missense |
c.156-1G>C; p.?; 20:47004941-47004941 |
urinary_tract; bladder | carcinoma | Unknown |
c.509C>A; p.P170H; 20:47074183-47074183 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.524C>T; p.P175L; 20:47074198-47074198 |
skin | malignant_melanoma | Substitution - Missense |
c.1157G>T; p.R386L; 20:47172826-47172826 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.524C>T; p.P175L; 20:47074198-47074198 |
skin | malignant_melanoma | Substitution - Missense |
c.1530G>A; p.A510A; 20:47183385-47183385 |
skin | malignant_melanoma | Substitution - coding silent |
c.356A>G; p.Y119C; 20:47016238-47016238 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.298+1G>C; p.?; 20:47005085-47005085 |
pancreas | carcinoma | Unknown |