| Gene ID | 10512 |
| Symbol | SEMA3C |
| Synonymous | SEMAE|SemE |
| Full name | sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C |
| Gene description | sema E|semaphorin E|semaphorin-3C|semaphorin-E |
| Cytoband | 7q21-q31 |
| Gene type | protein-coding |
| Synonymous | MIM:602645; HGNC:HGNC:10725; Ensembl:ENSG00000075223; HPRD:04034; Vega:OTTHUMG00000023447 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1751A>G; p.K584R; 7:80748989-80748989 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.330C>T; p.H110H; 7:80818416-80818416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.547C>T; p.L183F; 7:80805750-80805750 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1564G>A; p.A522T; 7:80758410-80758410 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1564G>A; p.A522T; 7:80758410-80758410 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1564G>A; p.A522T; 7:80758410-80758410 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.683T>C; p.V228A; 7:80804224-80804224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1094C>T; p.S365F; 7:80798129-80798129 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1046T>G; p.F349C; 7:80798177-80798177 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1347C>A; p.L449L; 7:80789313-80789313 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1521C>T; p.S507S; 7:80758453-80758453 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1265G>A; p.R422H; 7:80789395-80789395 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1588C>T; p.P530S; 7:80758386-80758386 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.335G>T; p.C112F; 7:80818411-80818411 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1049A>T; p.N350I; 7:80798174-80798174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.325A>C; p.T109P; 7:80827427-80827427 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1126G>T; p.G376*; 7:80798097-80798097 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.471C>G; p.S157S; 7:80810678-80810678 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.821G>C; p.R274P; 7:80802760-80802760 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630C>A; p.P544T; 7:80758344-80758344 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2137C>G; p.R713G; 7:80745013-80745013 |
NS | malignant_melanoma | Substitution - Missense |
c.2179G>T; p.G727W; 7:80744971-80744971 |
liver | carcinoma | Substitution - Missense |
c.1603G>A; p.D535N; 7:80758371-80758371 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287T>C; p.Y429Y; 7:80789373-80789373 |
thyroid | other; neoplasm | Substitution - coding silent |
c.658+1G>A; p.?; 7:80805638-80805638 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; non_functioning | Unknown |
c.1930A>T; p.I644F; 7:80745220-80745220 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1106G>C; p.R369T; 7:80798117-80798117 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.965A>G; p.Y322C; 7:80800778-80800778 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1913A>T; p.Q638L; 7:80745237-80745237 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.109C>T; p.R37*; 7:80828740-80828740 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.451C>G; p.Q151E; 7:80810698-80810698 |
skin | malignant_melanoma | Substitution - Missense |
c.599G>A; p.R200Q; 7:80805698-80805698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.599G>A; p.R200Q; 7:80805698-80805698 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251G>A; p.R417R; 7:80789409-80789409 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.730T>C; p.F244L; 7:80804177-80804177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.730T>C; p.F244L; 7:80804177-80804177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1110T>A; p.I370I; 7:80798113-80798113 |
skin | malignant_melanoma | Substitution - coding silent |
c.174A>G; p.L58L; 7:80828675-80828675 |
NS | malignant_melanoma | Substitution - coding silent |
c.1673G>A; p.G558E; 7:80751307-80751307 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1673G>A; p.G558E; 7:80751307-80751307 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.174A>G; p.L58L; 7:80828675-80828675 |
NS | malignant_melanoma | Substitution - coding silent |
c.1582C>T; p.R528W; 7:80758392-80758392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1582C>T; p.R528W; 7:80758392-80758392 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1582C>T; p.R528W; 7:80758392-80758392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.819G>A; p.L273L; 7:80802762-80802762 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1582C>T; p.R528W; 7:80758392-80758392 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2245C>A; p.P749T; 7:80744905-80744905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.958C>A; p.L320I; 7:80800785-80800785 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.466G>A; p.D156N; 7:80810683-80810683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216C>T; p.L406F; 7:80789444-80789444 |
skin | malignant_melanoma | Substitution - Missense |
c.389G>T; p.C130F; 7:80818357-80818357 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2239C>T; p.Q747*; 7:80744911-80744911 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1958C>T; p.T653I; 7:80745192-80745192 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1117C>T; p.P373S; 7:80798106-80798106 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1665G>T; p.V555V; 7:80751315-80751315 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.645C>A; p.S215S; 7:80805652-80805652 |
liver | carcinoma | Substitution - coding silent |
c.645C>A; p.S215S; 7:80805652-80805652 |
liver | carcinoma | Substitution - coding silent |
c.1323T>C; p.D441D; 7:80789337-80789337 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.872C>T; p.S291L; 7:80802709-80802709 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348G>A; p.G450R; 7:80789312-80789312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.545A>T; p.E182V; 7:80805752-80805752 |
liver | carcinoma | Substitution - Missense |
c.545A>T; p.E182V; 7:80805752-80805752 |
liver | carcinoma | Substitution - Missense |
c.1008C>T; p.A336A; 7:80798215-80798215 |
breast | carcinoma | Substitution - coding silent |
c.1087C>T; p.L363L; 7:80798136-80798136 |
pancreas | carcinoma | Substitution - coding silent |
c.1095C>T; p.S365S; 7:80798128-80798128 |
skin | malignant_melanoma | Substitution - coding silent |
c.801+1G>C; p.?; 7:80804105-80804105 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Unknown |
c.847T>G; p.F283V; 7:80802734-80802734 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1056T>A; p.P352P; 7:80798167-80798167 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1233C>G; p.I411M; 7:80789427-80789427 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1567G>A; p.D523N; 7:80758407-80758407 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1492T>A; p.L498M; 7:80758482-80758482 |
haematopoietic_and_lymphoid_tissue; soft_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.1643+1G>A; p.?; 7:80758330-80758330 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1315G>A; p.A439T; 7:80789345-80789345 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.495C>T; p.R165R; 7:80810654-80810654 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1665G>C; p.V555V; 7:80751315-80751315 |
pancreas | carcinoma | Substitution - coding silent |
c.1665G>C; p.V555V; 7:80751315-80751315 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1576C>G; p.L526V; 7:80758398-80758398 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1576C>G; p.L526V; 7:80758398-80758398 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2180G>C; p.G727A; 7:80744970-80744970 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2180G>C; p.G727A; 7:80744970-80744970 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.401C>T; p.A134V; 7:80818345-80818345 |
breast | carcinoma | Substitution - Missense |
c.1802T>C; p.I601T; 7:80748938-80748938 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1802T>C; p.I601T; 7:80748938-80748938 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.265-3C>A; p.?; 7:80827490-80827490 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Unknown |
c.2034C>T; p.T678T; 7:80745116-80745116 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.554C>T; p.S185F; 7:80805743-80805743 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1602G>T; p.W534C; 7:80758372-80758372 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343T>A; p.F448Y; 7:80789317-80789317 |
skin | malignant_melanoma | Substitution - Missense |
c.74C>A; p.P25H; 7:80916708-80916708 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1174G>T; p.E392*; 7:80789486-80789486 |
breast | carcinoma | Substitution - Nonsense |
c.1144G>A; p.A382T; 7:80789516-80789516 |
kidney | other; neoplasm | Substitution - Missense |
c.620C>T; p.A207V; 7:80805677-80805677 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1424A>T; p.E475V; 7:80765174-80765174 |
ovary | other; neoplasm | Substitution - Missense |
c.620C>T; p.A207V; 7:80805677-80805677 |
breast | carcinoma | Substitution - Missense |
c.1719delA; p.N574fs*10; 7:80749021-80749021 |
lung | carcinoma; large_cell_carcinoma | Deletion - Frameshift |
c.448-10T>C; p.?; 7:80810711-80810711 |
liver | carcinoma | Unknown |
c.1111C>T; p.P371S; 7:80798112-80798112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1992A>T; p.S664S; 7:80745158-80745158 |
kidney | other; neoplasm | Substitution - coding silent |
c.1478C>A; p.S493Y; 7:80761623-80761623 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1727C>T; p.A576V; 7:80749013-80749013 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.778T>G; p.S260A; 7:80804129-80804129 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1112C>T; p.P371L; 7:80798111-80798111 |
NS | malignant_melanoma | Substitution - Missense |
c.1112C>T; p.P371L; 7:80798111-80798111 |
skin | malignant_melanoma | Substitution - Missense |
c.522G>A; p.T174T; 7:80810627-80810627 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2087C>A; p.A696E; 7:80745063-80745063 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1485G>T; p.K495N; 7:80761616-80761616 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.371G>A; p.R124H; 7:80818375-80818375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1420C>T; p.L474L; 7:80765178-80765178 |
breast | carcinoma | Substitution - coding silent |
c.1892G>T; p.R631L; 7:80745258-80745258 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2012C>T; p.T671M; 7:80745138-80745138 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1585G>A; p.D529N; 7:80758389-80758389 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.644C>A; p.S215Y; 7:80805653-80805653 |
liver | carcinoma | Substitution - Missense |
c.644C>A; p.S215Y; 7:80805653-80805653 |
liver | carcinoma | Substitution - Missense |
c.819G>C; p.L273L; 7:80802762-80802762 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.968G>A; p.G323D; 7:80800775-80800775 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1351A>G; p.T451A; 7:80789309-80789309 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1139G>A; p.G380E; 7:80789521-80789521 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1332C>A; p.Y444*; 7:80789328-80789328 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1351A>G; p.T451A; 7:80789309-80789309 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2025C>T; p.S675S; 7:80745125-80745125 |
skin | malignant_melanoma | Substitution - coding silent |
c.1361G>T; p.G454V; 7:80765237-80765237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.658G>A; p.E220K; 7:80805639-80805639 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.658G>A; p.E220K; 7:80805639-80805639 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1411G>A; p.E471K; 7:80765187-80765187 |
liver | carcinoma | Substitution - Missense |
c.1411G>A; p.E471K; 7:80765187-80765187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1749A>G; p.V583V; 7:80748991-80748991 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.144C>T; p.S48S; 7:80828705-80828705 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.292G>T; p.V98F; 7:80827460-80827460 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2137C>T; p.R713W; 7:80745013-80745013 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2053G>A; p.A685T; 7:80745097-80745097 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400G>A; p.A134T; 7:80818346-80818346 |
breast | carcinoma | Substitution - Missense |
c.862C>T; p.L288L; 7:80802719-80802719 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1206G>T; p.R402R; 7:80789454-80789454 |
skin | malignant_melanoma | Substitution - coding silent |
c.1607G>A; p.G536D; 7:80758367-80758367 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.735A>T; p.K245N; 7:80804172-80804172 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357C>T; p.R453W; 7:80765241-80765241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1357C>T; p.R453W; 7:80765241-80765241 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1357C>T; p.R453W; 7:80765241-80765241 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.54T>C; p.C18C; 7:80916728-80916728 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1316C>A; p.A439D; 7:80789344-80789344 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1820A>C; p.K607T; 7:80748920-80748920 |
kidney | other; neoplasm | Substitution - Missense |
c.845C>T; p.T282I; 7:80802736-80802736 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.764C>T; p.T255M; 7:80804143-80804143 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.332G>A; p.G111D; 7:80818414-80818414 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.857C>T; p.A286V; 7:80802724-80802724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.659-1G>T; p.?; 7:80804249-80804249 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2138G>A; p.R713Q; 7:80745012-80745012 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2013G>A; p.T671T; 7:80745137-80745137 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.743T>C; p.L248P; 7:80804164-80804164 |
liver | carcinoma | Substitution - Missense |
c.1826A>G; p.K609R; 7:80748914-80748914 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1111C>G; p.P371A; 7:80798112-80798112 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.20G>T; p.C7F; 7:80916762-80916762 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.360_367delGACTTTCA; p.T121fs*33; 7:80818379-80818386 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2242T>C; p.L748L; 7:80744908-80744908 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1842+3G>A; p.?; 7:80748895-80748895 |
liver | carcinoma | Unknown |
c.1842+3G>A; p.?; 7:80748895-80748895 |
liver | carcinoma | Unknown |
c.1042G>T; p.V348L; 7:80798181-80798181 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.923T>A; p.V308E; 7:80800820-80800820 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.527C>T; p.S176F; 7:80810622-80810622 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1167C>T; p.T389T; 7:80789493-80789493 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.659-2A>G; p.?; 7:80804250-80804250 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Unknown |
c.543G>A; p.E181E; 7:80805754-80805754 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2222G>A; p.S741N; 7:80744928-80744928 |
skin | malignant_melanoma | Substitution - Missense |
c.1142_1144delGAG; p.G381delG; 7:80789516-80789518 |
breast | carcinoma | Deletion - In frame |
c.962T>C; p.V321A; 7:80800781-80800781 |
liver | carcinoma | Substitution - Missense |
c.962T>C; p.V321A; 7:80800781-80800781 |
liver | carcinoma | Substitution - Missense |
c.1198T>G; p.F400V; 7:80789462-80789462 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.128A>C; p.E43A; 7:80828721-80828721 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1832G>T; p.R611M; 7:80748908-80748908 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.534G>A; p.M178I; 7:80810615-80810615 |
breast | carcinoma | Substitution - Missense |
c.1017_1018delGT; p.Y340fs*4; 7:80798205-80798206 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1017_1018delGT; p.Y340fs*4; 7:80798205-80798206 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1017_1018delGT; p.Y340fs*4; 7:80798205-80798206 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1555A>G; p.T519A; 7:80758419-80758419 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1678C>T; p.P560S; 7:80751302-80751302 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2156G>A; p.G719E; 7:80744994-80744994 |
breast | carcinoma | Substitution - Missense |
c.1408G>T; p.G470C; 7:80765190-80765190 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.354A>C; p.V118V; 7:80818392-80818392 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - coding silent |
c.1586A>G; p.D529G; 7:80758388-80758388 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |