| Gene ID | 933 |
| Symbol | CD22 |
| Synonymous | SIGLEC-2|SIGLEC2 |
| Full name | CD22 molecule |
| Gene description | B-cell receptor CD22|B-lymphocyte cell adhesion molecule|BL-CAM|CD22 antigen|T-cell surface antigen Leu-14|sialic acid binding Ig-like lectin 2|sialic acid-binding Ig-like lectin 2 |
| Cytoband | 19q13.1 |
| Gene type | protein-coding |
| Synonymous | MIM:107266; HGNC:HGNC:1643; Ensembl:ENSG00000012124; HPRD:00114; Vega:OTTHUMG00000183298 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1439C>T; p.T480I; 19:35341070-35341070 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.100G>T; p.A34S; 19:35332612-35332612 |
pancreas | carcinoma | Substitution - Missense |
c.443C>T; p.P148L; 19:35336066-35336066 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.662T>C; p.L221P; 19:35336285-35336285 |
ovary | other; neoplasm | Substitution - Missense |
c.2059C>T; p.R687*; 19:35344852-35344852 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.2443C>T; p.P815S; 19:35346596-35346596 |
skin | malignant_melanoma | Substitution - Missense |
c.60C>A; p.D20E; 19:35332572-35332572 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.184C>T; p.P62S; 19:35332696-35332696 |
skin | malignant_melanoma | Substitution - Missense |
c.995A>C; p.E332A; 19:35338177-35338177 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1684T>A; p.S562T; 19:35341519-35341519 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1684T>A; p.S562T; 19:35341519-35341519 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1105A>C; p.N369H; 19:35338287-35338287 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1809G>A; p.G603G; 19:35341739-35341739 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.1809G>A; p.G603G; 19:35341739-35341739 |
liver | carcinoma | Substitution - coding silent |
c.252G>A; p.K84K; 19:35332764-35332764 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1467T>G; p.S489R; 19:35341098-35341098 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.217G>A; p.G73R; 19:35332729-35332729 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.607G>A; p.E203K; 19:35336230-35336230 |
skin | malignant_melanoma | Substitution - Missense |
c.1114G>T; p.E372*; 19:35338296-35338296 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2404C>T; p.R802C; 19:35346227-35346227 |
pancreas | carcinoma | Substitution - Missense |
c.852C>A; p.T284T; 19:35337888-35337888 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2404C>T; p.R802C; 19:35346227-35346227 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1858G>A; p.A620T; 19:35341788-35341788 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1409T>C; p.L470P; 19:35341040-35341040 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2304C>A; p.P768P; 19:35345697-35345697 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1650G>T; p.L550L; 19:35341485-35341485 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1014C>T; p.I338I; 19:35338196-35338196 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.959C>T; p.S320L; 19:35337995-35337995 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1453G>A; p.A485T; 19:35341084-35341084 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.412G>A; p.E138K; 19:35332924-35332924 |
skin | malignant_melanoma | Substitution - Missense |
c.1453G>A; p.A485T; 19:35341084-35341084 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2184G>T; p.Q728H; 19:35345102-35345102 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2354G>T; p.R785I; 19:35346177-35346177 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2373T>C; p.D791D; 19:35346196-35346196 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.34+4A>T; p.?; 19:35332078-35332078 |
liver | carcinoma | Unknown |
c.1572G>T; p.S524S; 19:35341407-35341407 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.960G>A; p.S320S; 19:35337996-35337996 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.399C>T; p.H133H; 19:35332911-35332911 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.960G>A; p.S320S; 19:35337996-35337996 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.650T>C; p.V217A; 19:35336273-35336273 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.497C>T; p.S166F; 19:35336120-35336120 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.168C>T; p.F56F; 19:35332680-35332680 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2275G>A; p.G759S; 19:35345668-35345668 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287C>T; p.P429P; 19:35340918-35340918 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.94C>A; p.L32I; 19:35332606-35332606 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1762G>A; p.E588K; 19:35341597-35341597 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1256C>A; p.P419H; 19:35340887-35340887 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.645G>A; p.K215K; 19:35336268-35336268 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.392G>C; p.R131P; 19:35332904-35332904 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2512G>T; p.E838*; 19:35346665-35346665 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.992C>T; p.P331L; 19:35338174-35338174 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Missense |
c.1859C>T; p.A620V; 19:35341789-35341789 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.526T>G; p.W176G; 19:35336149-35336149 |
skin | malignant_melanoma | Substitution - Missense |
c.891C>T; p.R297R; 19:35337927-35337927 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1054C>T; p.L352F; 19:35338236-35338236 |
skin | malignant_melanoma | Substitution - Missense |
c.1129A>T; p.T377S; 19:35338311-35338311 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2412+6G>A; p.?; 19:35346241-35346241 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2380G>T; p.V794F; 19:35346203-35346203 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2529G>T; p.V843V; 19:35346682-35346682 |
liver | carcinoma | Substitution - coding silent |
c.2169G>T; p.E723D; 19:35345087-35345087 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.318C>T; p.I106I; 19:35332830-35332830 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1422C>T; p.N474N; 19:35341053-35341053 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1961C>T; p.S654L; 19:35341891-35341891 |
skin | malignant_melanoma | Substitution - Missense |
c.1422C>T; p.N474N; 19:35341053-35341053 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1961C>T; p.S654L; 19:35341891-35341891 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1774G>A; p.A592T; 19:35341704-35341704 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>T; p.E538*; 19:35341447-35341447 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.324G>T; p.P108P; 19:35332836-35332836 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1945G>A; p.V649M; 19:35341875-35341875 |
skin | malignant_melanoma | Substitution - Missense |
c.2108T>A; p.I703N; 19:35344901-35344901 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1054C>A; p.L352I; 19:35338236-35338236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.951G>A; p.P317P; 19:35337987-35337987 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2405G>A; p.R802H; 19:35346228-35346228 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2425A>C; p.N809H; 19:35346578-35346578 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1511delC; p.R506fs*3; 19:35341346-35341346 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.123G>A; p.W41*; 19:35332635-35332635 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Nonsense |
c.123G>A; p.W41*; 19:35332635-35332635 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1392G>A; p.E464E; 19:35341023-35341023 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1551C>T; p.S517S; 19:35341386-35341386 |
kidney | other; neoplasm | Substitution - coding silent |
c.824C>T; p.T275M; 19:35337860-35337860 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.E266K; 19:35337832-35337832 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1495C>T; p.L499L; 19:35341126-35341126 |
skin | malignant_melanoma | Substitution - coding silent |
c.432T>A; p.H144Q; 19:35336055-35336055 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.950C>T; p.P317L; 19:35337986-35337986 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1164C>G; p.P388P; 19:35338346-35338346 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2390C>T; p.S797L; 19:35346213-35346213 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1131A>G; p.T377T; 19:35338313-35338313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.950C>T; p.P317L; 19:35337986-35337986 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.930G>T; p.Q310H; 19:35337966-35337966 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.918G>T; p.K306N; 19:35337954-35337954 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.162A>T; p.E54D; 19:35332674-35332674 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.162A>T; p.E54D; 19:35332674-35332674 |
liver | carcinoma | Substitution - Missense |
c.1715G>C; p.W572S; 19:35341550-35341550 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.718C>T; p.H240Y; 19:35336341-35336341 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.119T>C; p.V40A; 19:35332631-35332631 |
skin | malignant_melanoma | Substitution - Missense |
c.1519G>T; p.D507Y; 19:35341354-35341354 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2199G>A; p.R733R; 19:35345117-35345117 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2427C>T; p.N809N; 19:35346580-35346580 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2028C>T; p.T676T; 19:35341958-35341958 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.198G>A; p.K66K; 19:35332710-35332710 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1243G>A; p.V415I; 19:35338425-35338425 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2384C>G; p.T795S; 19:35346207-35346207 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1449C>A; p.A483A; 19:35341080-35341080 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.994G>A; p.E332K; 19:35338176-35338176 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1790G>A; p.R597H; 19:35341720-35341720 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.96C>T; p.L32L; 19:35332608-35332608 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2220C>A; p.A740A; 19:35345613-35345613 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2407C>T; p.Q803*; 19:35346230-35346230 |
NS | malignant_melanoma | Substitution - Nonsense |
c.2407C>T; p.Q803*; 19:35346230-35346230 |
NS | malignant_melanoma | Substitution - Nonsense |
c.570G>A; p.S190S; 19:35336193-35336193 |
skin | malignant_melanoma | Substitution - coding silent |
c.570G>A; p.S190S; 19:35336193-35336193 |
skin | malignant_melanoma | Substitution - coding silent |
c.570G>A; p.S190S; 19:35336193-35336193 |
skin | malignant_melanoma | Substitution - coding silent |
c.2004C>T; p.G668G; 19:35341934-35341934 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2150G>A; p.S717N; 19:35345068-35345068 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276G>A; p.G759D; 19:35345669-35345669 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.359G>T; p.R120M; 19:35332871-35332871 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.2365G>T; p.D789Y; 19:35346188-35346188 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2012C>T; p.P671L; 19:35341942-35341942 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.817G>A; p.E273K; 19:35337853-35337853 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2375A>G; p.D792G; 19:35346198-35346198 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.538G>A; p.G180R; 19:35336161-35336161 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1005G>A; p.T335T; 19:35338187-35338187 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2104G>T; p.A702S; 19:35344897-35344897 |
breast | carcinoma | Substitution - Missense |
c.2129G>A; p.R710Q; 19:35344922-35344922 |
skin | malignant_melanoma | Substitution - Missense |
c.1552G>A; p.E518K; 19:35341387-35341387 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2104G>T; p.A702S; 19:35344897-35344897 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2129G>A; p.R710Q; 19:35344922-35344922 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2169G>A; p.E723E; 19:35345087-35345087 |
skin | malignant_melanoma | Substitution - coding silent |
c.585C>A; p.I195I; 19:35336208-35336208 |
skin | malignant_melanoma | Substitution - coding silent |
c.1796C>A; p.S599Y; 19:35341726-35341726 |
thyroid | other; neoplasm | Substitution - Missense |
c.920A>G; p.Y307C; 19:35337956-35337956 |
liver | carcinoma | Substitution - Missense |
c.206C>G; p.S69W; 19:35332718-35332718 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2006G>A; p.R669H; 19:35341936-35341936 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.286G>A; p.G96R; 19:35332798-35332798 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2188T>C; p.F730L; 19:35345106-35345106 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.920A>G; p.Y307C; 19:35337956-35337956 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.884A>C; p.N295T; 19:35337920-35337920 |
thyroid | other; neoplasm | Substitution - Missense |
c.879G>A; p.T293T; 19:35337915-35337915 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.879G>A; p.T293T; 19:35337915-35337915 |
breast | carcinoma | Substitution - coding silent |
c.1830G>A; p.K610K; 19:35341760-35341760 |
skin | malignant_melanoma | Substitution - coding silent |
c.2345A>C; p.E782A; 19:35346168-35346168 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2491G>A; p.G831R; 19:35346644-35346644 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2424G>T; p.E808D; 19:35346577-35346577 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.471C>T; p.V157V; 19:35336094-35336094 |
breast | carcinoma | Substitution - coding silent |
c.199A>G; p.N67D; 19:35332711-35332711 |
prostate | carcinoma | Substitution - Missense |
c.932T>C; p.V311A; 19:35337968-35337968 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.680A>T; p.K227M; 19:35336303-35336303 |
skin | malignant_melanoma | Substitution - Missense |
c.1423G>A; p.V475I; 19:35341054-35341054 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.1548T>A; p.L516L; 19:35341383-35341383 |
skin | malignant_melanoma | Substitution - coding silent |
c.1423G>A; p.V475I; 19:35341054-35341054 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; chronic_myeloid_leukaemia | Substitution - Missense |
c.2060G>A; p.R687Q; 19:35344853-35344853 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.342T>G; p.S114R; 19:35332854-35332854 |
breast | carcinoma | Substitution - Missense |
c.1124G>A; p.G375E; 19:35338306-35338306 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1213G>A; p.G405R; 19:35338395-35338395 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1447G>T; p.A483S; 19:35341078-35341078 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1285C>T; p.P429S; 19:35340916-35340916 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.120C>T; p.V40V; 19:35332632-35332632 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2029G>A; p.V677I; 19:35341959-35341959 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2244C>T; p.S748S; 19:35345637-35345637 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2244C>T; p.S748S; 19:35345637-35345637 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.2498G>A; p.R833Q; 19:35346651-35346651 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2498G>A; p.R833Q; 19:35346651-35346651 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1380C>T; p.G460G; 19:35341011-35341011 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.228C>T; p.L76L; 19:35332740-35332740 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1037G>A; p.G346E; 19:35338219-35338219 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2302C>T; p.P768S; 19:35345695-35345695 |
skin | malignant_melanoma | Substitution - Missense |
c.420T>G; p.P140P; 19:35336043-35336043 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.88G>A; p.E30K; 19:35332600-35332600 |
skin | malignant_melanoma | Substitution - Missense |
c.272G>A; p.R91K; 19:35332784-35332784 |
skin | malignant_melanoma | Substitution - Missense |
c.921C>A; p.Y307*; 19:35337957-35337957 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1571C>T; p.S524L; 19:35341406-35341406 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.244G>A; p.D82N; 19:35332756-35332756 |
skin | malignant_melanoma | Substitution - Missense |
c.256C>T; p.P86S; 19:35332768-35332768 |
skin | malignant_melanoma | Substitution - Missense |
c.256C>T; p.P86S; 19:35332768-35332768 |
skin | malignant_melanoma | Substitution - Missense |
c.1467T>C; p.S489S; 19:35341098-35341098 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.320A>G; p.H107R; 19:35332832-35332832 |
ovary | other; neoplasm | Substitution - Missense |
c.229T>C; p.Y77H; 19:35332741-35332741 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2341T>G; p.S781A; 19:35346164-35346164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1532G>A; p.R511Q; 19:35341367-35341367 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2136G>A; p.W712*; 19:35345054-35345054 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2136G>A; p.W712*; 19:35345054-35345054 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2136G>A; p.W712*; 19:35345054-35345054 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2449G>T; p.D817Y; 19:35346602-35346602 |
breast | carcinoma | Substitution - Missense |
c.2521G>A; p.D841N; 19:35346674-35346674 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.12C>A; p.L4L; 19:35332052-35332052 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.724C>A; p.P242T; 19:35337760-35337760 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1345C>T; p.P449S; 19:35340976-35340976 |
skin | malignant_melanoma | Substitution - Missense |
c.2032T>C; p.Y678H; 19:35341962-35341962 |
skin | malignant_melanoma | Substitution - Missense |
c.1560C>T; p.H520H; 19:35341395-35341395 |
skin | malignant_melanoma | Substitution - coding silent |
c.2378C>T; p.T793M; 19:35346201-35346201 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2286C>T; p.Y762Y; 19:35345679-35345679 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.813C>T; p.N271N; 19:35337849-35337849 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.813C>T; p.N271N; 19:35337849-35337849 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.616T>C; p.F206L; 19:35336239-35336239 |
skin | malignant_melanoma | Substitution - Missense |
c.486G>A; p.L162L; 19:35336109-35336109 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2313C>G; p.N771K; 19:35345706-35345706 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.513G>A; p.P171P; 19:35336136-35336136 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.806G>T; p.S269I; 19:35337842-35337842 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.154G>C; p.D52H; 19:35332666-35332666 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.760A>G; p.I254V; 19:35337796-35337796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1297C>T; p.R433*; 19:35340928-35340928 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1059C>T; p.C353C; 19:35338241-35338241 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - coding silent |
c.1862A>G; p.N621S; 19:35341792-35341792 |
skin | malignant_melanoma | Substitution - Missense |
c.1155G>A; p.K385K; 19:35338337-35338337 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1381G>A; p.A461T; 19:35341012-35341012 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1531C>T; p.R511W; 19:35341366-35341366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1531C>T; p.R511W; 19:35341366-35341366 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1857C>A; p.D619E; 19:35341787-35341787 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1857C>A; p.D619E; 19:35341787-35341787 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1531C>T; p.R511W; 19:35341366-35341366 |
pancreas | carcinoma | Substitution - Missense |
c.2131C>A; p.R711S; 19:35344924-35344924 |
liver | carcinoma | Substitution - Missense |
c.2131C>A; p.R711S; 19:35344924-35344924 |
liver | carcinoma | Substitution - Missense |
c.2131C>A; p.R711S; 19:35344924-35344924 |
liver | carcinoma | Substitution - Missense |
c.2364G>A; p.P788P; 19:35346187-35346187 |
pancreas | carcinoma | Substitution - coding silent |
c.2364G>A; p.P788P; 19:35346187-35346187 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.117C>T; p.C39C; 19:35332629-35332629 |
pancreas | carcinoma | Substitution - coding silent |
c.2035+6G>A; p.?; 19:35341971-35341971 |
prostate | carcinoma | Unknown |
c.500G>T; p.C167F; 19:35336123-35336123 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.618C>T; p.F206F; 19:35336241-35336241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2220C>T; p.A740A; 19:35345613-35345613 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2326G>A; p.G776R; 19:35345719-35345719 |
skin | malignant_melanoma | Substitution - Missense |
c.2307G>C; p.E769D; 19:35345700-35345700 |
breast | carcinoma | Substitution - Missense |
c.1279C>G; p.Q427E; 19:35340910-35340910 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1712G>A; p.C571Y; 19:35341547-35341547 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1564G>A; p.G522R; 19:35341399-35341399 |
liver | carcinoma | Substitution - Missense |
c.1840C>T; p.L614L; 19:35341770-35341770 |
skin | malignant_melanoma | Substitution - coding silent |
c.1564G>A; p.G522R; 19:35341399-35341399 |
liver | carcinoma | Substitution - Missense |
c.1358G>C; p.R453P; 19:35340989-35340989 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1573G>T; p.V525F; 19:35341408-35341408 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1224C>T; p.G408G; 19:35338406-35338406 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2190C>A; p.F730L; 19:35345108-35345108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1855G>A; p.D619N; 19:35341785-35341785 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2072G>A; p.G691E; 19:35344865-35344865 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.118G>A; p.V40I; 19:35332630-35332630 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.795C>T; p.C265C; 19:35337831-35337831 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.718+1G>A; p.?; 19:35336342-35336342 |
breast | carcinoma | Unknown |
c.1760T>C; p.L587P; 19:35341595-35341595 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2373T>A; p.D791E; 19:35346196-35346196 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.513G>T; p.P171P; 19:35336136-35336136 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2184G>A; p.Q728Q; 19:35345102-35345102 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1876C>T; p.H626Y; 19:35341806-35341806 |
skin | malignant_melanoma | Substitution - Missense |
c.2320C>T; p.R774*; 19:35345713-35345713 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2379G>A; p.T793T; 19:35346202-35346202 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.890G>A; p.R297H; 19:35337926-35337926 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2514A>C; p.E838D; 19:35346667-35346667 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2514A>C; p.E838D; 19:35346667-35346667 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2296C>T; p.R766C; 19:35345689-35345689 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.612C>G; p.L204L; 19:35336235-35336235 |
breast | carcinoma | Substitution - coding silent |
c.224G>T; p.R75I; 19:35332736-35332736 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.172C>T; p.L58L; 19:35332684-35332684 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |