| Gene ID | 91937 |
| Symbol | TIMD4 |
| Synonymous | SMUCKLER|TIM4 |
| Full name | T-cell immunoglobulin and mucin domain containing 4 |
| Gene description | T-cell immunoglobulin and mucin domain-containing protein 4|T-cell immunoglobulin mucin receptor 4|T-cell membrane protein 4|TIM-4|TIMD-4 |
| Cytoband | 5q33.3 |
| Gene type | protein-coding |
| Synonymous | MIM:610096; HGNC:HGNC:25132; Ensembl:ENSG00000145850; HPRD:15508; Vega:OTTHUMG00000130244 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.338G>A; p.R113H; 5:156954477-156954477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.262G>T; p.G88W; 5:156954553-156954553 |
skin | malignant_melanoma | Substitution - Missense |
c.460C>A; p.P154T; 5:156951731-156951731 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.608G>A; p.S203N; 5:156951583-156951583 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.123G>C; p.L41L; 5:156954692-156954692 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.984C>T; p.F328F; 5:156922127-156922127 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.13C>A; p.P5T; 5:156963186-156963186 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.984C>T; p.F328F; 5:156922127-156922127 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.363C>T; p.N121N; 5:156954452-156954452 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.277G>A; p.G93S; 5:156954538-156954538 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.537C>T; p.T179T; 5:156951654-156951654 |
ovary | other; neoplasm | Substitution - coding silent |
c.275G>T; p.R92I; 5:156954540-156954540 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.693C>T; p.V231V; 5:156949718-156949718 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1019T>A; p.L340H; 5:156920497-156920497 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.33G>A; p.M11I; 5:156963166-156963166 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.86C>T; p.T29M; 5:156954729-156954729 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.86C>T; p.T29M; 5:156954729-156954729 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.86C>T; p.T29M; 5:156954729-156954729 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.86C>T; p.T29M; 5:156954729-156954729 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.892C>A; p.Q298K; 5:156926265-156926265 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.582A>G; p.A194A; 5:156951609-156951609 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.86C>T; p.T29M; 5:156954729-156954729 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1060T>A; p.Y354N; 5:156919534-156919534 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.845C>T; p.A282V; 5:156926312-156926312 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.187G>A; p.G63S; 5:156954628-156954628 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.844G>T; p.A282S; 5:156948416-156948416 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.364G>A; p.D122N; 5:156954451-156954451 |
skin | malignant_melanoma | Substitution - Missense |
c.364G>A; p.D122N; 5:156954451-156954451 |
skin | malignant_melanoma | Substitution - Missense |
c.323G>T; p.G108V; 5:156954492-156954492 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.273G>A; p.P91P; 5:156954542-156954542 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.10G>T; p.E4*; 5:156963189-156963189 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.484A>G; p.T162A; 5:156951707-156951707 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.468delC; p.T157fs*4; 5:156951723-156951723 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.440G>A; p.R147H; 5:156951751-156951751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.440G>A; p.R147H; 5:156951751-156951751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1052+9T>A; p.?; 5:156920455-156920455 |
pancreas | carcinoma | Unknown |
c.440G>A; p.R147H; 5:156951751-156951751 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.835C>T; p.Q279*; 5:156948425-156948425 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.513C>T; p.V171V; 5:156951678-156951678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.729T>G; p.T243T; 5:156949682-156949682 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.101A>C; p.H34P; 5:156954714-156954714 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.172C>T; p.Q58*; 5:156954643-156954643 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.547C>A; p.L183I; 5:156951644-156951644 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.212C>A; p.T71N; 5:156954603-156954603 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>A; p.G374S; 5:156919474-156919474 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.227T>G; p.V76G; 5:156954588-156954588 |
central_nervous_system; occipital_lobe | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.251A>G; p.Y84C; 5:156954564-156954564 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.494C>A; p.A165D; 5:156951697-156951697 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.208C>T; p.R70C; 5:156954607-156954607 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.419G>A; p.R140K; 5:156951772-156951772 |
skin | malignant_melanoma | Substitution - Missense |
c.162G>A; p.W54*; 5:156954653-156954653 |
skin | malignant_melanoma | Substitution - Nonsense |
c.233C>G; p.S78*; 5:156954582-156954582 |
NS | NS | Substitution - Nonsense |
c.165G>C; p.G55G; 5:156954650-156954650 |
skin | malignant_melanoma | Substitution - coding silent |
c.1121G>A; p.G374D; 5:156919473-156919473 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1121G>A; p.G374D; 5:156919473-156919473 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.901_902GG>AT; p.G301I; 5:156922209-156922210 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.925G>T; p.E309*; 5:156922186-156922186 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.106G>A; p.V36M; 5:156954709-156954709 |
breast | carcinoma | Substitution - Missense |
c.886A>C; p.T296P; 5:156926271-156926271 |
thyroid | other; neoplasm | Substitution - Missense |
c.259C>T; p.Q87*; 5:156954556-156954556 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.746T>G; p.L249R; 5:156949665-156949665 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.131C>T; p.S44F; 5:156954684-156954684 |
skin | malignant_melanoma | Substitution - Missense |
c.152G>A; p.S51N; 5:156954663-156954663 |
skin | malignant_melanoma | Substitution - Missense |
c.131C>T; p.S44F; 5:156954684-156954684 |
skin | malignant_melanoma | Substitution - Missense |
c.209G>A; p.R70H; 5:156954606-156954606 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.209G>A; p.R70H; 5:156954606-156954606 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.209G>A; p.R70H; 5:156954606-156954606 |
pancreas | carcinoma | Substitution - Missense |
c.556A>C; p.T186P; 5:156951635-156951635 |
thyroid | other; neoplasm | Substitution - Missense |
c.165G>A; p.G55G; 5:156954650-156954650 |
skin | malignant_melanoma | Substitution - coding silent |
c.1024G>A; p.E342K; 5:156920492-156920492 |
skin; ear | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.12A>C; p.E4D; 5:156963187-156963187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.439C>T; p.R147C; 5:156951752-156951752 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.439C>T; p.R147C; 5:156951752-156951752 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.1092C>T; p.D364D; 5:156919502-156919502 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1091A>G; p.D364G; 5:156919503-156919503 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1092C>T; p.D364D; 5:156919502-156919502 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.550C>T; p.Q184*; 5:156951641-156951641 |
skin | malignant_melanoma | Substitution - Nonsense |
c.280G>T; p.D94Y; 5:156954535-156954535 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.962C>T; p.P321L; 5:156922149-156922149 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.943C>T; p.L315L; 5:156922168-156922168 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.280G>T; p.D94Y; 5:156954535-156954535 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1132C>T; p.L378F; 5:156919462-156919462 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.23T>A; p.L8H; 5:156963176-156963176 |
skin | malignant_melanoma | Substitution - Missense |
c.424G>A; p.A142T; 5:156951767-156951767 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.513C>G; p.V171V; 5:156951678-156951678 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.496G>C; p.A166P; 5:156951695-156951695 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - Missense |
c.957C>T; p.I319I; 5:156922154-156922154 |
skin | malignant_melanoma | Substitution - coding silent |
c.363C>A; p.N121K; 5:156954452-156954452 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.5C>G; p.S2C; 5:156963194-156963194 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.846A>G; p.A282A; 5:156926311-156926311 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.645C>T; p.P215P; 5:156951546-156951546 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.182A>T; p.Y61F; 5:156954633-156954633 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.217G>A; p.G73R; 5:156954598-156954598 |
skin | malignant_melanoma | Substitution - Missense |
c.865G>A; p.E289K; 5:156926292-156926292 |
oesophagus | carcinoma | Substitution - Missense |
c.646G>A; p.E216K; 5:156951545-156951545 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.228delG; p.T77fs*21; 5:156954587-156954587 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1062C>A; p.Y354*; 5:156919532-156919532 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1062C>A; p.Y354*; 5:156919532-156919532 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.795C>T; p.H265H; 5:156948465-156948465 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1056A>G; p.L352L; 5:156919538-156919538 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.845C>A; p.A282E; 5:156926312-156926312 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.769G>T; p.V257F; 5:156948491-156948491 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.280G>A; p.D94N; 5:156954535-156954535 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.123G>A; p.L41L; 5:156954692-156954692 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.801A>G; p.S267S; 5:156948459-156948459 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.801A>G; p.S267S; 5:156948459-156948459 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862C>T; p.P288S; 5:156926295-156926295 |
skin | malignant_melanoma | Substitution - Missense |
c.201G>A; p.A67A; 5:156954614-156954614 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.601A>G; p.T201A; 5:156951590-156951590 |
skin | malignant_melanoma | Substitution - Missense |
c.592C>T; p.L198F; 5:156951599-156951599 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1100A>T; p.H367L; 5:156919494-156919494 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.204C>T; p.L68L; 5:156954611-156954611 |
skin | malignant_melanoma | Substitution - coding silent |
c.974T>G; p.F325C; 5:156922137-156922137 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.490C>T; p.P164S; 5:156951701-156951701 |
skin | malignant_melanoma | Substitution - Missense |
c.1114G>A; p.E372K; 5:156919480-156919480 |
skin | malignant_melanoma | Substitution - Missense |
c.998C>T; p.A333V; 5:156922113-156922113 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.755C>A; p.S252Y; 5:156949656-156949656 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.629C>T; p.T210I; 5:156951562-156951562 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.959C>T; p.A320V; 5:156922152-156922152 |
skin | malignant_melanoma | Substitution - Missense |
c.947T>A; p.L316Q; 5:156922164-156922164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.331T>A; p.C111S; 5:156954484-156954484 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1013G>A; p.G338E; 5:156920503-156920503 |
skin | malignant_melanoma | Substitution - Missense |
c.472C>A; p.R158R; 5:156951719-156951719 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.612C>T; p.T204T; 5:156951579-156951579 |
skin | malignant_melanoma | Substitution - coding silent |
c.262G>A; p.G88R; 5:156954553-156954553 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.999G>A; p.A333A; 5:156922112-156922112 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1037C>T; p.S346L; 5:156920479-156920479 |
skin | malignant_melanoma | Substitution - Missense |
c.1037C>T; p.S346L; 5:156920479-156920479 |
skin; head_neck | malignant_melanoma; superficial_spreading | Substitution - Missense |
c.69T>G; p.T23T; 5:156954746-156954746 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.69T>G; p.T23T; 5:156954746-156954746 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.999G>A; p.A333A; 5:156922112-156922112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.999G>A; p.A333A; 5:156922112-156922112 |
lung | carcinoma; mixed_small_cell_carcinoma-adenocarcinoma | Substitution - coding silent |
c.69T>G; p.T23T; 5:156954746-156954746 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.343G>T; p.E115*; 5:156954472-156954472 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.945A>T; p.L315L; 5:156922166-156922166 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.185C>T; p.S62F; 5:156954630-156954630 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1079delA; p.N360fs*>19; 5:156919515-156919515 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.455_457delCAA; p.T152delT; 5:156951734-156951736 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - In frame |
c.1079delA; p.N360fs*>19; 5:156919515-156919515 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.100C>T; p.H34Y; 5:156954715-156954715 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.621G>T; p.E207D; 5:156951570-156951570 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1086C>A; p.L362L; 5:156919508-156919508 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.790T>C; p.S264P; 5:156948470-156948470 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1113C>T; p.D371D; 5:156919481-156919481 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.234A>T; p.S78S; 5:156954581-156954581 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.902G>A; p.G301E; 5:156922209-156922209 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733G>A; p.A245T; 5:156949678-156949678 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098G>A; p.Q366Q; 5:156919496-156919496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.383G>A; p.R128H; 5:156954432-156954432 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.179C>A; p.P60H; 5:156954636-156954636 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.648G>A; p.E216E; 5:156951543-156951543 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.350C>T; p.P117L; 5:156954465-156954465 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.694C>T; p.L232F; 5:156949717-156949717 |
skin | malignant_melanoma | Substitution - Missense |
c.466A>G; p.T156A; 5:156951725-156951725 |
liver | carcinoma | Substitution - Missense |
c.466A>G; p.T156A; 5:156951725-156951725 |
liver | carcinoma | Substitution - Missense |
c.1057G>C; p.D353H; 5:156919537-156919537 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.626C>A; p.A209D; 5:156951565-156951565 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.759_760insA; p.E254fs*20; 5:156949651-156949652 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.414G>A; p.T138T; 5:156951777-156951777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.848C>G; p.S283C; 5:156926309-156926309 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.163G>A; p.G55R; 5:156954652-156954652 |
skin | malignant_melanoma | Substitution - Missense |
c.277G>T; p.G93C; 5:156954538-156954538 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.502C>T; p.P168S; 5:156951689-156951689 |
skin | malignant_melanoma | Substitution - Missense |
c.502C>T; p.P168S; 5:156951689-156951689 |
skin | malignant_melanoma | Substitution - Missense |
c.200C>T; p.A67V; 5:156954615-156954615 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.200C>T; p.A67V; 5:156954615-156954615 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.468C>T; p.T156T; 5:156951723-156951723 |
skin | malignant_melanoma | Substitution - coding silent |
c.200C>T; p.A67V; 5:156954615-156954615 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.429C>T; p.T143T; 5:156951762-156951762 |
skin | malignant_melanoma | Substitution - coding silent |
c.928A>T; p.M310L; 5:156922183-156922183 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.295A>T; p.I99F; 5:156954520-156954520 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.807G>A; p.W269*; 5:156948453-156948453 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1108G>A; p.E370K; 5:156919486-156919486 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.850G>A; p.D284N; 5:156926307-156926307 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.765C>T; p.S255S; 5:156948495-156948495 |
skin | malignant_melanoma | Substitution - coding silent |
c.661G>C; p.G221R; 5:156951530-156951530 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1006C>T; p.L336L; 5:156922105-156922105 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.169G>A; p.D57N; 5:156954646-156954646 |
skin | malignant_melanoma | Substitution - Missense |
c.703G>A; p.D235N; 5:156949708-156949708 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.676G>T; p.A226S; 5:156951515-156951515 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.491C>T; p.P164L; 5:156951700-156951700 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1090G>C; p.D364H; 5:156919504-156919504 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400+5G>A; p.?; 5:156954410-156954410 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.103C>A; p.R35R; 5:156954712-156954712 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.1102G>A; p.G368R; 5:156919492-156919492 |
NS | malignant_melanoma | Substitution - Missense |
c.1102G>A; p.G368R; 5:156919492-156919492 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1102G>A; p.G368R; 5:156919492-156919492 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.679G>T; p.E227*; 5:156951512-156951512 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.161G>T; p.W54L; 5:156954654-156954654 |
skin | malignant_melanoma | Substitution - Missense |
c.233C>T; p.S78L; 5:156954582-156954582 |
skin | malignant_melanoma | Substitution - Missense |