| Gene ID | 1010 |
| Symbol | CDH12 |
| Synonymous | CDHB |
| Full name | cadherin 12, type 2 (N-cadherin 2) |
| Gene description | Br-cadherin|N-cadherin 2|brain cadherin|brain-cadherin|cadherin, neural type, 2|cadherin-12|neural type cadherin 2|neuronal cadherin 2 |
| Cytoband | 5p14.3 |
| Gene type | protein-coding |
| Synonymous | MIM:600562; HGNC:HGNC:1751; Ensembl:ENSG00000154162; HPRD:11081; Vega:OTTHUMG00000090591 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.299C>G; p.T100S; 5:21975318-21975318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.541C>T; p.Q181*; 5:21854776-21854776 |
skin | malignant_melanoma | Substitution - Nonsense |
c.202G>A; p.V68M; 5:22078475-22078475 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1509A>T; p.P503P; 5:21764984-21764984 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666G>T; p.L222F; 5:21842309-21842309 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1196T>A; p.V399E; 5:21802227-21802227 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1493G>T; p.C498F; 5:21765000-21765000 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2200G>A; p.D734N; 5:21751922-21751922 |
skin | malignant_melanoma | Substitution - Missense |
c.569C>A; p.P190Q; 5:21854748-21854748 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2155C>T; p.Q719*; 5:21751967-21751967 |
breast | carcinoma | Substitution - Nonsense |
c.499G>T; p.A167S; 5:21975118-21975118 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.483G>A; p.L161L; 5:21975134-21975134 |
skin | malignant_melanoma | Substitution - coding silent |
c.286G>C; p.D96H; 5:21975331-21975331 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.192G>A; p.L64L; 5:22078485-22078485 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.292G>A; p.A98T; 5:21975325-21975325 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.731G>T; p.G244V; 5:21842244-21842244 |
stomach | adenocarcinoma | Substitution - Missense |
c.1382C>A; p.A461E; 5:21783369-21783369 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1344C>A; p.D448E; 5:21783407-21783407 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.577G>A; p.G193R; 5:21854740-21854740 |
skin | malignant_melanoma | Substitution - Missense |
c.2141G>T; p.R714M; 5:21751981-21751981 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2047G>T; p.V683L; 5:21752075-21752075 |
breast | carcinoma | Substitution - Missense |
c.1963G>C; p.D655H; 5:21752159-21752159 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1968C>A; p.N656K; 5:21752154-21752154 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.554C>G; p.T185R; 5:21854763-21854763 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2175T>C; p.D725D; 5:21751947-21751947 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1762C>T; p.R588*; 5:21755714-21755714 |
breast | carcinoma | Substitution - Nonsense |
c.2175T>C; p.D725D; 5:21751947-21751947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.451C>A; p.Q151K; 5:21975166-21975166 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918C>A; p.Q640K; 5:21752204-21752204 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1312G>A; p.E438K; 5:21783439-21783439 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2259T>G; p.S753S; 5:21751863-21751863 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1069C>A; p.H357N; 5:21802354-21802354 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1155C>A; p.S385R; 5:21802268-21802268 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918C>A; p.Q640K; 5:21752204-21752204 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.261C>T; p.G87G; 5:21975356-21975356 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1371C>A; p.F457L; 5:21783380-21783380 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1371C>A; p.F457L; 5:21783380-21783380 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.789T>C; p.N263N; 5:21842186-21842186 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1645G>A; p.G549R; 5:21755831-21755831 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.637C>A; p.P213T; 5:21854680-21854680 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.103C>T; p.P35S; 5:22078574-22078574 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436T>C; p.V479A; 5:21765057-21765057 |
lung | carcinoid-endocrine_tumour; atypical | Substitution - Missense |
c.2028G>T; p.G676G; 5:21752094-21752094 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.57C>T; p.L19L; 5:22078620-22078620 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1904T>A; p.V635E; 5:21752218-21752218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2110A>G; p.R704G; 5:21752012-21752012 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.231+9G>A; p.?; 5:22078437-22078437 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Unknown |
c.2131A>C; p.T711P; 5:21751991-21751991 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2131A>C; p.T711P; 5:21751991-21751991 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307G>A; p.G436E; 5:21783444-21783444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1306G>A; p.G436R; 5:21783445-21783445 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1456C>T; p.P486S; 5:21765037-21765037 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1767C>A; p.V589V; 5:21755709-21755709 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2296G>T; p.D766Y; 5:21751826-21751826 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.743G>A; p.G248E; 5:21842232-21842232 |
thyroid | carcinoma | Substitution - Missense |
c.2319C>A; p.P773P; 5:21751803-21751803 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1413C>A; p.S471R; 5:21765080-21765080 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2082A>T; p.K694N; 5:21752040-21752040 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1213G>A; p.A405T; 5:21802210-21802210 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1023G>C; p.K341N; 5:21802400-21802400 |
breast | carcinoma | Substitution - Missense |
c.25C>A; p.L9M; 5:22078652-22078652 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>T; p.E231*; 5:21842284-21842284 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.224T>C; p.V75A; 5:22078453-22078453 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.643A>T; p.T215S; 5:21854674-21854674 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1559C>T; p.A520V; 5:21760632-21760632 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1061A>G; p.H354R; 5:21802362-21802362 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2283C>T; p.A761A; 5:21751839-21751839 |
pancreas | carcinoma | Substitution - coding silent |
c.2025C>G; p.I675M; 5:21752097-21752097 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.733C>T; p.Q245*; 5:21842242-21842242 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.103C>A; p.P35T; 5:22078574-22078574 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.382C>T; p.R128C; 5:21975235-21975235 |
stomach | adenocarcinoma | Substitution - Missense |
c.679A>C; p.R227R; 5:21842296-21842296 |
pancreas | carcinoma | Substitution - coding silent |
c.1001A>G; p.K334R; 5:21816946-21816946 |
thyroid | carcinoma | Substitution - Missense |
c.679A>C; p.R227R; 5:21842296-21842296 |
pancreas | carcinoma | Substitution - coding silent |
c.1910T>C; p.L637P; 5:21752212-21752212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122G>A; p.E708K; 5:21752000-21752000 |
skin | malignant_melanoma | Substitution - Missense |
c.152G>A; p.R51H; 5:22078525-22078525 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.540C>A; p.L180L; 5:21854777-21854777 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1911G>A; p.L637L; 5:21752211-21752211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2292C>A; p.D764E; 5:21751830-21751830 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1747A>T; p.N583Y; 5:21755729-21755729 |
skin | malignant_melanoma | Substitution - Missense |
c.1267G>T; p.D423Y; 5:21783484-21783484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.204G>C; p.V68V; 5:22078473-22078473 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1270T>A; p.W424R; 5:21783481-21783481 |
prostate | carcinoma | Substitution - Missense |
c.267G>A; p.V89V; 5:21975350-21975350 |
skin | malignant_melanoma | Substitution - coding silent |
c.23C>T; p.S8F; 5:22078654-22078654 |
skin | malignant_melanoma | Substitution - Missense |
c.1518A>G; p.I506M; 5:21760673-21760673 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.136C>T; p.R46W; 5:22078541-22078541 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.23C>T; p.S8F; 5:22078654-22078654 |
skin | malignant_melanoma | Substitution - Missense |
c.23C>T; p.S8F; 5:22078654-22078654 |
skin | malignant_melanoma | Substitution - Missense |
c.136C>T; p.R46W; 5:22078541-22078541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.37delG; p.V13fs*8; 5:22078640-22078640 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2224G>T; p.E742*; 5:21751898-21751898 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.127C>T; p.P43S; 5:22078550-22078550 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.438C>G; p.F146L; 5:21975179-21975179 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.477G>A; p.K159K; 5:21975140-21975140 |
ovary | other; neoplasm | Substitution - coding silent |
c.866G>A; p.G289E; 5:21817081-21817081 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.11G>A; p.R4K; 5:22078666-22078666 |
skin | malignant_melanoma | Substitution - Missense |
c.1735C>T; p.Q579*; 5:21755741-21755741 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1893T>G; p.V631V; 5:21752229-21752229 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.562G>A; p.D188N; 5:21854755-21854755 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.275C>A; p.T92N; 5:21975342-21975342 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2045A>C; p.K682T; 5:21752077-21752077 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1794C>T; p.I598I; 5:21755682-21755682 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1701C>T; p.L567L; 5:21755775-21755775 |
skin | malignant_melanoma | Substitution - coding silent |
c.487G>T; p.G163*; 5:21975130-21975130 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1382C>T; p.A461V; 5:21783369-21783369 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1382C>T; p.A461V; 5:21783369-21783369 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.585T>C; p.S195S; 5:21854732-21854732 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.525G>T; p.V175V; 5:21975092-21975092 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1823T>C; p.L608P; 5:21755653-21755653 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.893T>G; p.F298C; 5:21817054-21817054 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.301G>A; p.V101I; 5:21975316-21975316 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1823T>C; p.L608P; 5:21755653-21755653 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.982G>A; p.G328R; 5:21816965-21816965 |
skin | malignant_melanoma | Substitution - Missense |
c.249C>G; p.D83E; 5:21975368-21975368 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1389A>C; p.K463N; 5:21783362-21783362 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2065A>G; p.I689V; 5:21752057-21752057 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1575C>T; p.S525S; 5:21760616-21760616 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.43T>C; p.F15L; 5:22078634-22078634 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.540C>T; p.L180L; 5:21854777-21854777 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1721G>A; p.S574N; 5:21755755-21755755 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1721G>A; p.S574N; 5:21755755-21755755 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1354A>C; p.T452P; 5:21783397-21783397 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.802C>T; p.R268*; 5:21842173-21842173 |
skin | malignant_melanoma | Substitution - Nonsense |
c.802C>T; p.R268*; 5:21842173-21842173 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1514A>T; p.Q505L; 5:21764979-21764979 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2204C>T; p.S735L; 5:21751918-21751918 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1912C>T; p.R638*; 5:21752210-21752210 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1463A>G; p.E488G; 5:21765030-21765030 |
liver | carcinoma | Substitution - Missense |
c.2263G>T; p.D755Y; 5:21751859-21751859 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.302T>C; p.V101A; 5:21975315-21975315 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.565G>T; p.D189Y; 5:21854752-21854752 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1450G>T; p.E484*; 5:21765043-21765043 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.465T>A; p.D155E; 5:21975152-21975152 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1954G>A; p.D652N; 5:21752168-21752168 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1571T>A; p.F524Y; 5:21760620-21760620 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.763G>T; p.V255F; 5:21842212-21842212 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.394G>C; p.V132L; 5:21975223-21975223 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2030C>T; p.A677V; 5:21752092-21752092 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1271_1272GG>TT; p.W424>?; 5:21783479-21783480 |
lung | carcinoma; adenocarcinoma | Complex |
c.1224T>C; p.A408A; 5:21802199-21802199 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.964G>A; p.D322N; 5:21816983-21816983 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.682G>T; p.E228*; 5:21842293-21842293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2083C>T; p.P695S; 5:21752039-21752039 |
skin | malignant_melanoma | Substitution - Missense |
c.1257-7T>G; p.?; 5:21783501-21783501 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Unknown |
c.996G>C; p.L332F; 5:21816951-21816951 |
breast | carcinoma | Substitution - Missense |
c.2181T>C; p.D727D; 5:21751941-21751941 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.40C>A; p.L14M; 5:22078637-22078637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.526G>A; p.G176S; 5:21975091-21975091 |
breast | carcinoma | Substitution - Missense |
c.2321G>A; p.R774H; 5:21751801-21751801 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2064A>C; p.K688N; 5:21752058-21752058 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2074G>A; p.D692N; 5:21752048-21752048 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2148C>T; p.F716F; 5:21751974-21751974 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1567C>A; p.Q523K; 5:21760624-21760624 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.401T>C; p.I134T; 5:21975216-21975216 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.356G>A; p.R119K; 5:21975261-21975261 |
skin | malignant_melanoma | Substitution - Missense |
c.916T>C; p.Y306H; 5:21817031-21817031 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.647-2A>T; p.?; 5:21842330-21842330 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.325G>A; p.G109R; 5:21975292-21975292 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.812A>T; p.K271I; 5:21842163-21842163 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.166T>C; p.W56R; 5:22078511-22078511 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1495G>A; p.E499K; 5:21764998-21764998 |
skin | malignant_melanoma | Substitution - Missense |
c.790G>T; p.D264Y; 5:21842185-21842185 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.254G>A; p.G85E; 5:21975363-21975363 |
skin | malignant_melanoma | Substitution - Missense |
c.693A>G; p.E231E; 5:21842282-21842282 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2079A>C; p.I693I; 5:21752043-21752043 |
ovary | other; neoplasm | Substitution - coding silent |
c.427G>T; p.E143*; 5:21975190-21975190 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.803G>A; p.R268Q; 5:21842172-21842172 |
skin | malignant_melanoma | Substitution - Missense |
c.2176G>T; p.V726L; 5:21751946-21751946 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.940G>C; p.G314R; 5:21817007-21817007 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.40C>T; p.L14L; 5:22078637-22078637 |
skin | malignant_melanoma | Substitution - coding silent |
c.815-3C>T; p.?; 5:21817135-21817135 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.1604A>C; p.K535T; 5:21760587-21760587 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.749C>G; p.A250G; 5:21842226-21842226 |
liver | carcinoma | Substitution - Missense |
c.749C>G; p.A250G; 5:21842226-21842226 |
liver | carcinoma | Substitution - Missense |
c.2314G>A; p.G772R; 5:21751808-21751808 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1910T>A; p.L637Q; 5:21752212-21752212 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1307G>T; p.G436V; 5:21783444-21783444 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.159A>C; p.K53N; 5:22078518-22078518 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.42G>T; p.L14L; 5:22078635-22078635 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2311T>C; p.W771R; 5:21751811-21751811 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.857C>T; p.S286L; 5:21817090-21817090 |
pancreas | carcinoid-endocrine_tumour | Substitution - Missense |
c.1216G>C; p.V406L; 5:21802207-21802207 |
pancreas | carcinoma | Substitution - Missense |
c.1602C>T; p.I534I; 5:21760589-21760589 |
skin | malignant_melanoma | Substitution - coding silent |
c.613G>A; p.G205R; 5:21854704-21854704 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.396_397GG>TT; p.V132>?; 5:21975220-21975221 |
lung | carcinoma; small_cell_carcinoma | Complex |
c.1132G>A; p.V378I; 5:21802291-21802291 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.613G>A; p.G205R; 5:21854704-21854704 |
skin | malignant_melanoma | Substitution - Missense |
c.59T>C; p.L20P; 5:22078618-22078618 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1675C>T; p.R559C; 5:21755801-21755801 |
liver | carcinoma | Substitution - Missense |
c.1282G>A; p.G428R; 5:21783469-21783469 |
skin | malignant_melanoma | Substitution - Missense |
c.1675C>T; p.R559C; 5:21755801-21755801 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1810G>T; p.E604*; 5:21755666-21755666 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1763G>C; p.R588P; 5:21755713-21755713 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1023G>T; p.K341N; 5:21802400-21802400 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2068C>T; p.R690C; 5:21752054-21752054 |
skin | malignant_melanoma | Substitution - Missense |
c.1658G>A; p.R553Q; 5:21755818-21755818 |
skin | malignant_melanoma | Substitution - Missense |
c.568C>A; p.P190T; 5:21854749-21854749 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.230A>C; p.K77T; 5:22078447-22078447 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2286C>A; p.D762E; 5:21751836-21751836 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2005G>C; p.D669H; 5:21752117-21752117 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.568C>A; p.P190T; 5:21854749-21854749 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.368C>T; p.P123L; 5:21975249-21975249 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1549C>A; p.L517I; 5:21760642-21760642 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.178C>G; p.Q60E; 5:22078499-22078499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.368C>T; p.P123L; 5:21975249-21975249 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2199C>T; p.Y733Y; 5:21751923-21751923 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1489G>A; p.V497M; 5:21765004-21765004 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.87G>T; p.Q29H; 5:22078590-22078590 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.301G>T; p.V101F; 5:21975316-21975316 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.138G>T; p.R46R; 5:22078539-22078539 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1971C>T; p.V657V; 5:21752151-21752151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.974C>T; p.T325I; 5:21816973-21816973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1954G>T; p.D652Y; 5:21752168-21752168 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1757C>T; p.T586I; 5:21755719-21755719 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>G; p.S94*; 5:21975336-21975336 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.721G>A; p.D241N; 5:21842254-21842254 |
skin | malignant_melanoma | Substitution - Missense |
c.802C>A; p.R268R; 5:21842173-21842173 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1159C>G; p.P387A; 5:21802264-21802264 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.497T>C; p.V166A; 5:21975120-21975120 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231G>A; p.S744N; 5:21751891-21751891 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1041A>C; p.K347N; 5:21802382-21802382 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1604A>T; p.K535I; 5:21760587-21760587 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.64C>G; p.P22A; 5:22078613-22078613 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.64C>G; p.P22A; 5:22078613-22078613 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.941G>A; p.G314E; 5:21817006-21817006 |
breast | carcinoma | Substitution - Missense |
c.438C>T; p.F146F; 5:21975179-21975179 |
skin | malignant_melanoma | Substitution - coding silent |
c.195A>G; p.E65E; 5:22078482-22078482 |
skin | malignant_melanoma | Substitution - coding silent |
c.465T>C; p.D155D; 5:21975152-21975152 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1676G>A; p.R559H; 5:21755800-21755800 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621T>A; p.P207P; 5:21854696-21854696 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.465T>C; p.D155D; 5:21975152-21975152 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1676G>A; p.R559H; 5:21755800-21755800 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.621T>A; p.P207P; 5:21854696-21854696 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.1122C>A; p.S374R; 5:21802301-21802301 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.907G>T; p.E303*; 5:21817040-21817040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1447A>C; p.N483H; 5:21765046-21765046 |
breast | carcinoma | Substitution - Missense |
c.2015C>T; p.A672V; 5:21752107-21752107 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.458T>A; p.I153N; 5:21975159-21975159 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.907G>T; p.E303*; 5:21817040-21817040 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.814+1G>A; p.?; 5:21842160-21842160 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1786G>A; p.G596S; 5:21755690-21755690 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.375C>A; p.Y125*; 5:21975242-21975242 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1624_1625GA>TT; p.D542>?; 5:21760566-21760567 |
lung | carcinoma; adenocarcinoma | Complex |
c.1390G>A; p.V464I; 5:21783361-21783361 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1390G>A; p.V464I; 5:21783361-21783361 |
NS | malignant_melanoma | Substitution - Missense |
c.1000A>G; p.K334E; 5:21816947-21816947 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.291C>T; p.G97G; 5:21975326-21975326 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.869G>T; p.R290I; 5:21817078-21817078 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.667C>A; p.P223T; 5:21842308-21842308 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.520C>G; p.P174A; 5:21975097-21975097 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1203C>A; p.T401T; 5:21802220-21802220 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.130G>C; p.G44R; 5:22078547-22078547 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2349C>T; p.G783G; 5:21751773-21751773 |
pancreas | carcinoma | Substitution - coding silent |
c.1963G>A; p.D655N; 5:21752159-21752159 |
skin | malignant_melanoma | Substitution - Missense |
c.2349C>T; p.G783G; 5:21751773-21751773 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1085C>T; p.A362V; 5:21802338-21802338 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2352A>C; p.E784D; 5:21751770-21751770 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2352A>C; p.E784D; 5:21751770-21751770 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.680G>A; p.R227K; 5:21842295-21842295 |
breast | carcinoma | Substitution - Missense |
c.2313G>T; p.W771C; 5:21751809-21751809 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1815A>G; p.A605A; 5:21755661-21755661 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.284G>T; p.G95V; 5:21975333-21975333 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1152C>T; p.F384F; 5:21802271-21802271 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2020G>A; p.D674N; 5:21752102-21752102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2020G>A; p.D674N; 5:21752102-21752102 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1705G>A; p.V569I; 5:21755771-21755771 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2020G>A; p.D674N; 5:21752102-21752102 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.616C>A; p.Q206K; 5:21854701-21854701 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1766T>C; p.V589A; 5:21755710-21755710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2173G>A; p.D725N; 5:21751949-21751949 |
skin | malignant_melanoma | Substitution - Missense |
c.473C>T; p.P158L; 5:21975144-21975144 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1879C>T; p.L627F; 5:21755597-21755597 |
skin | malignant_melanoma | Substitution - Missense |
c.1505A>C; p.K502T; 5:21764988-21764988 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.180_181insC; p.F61fs*45; 5:22078496-22078497 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1879C>T; p.L627F; 5:21755597-21755597 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1274A>T; p.K425M; 5:21783477-21783477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1396A>G; p.N466D; 5:21765097-21765097 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1233G>A; p.L411L; 5:21802190-21802190 |
pancreas | carcinoma | Substitution - coding silent |
c.272delA; p.Y91fs*24; 5:21975345-21975345 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.49G>T; p.G17*; 5:22078628-22078628 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1984G>T; p.D662Y; 5:21752138-21752138 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1131C>T; p.D377D; 5:21802292-21802292 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2353G>T; p.E785*; 5:21751769-21751769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2280A>C; p.E760D; 5:21751842-21751842 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1917G>T; p.R639S; 5:21752205-21752205 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.703G>T; p.V235L; 5:21842272-21842272 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1091C>T; p.P364L; 5:21802332-21802332 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239G>A; p.V747M; 5:21751883-21751883 |
breast | carcinoma | Substitution - Missense |
c.1835T>C; p.L612P; 5:21755641-21755641 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1496A>G; p.E499G; 5:21764997-21764997 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1980C>T; p.Y660Y; 5:21752142-21752142 |
prostate | carcinoma | Substitution - coding silent |
c.299C>T; p.T100I; 5:21975318-21975318 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.516G>T; p.M172I; 5:21975101-21975101 |
breast | carcinoma | Substitution - Missense |
c.186_187insT; p.V63fs*43; 5:22078490-22078491 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1832G>A; p.G611E; 5:21755644-21755644 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.372C>A; p.F124L; 5:21975245-21975245 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.321C>A; p.T107T; 5:21975296-21975296 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1832G>A; p.G611E; 5:21755644-21755644 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.569_570insC; p.T191fs*22; 5:21854747-21854748 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1988A>G; p.E663G; 5:21752134-21752134 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1161G>A; p.P387P; 5:21802262-21802262 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1832G>A; p.G611E; 5:21755644-21755644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1161G>A; p.P387P; 5:21802262-21802262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1161G>A; p.P387P; 5:21802262-21802262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1359G>A; p.A453A; 5:21783392-21783392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1359G>A; p.A453A; 5:21783392-21783392 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1861C>A; p.L621I; 5:21755615-21755615 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1359G>A; p.A453A; 5:21783392-21783392 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1258T>C; p.Y420H; 5:21783493-21783493 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2069G>A; p.R690H; 5:21752053-21752053 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.12G>A; p.R4R; 5:22078665-22078665 |
ovary | other; neoplasm | Substitution - coding silent |
c.2069G>A; p.R690H; 5:21752053-21752053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.163G>T; p.G55C; 5:22078514-22078514 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1973T>C; p.I658T; 5:21752149-21752149 |
pancreas | carcinoma | Substitution - Missense |
c.219G>T; p.Q73H; 5:22078458-22078458 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2224G>A; p.E742K; 5:21751898-21751898 |
skin | malignant_melanoma | Substitution - Missense |
c.1222G>T; p.A408S; 5:21802201-21802201 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1379T>C; p.I460T; 5:21783372-21783372 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2224G>A; p.E742K; 5:21751898-21751898 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1400C>T; p.P467L; 5:21765093-21765093 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1057C>T; p.L353F; 5:21802366-21802366 |
skin | malignant_melanoma | Substitution - Missense |
c.2224G>A; p.E742K; 5:21751898-21751898 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.2224G>A; p.E742K; 5:21751898-21751898 |
skin | malignant_melanoma | Substitution - Missense |
c.586G>C; p.A196P; 5:21854731-21854731 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.64C>A; p.P22T; 5:22078613-22078613 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.595G>A; p.V199I; 5:21854722-21854722 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1320C>T; p.T440T; 5:21783431-21783431 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.646G>A; p.G216S; 5:21854671-21854671 |
skin | malignant_melanoma | Substitution - Missense |
c.646G>A; p.G216S; 5:21854671-21854671 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1844G>T; p.G615V; 5:21755632-21755632 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.1544G>A; p.R515Q; 5:21760647-21760647 |
skin | malignant_melanoma | Substitution - Missense |
c.2226A>T; p.E742D; 5:21751896-21751896 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1544G>A; p.R515Q; 5:21760647-21760647 |
skin | malignant_melanoma | Substitution - Missense |
c.1569A>G; p.Q523Q; 5:21760622-21760622 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1544G>A; p.R515Q; 5:21760647-21760647 |
skin | malignant_melanoma | Substitution - Missense |
c.2230A>T; p.S744C; 5:21751892-21751892 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1902T>C; p.Y634Y; 5:21752220-21752220 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1170C>G; p.T390T; 5:21802253-21802253 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1192C>T; p.P398S; 5:21802231-21802231 |
skin | malignant_melanoma | Substitution - Missense |
c.143A>C; p.H48P; 5:22078534-22078534 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1190C>G; p.T397S; 5:21802233-21802233 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1393A>T; p.S465C; 5:21783358-21783358 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1572C>A; p.F524L; 5:21760619-21760619 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.374A>T; p.Y125F; 5:21975243-21975243 |
pancreas | carcinoma | Substitution - Missense |
c.89C>G; p.T30S; 5:22078588-22078588 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2242G>A; p.A748T; 5:21751880-21751880 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.109G>A; p.E37K; 5:22078568-22078568 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.409A>G; p.R137G; 5:21975208-21975208 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.955A>C; p.I319L; 5:21816992-21816992 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1358C>T; p.A453V; 5:21783393-21783393 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.53G>A; p.G18D; 5:22078624-22078624 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1913G>A; p.R638Q; 5:21752209-21752209 |
pancreas | carcinoma | Substitution - Missense |
c.1607C>A; p.P536Q; 5:21760584-21760584 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1358C>T; p.A453V; 5:21783393-21783393 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1913G>A; p.R638Q; 5:21752209-21752209 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1169C>A; p.T390N; 5:21802254-21802254 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1530C>A; p.V510V; 5:21760661-21760661 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.751G>A; p.G251R; 5:21842224-21842224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.751G>A; p.G251R; 5:21842224-21842224 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.832G>T; p.V278F; 5:21817115-21817115 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2136C>T; p.D712D; 5:21751986-21751986 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1516A>G; p.I506V; 5:21760675-21760675 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1180T>G; p.Y394D; 5:21802243-21802243 |
pancreas | carcinoma | Substitution - Missense |
c.2238C>T; p.S746S; 5:21751884-21751884 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2238C>T; p.S746S; 5:21751884-21751884 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2152C>A; p.H718N; 5:21751970-21751970 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1285G>A; p.D429N; 5:21783466-21783466 |
skin | malignant_melanoma | Substitution - Missense |
c.1285G>A; p.D429N; 5:21783466-21783466 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.222T>A; p.Y74*; 5:22078455-22078455 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1440A>C; p.L480F; 5:21765053-21765053 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.2341A>T; p.M781L; 5:21751781-21751781 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2014G>C; p.A672P; 5:21752108-21752108 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1435G>A; p.V479I; 5:21765058-21765058 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.326G>T; p.G109V; 5:21975291-21975291 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.390G>T; p.Q130H; 5:21975227-21975227 |
ovary | other; neoplasm | Substitution - Missense |
c.1759delA; p.I587fs*24; 5:21755717-21755717 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.810C>G; p.P270P; 5:21842165-21842165 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1963G>T; p.D655Y; 5:21752159-21752159 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2358G>A; p.E786E; 5:21751764-21751764 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.569C>T; p.P190L; 5:21854748-21854748 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.441C>A; p.I147I; 5:21975176-21975176 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.269A>G; p.K90R; 5:21975348-21975348 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.259G>T; p.G87C; 5:21975358-21975358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.603C>T; p.S201S; 5:21854714-21854714 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.957C>T; p.I319I; 5:21816990-21816990 |
breast | carcinoma | Substitution - coding silent |
c.160C>T; p.R54C; 5:22078517-22078517 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1212C>T; p.G404G; 5:21802211-21802211 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.256G>A; p.E86K; 5:21975361-21975361 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.70C>A; p.Q24K; 5:22078607-22078607 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.17G>C; p.C6S; 5:22078660-22078660 |
thyroid | carcinoma | Substitution - Missense |
c.2019C>T; p.F673F; 5:21752103-21752103 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.256G>A; p.E86K; 5:21975361-21975361 |
breast | carcinoma | Substitution - Missense |
c.109G>T; p.E37*; 5:22078568-22078568 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.109G>T; p.E37*; 5:22078568-22078568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.663T>C; p.A221A; 5:21842312-21842312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1541A>G; p.D514G; 5:21760650-21760650 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1324G>A; p.A442T; 5:21783427-21783427 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1835T>G; p.L612R; 5:21755641-21755641 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.648T>C; p.G216G; 5:21842327-21842327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1906G>A; p.A636T; 5:21752216-21752216 |
liver | carcinoma | Substitution - Missense |
c.1906G>A; p.A636T; 5:21752216-21752216 |
liver | carcinoma | Substitution - Missense |
c.2088C>A; p.D696E; 5:21752034-21752034 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1199G>A; p.G400E; 5:21802224-21802224 |
skin | malignant_melanoma | Substitution - Missense |
c.687C>T; p.V229V; 5:21842288-21842288 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1978T>A; p.Y660N; 5:21752144-21752144 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2335G>A; p.A779T; 5:21751787-21751787 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1199G>A; p.G400E; 5:21802224-21802224 |
skin | malignant_melanoma | Substitution - Missense |
c.201C>T; p.Y67Y; 5:22078476-22078476 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.2335G>A; p.A779T; 5:21751787-21751787 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2335G>A; p.A779T; 5:21751787-21751787 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.343A>C; p.R115R; 5:21975274-21975274 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1109C>T; p.T370M; 5:21802314-21802314 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.942A>G; p.G314G; 5:21817005-21817005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1769G>T; p.C590F; 5:21755707-21755707 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1644G>A; p.A548A; 5:21755832-21755832 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |