| Gene ID | 9156 |
| Symbol | EXO1 |
| Synonymous | HEX1|hExoI |
| Full name | exonuclease 1 |
| Gene description | hExo1|rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 |
| Cytoband | 1q43 |
| Gene type | protein-coding |
| Synonymous | MIM:606063; HGNC:HGNC:3511; Ensembl:ENSG00000174371; HPRD:06932; Vega:OTTHUMG00000039965 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.789G>A; p.M263I; 1:241860549-241860549 |
skin | malignant_melanoma | Substitution - Missense |
c.1760C>G; p.S587C; 1:241878994-241878994 |
breast | carcinoma | Substitution - Missense |
c.292G>A; p.A98T; 1:241853368-241853368 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2200C>G; p.L734V; 1:241882006-241882006 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.564_565insT; p.G190fs*5; 1:241858526-241858527 |
lung | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.429T>A; p.D143E; 1:241857368-241857368 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1872C>T; p.P624P; 1:241879106-241879106 |
skin | malignant_melanoma | Substitution - coding silent |
c.646C>T; p.R216C; 1:241858608-241858608 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2052G>A; p.L684L; 1:241879286-241879286 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2029C>T; p.Q677*; 1:241879263-241879263 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2387A>C; p.K796T; 1:241885489-241885489 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.432C>T; p.C144C; 1:241857371-241857371 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2352G>T; p.K784N; 1:241885454-241885454 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1630G>A; p.D544N; 1:241878864-241878864 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2110-2A>G; p.?; 1:241881914-241881914 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1700A>G; p.H567R; 1:241878934-241878934 |
liver | carcinoma | Substitution - Missense |
c.1700A>G; p.H567R; 1:241878934-241878934 |
liver | carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
thyroid | other; neoplasm | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
thyroid | other; neoplasm | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
thyroid | other; neoplasm | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
thyroid | other; neoplasm | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.493C>A; p.Q165K; 1:241857432-241857432 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1863G>A; p.T621T; 1:241879097-241879097 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - coding silent |
c.1863G>A; p.T621T; 1:241879097-241879097 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1863G>A; p.T621T; 1:241879097-241879097 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.1692G>A; p.P564P; 1:241878926-241878926 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1341T>C; p.S447S; 1:241872105-241872105 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1323G>T; p.K441N; 1:241872087-241872087 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1084C>T; p.Q362*; 1:241866872-241866872 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1621G>A; p.E541K; 1:241878855-241878855 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.595C>T; p.R199W; 1:241858557-241858557 |
pancreas | carcinoma | Substitution - Missense |
c.595C>T; p.R199W; 1:241858557-241858557 |
pancreas | carcinoma | Substitution - Missense |
c.1945T>C; p.S649P; 1:241879179-241879179 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.595C>T; p.R199W; 1:241858557-241858557 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.595C>T; p.R199W; 1:241858557-241858557 |
pancreas | carcinoma | Substitution - Missense |
c.533G>T; p.G178V; 1:241857472-241857472 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.482C>T; p.A161V; 1:241857421-241857421 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2397A>T; p.G799G; 1:241885499-241885499 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1600G>T; p.E534*; 1:241878834-241878834 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1691C>T; p.P564L; 1:241878925-241878925 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2322G>A; p.Q774Q; 1:241885424-241885424 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1041+1G>T; p.?; 1:241861503-241861503 |
lung | carcinoma; small_cell_carcinoma | Unknown |
c.452C>T; p.A151V; 1:241857391-241857391 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1740T>C; p.F580F; 1:241878974-241878974 |
skin | malignant_melanoma | Substitution - coding silent |
c.217C>A; p.P73T; 1:241852347-241852347 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1228C>A; p.L410I; 1:241867016-241867016 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1615G>T; p.E539*; 1:241878849-241878849 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.433C>A; p.L145I; 1:241857372-241857372 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1403C>A; p.T468N; 1:241872167-241872167 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2450T>G; p.V817G; 1:241889509-241889509 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1267+2T>C; p.?; 1:241867057-241867057 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1270G>T; p.E424*; 1:241872034-241872034 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1488A>T; p.A496A; 1:241872252-241872252 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2175T>A; p.S725S; 1:241881981-241881981 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1978A>T; p.S660C; 1:241879212-241879212 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1751A>G; p.E584G; 1:241878985-241878985 |
pancreas | carcinoma | Substitution - Missense |
c.2119T>C; p.C707R; 1:241881925-241881925 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1636G>T; p.E546*; 1:241878870-241878870 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.331delA; p.V112fs*22; 1:241853407-241853407 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1330A>G; p.K444E; 1:241872094-241872094 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.474T>C; p.L158L; 1:241857413-241857413 |
skin | malignant_melanoma | Substitution - coding silent |
c.1352A>C; p.K451T; 1:241872116-241872116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1481G>C; p.S494T; 1:241872245-241872245 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2446C>T; p.P816S; 1:241889505-241889505 |
liver | carcinoma | Substitution - Missense |
c.1998C>T; p.P666P; 1:241879232-241879232 |
skin | malignant_melanoma | Substitution - coding silent |
c.1547T>C; p.V516A; 1:241878781-241878781 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059T>C; p.S353S; 1:241866847-241866847 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.47C>T; p.P16L; 1:241850472-241850472 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.375C>T; p.I125I; 1:241853451-241853451 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.543+2T>C; p.?; 1:241857484-241857484 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1737G>A; p.V579V; 1:241878971-241878971 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.596G>T; p.R199L; 1:241858558-241858558 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1683T>C; p.D561D; 1:241878917-241878917 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2153A>T; p.Q718L; 1:241881959-241881959 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2041G>T; p.E681*; 1:241879275-241879275 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1454C>T; p.T485I; 1:241872218-241872218 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1376T>C; p.F459S; 1:241872140-241872140 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1376T>C; p.F459S; 1:241872140-241872140 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.142A>G; p.K48E; 1:241850567-241850567 |
skin | malignant_melanoma | Substitution - Missense |
c.2446C>A; p.P816T; 1:241889505-241889505 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.282-1G>A; p.?; 1:241853357-241853357 |
skin | malignant_melanoma | Unknown |
c.210G>T; p.G70G; 1:241852340-241852340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1588G>A; p.V530I; 1:241878822-241878822 |
breast | carcinoma | Substitution - Missense |
c.1900C>A; p.R634R; 1:241879134-241879134 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1930C>T; p.P644S; 1:241879164-241879164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1930C>T; p.P644S; 1:241879164-241879164 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1415G>T; p.S472I; 1:241872179-241872179 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.642_646delGTTTC; p.F215fs*9; 1:241858604-241858608 |
NS | NS | Deletion - Frameshift |
c.1899C>T; p.F633F; 1:241879133-241879133 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.633G>C; p.T211T; 1:241858595-241858595 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2426C>T; p.P809L; 1:241889485-241889485 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1119G>A; p.R373R; 1:241866907-241866907 |
skin | malignant_melanoma | Substitution - coding silent |
c.1119G>A; p.R373R; 1:241866907-241866907 |
skin | malignant_melanoma | Substitution - coding silent |
c.1316C>T; p.T439M; 1:241872080-241872080 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1316C>T; p.T439M; 1:241872080-241872080 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1900C>T; p.R634*; 1:241879134-241879134 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1487C>T; p.A496V; 1:241872251-241872251 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2231C>G; p.S744C; 1:241885333-241885333 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1900C>T; p.R634*; 1:241879134-241879134 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1900C>T; p.R634*; 1:241879134-241879134 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1316C>T; p.T439M; 1:241872080-241872080 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2090G>A; p.S697N; 1:241879324-241879324 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2438C>T; p.P813L; 1:241889497-241889497 |
skin | malignant_melanoma | Substitution - Missense |
c.1682A>T; p.D561V; 1:241878916-241878916 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2272C>T; p.L758L; 1:241885374-241885374 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1819A>G; p.S607G; 1:241879053-241879053 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2005G>T; p.E669*; 1:241879239-241879239 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1372G>A; p.V458M; 1:241872136-241872136 |
thyroid | other; neoplasm | Substitution - Missense |
c.983G>T; p.G328V; 1:241861444-241861444 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1372G>A; p.V458M; 1:241872136-241872136 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2357G>A; p.G786E; 1:241885459-241885459 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2404A>C; p.K802Q; 1:241885506-241885506 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.30C>G; p.I10M; 1:241850455-241850455 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1589T>C; p.V530A; 1:241878823-241878823 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.589C>T; p.Q197*; 1:241858551-241858551 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2367C>G; p.I789M; 1:241885469-241885469 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1020C>T; p.D340D; 1:241861481-241861481 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1717A>C; p.I573L; 1:241878951-241878951 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.796A>G; p.T266A; 1:241860556-241860556 |
skin | malignant_melanoma | Substitution - Missense |
c.1838G>T; p.G613V; 1:241879072-241879072 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.842C>T; p.T281I; 1:241860602-241860602 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.988A>G; p.K330E; 1:241861449-241861449 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2406-1G>T; p.?; 1:241889464-241889464 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.1535C>A; p.S512Y; 1:241878769-241878769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1438A>T; p.R480*; 1:241872202-241872202 |
lung; left_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.61A>G; p.K21E; 1:241850486-241850486 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1168T>G; p.L390V; 1:241866956-241866956 |
breast | carcinoma | Substitution - Missense |
c.1951G>A; p.V651M; 1:241879185-241879185 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516delT; p.C508fs*13; 1:241878750-241878750 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2477A>T; p.E826V; 1:241889536-241889536 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516delT; p.C508fs*13; 1:241878750-241878750 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2355G>A; p.P785P; 1:241885457-241885457 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.225C>T; p.L75L; 1:241852355-241852355 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1655A>G; p.D552G; 1:241878889-241878889 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1331A>C; p.K444T; 1:241872095-241872095 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1201C>T; p.R401*; 1:241866989-241866989 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1024A>C; p.N342H; 1:241861485-241861485 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.322C>T; p.R108C; 1:241853398-241853398 |
skin | malignant_melanoma | Substitution - Missense |
c.1155A>T; p.S385S; 1:241866943-241866943 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1969G>A; p.E657K; 1:241879203-241879203 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.209G>A; p.G70E; 1:241852339-241852339 |
skin | malignant_melanoma | Substitution - Missense |
c.286C>T; p.R96*; 1:241853362-241853362 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1331A>G; p.K444R; 1:241872095-241872095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1670G>A; p.R557H; 1:241878904-241878904 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1139A>G; p.E380G; 1:241866927-241866927 |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III | Substitution - Missense |
c.102G>T; p.W34C; 1:241850527-241850527 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2270C>T; p.P757L; 1:241885372-241885372 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2007A>C; p.E669D; 1:241879241-241879241 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.797C>T; p.T266M; 1:241860557-241860557 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1391T>C; p.V464A; 1:241872155-241872155 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.836A>G; p.N279S; 1:241860596-241860596 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.458C>T; p.A153V; 1:241857397-241857397 |
stomach | adenocarcinoma | Substitution - Missense |
c.2285G>T; p.R762I; 1:241885387-241885387 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.349G>T; p.E117*; 1:241853425-241853425 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2356G>T; p.G786W; 1:241885458-241885458 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1332A>G; p.K444K; 1:241872096-241872096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1373T>C; p.V458A; 1:241872137-241872137 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1008A>G; p.E336E; 1:241861469-241861469 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.282-2A>T; p.?; 1:241853356-241853356 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2084G>A; p.C695Y; 1:241879318-241879318 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1765G>A; p.E589K; 1:241878999-241878999 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765G>A; p.E589K; 1:241878999-241878999 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765G>A; p.E589K; 1:241878999-241878999 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1765G>A; p.E589K; 1:241878999-241878999 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1122T>C; p.N374N; 1:241866910-241866910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1765G>A; p.E589K; 1:241878999-241878999 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1202G>A; p.R401Q; 1:241866990-241866990 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2107G>A; p.E703K; 1:241879341-241879341 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2388A>G; p.K796K; 1:241885490-241885490 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.348A>G; p.R116R; 1:241853424-241853424 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2388A>G; p.K796K; 1:241885490-241885490 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.798G>A; p.T266T; 1:241860558-241860558 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1862C>T; p.T621M; 1:241879096-241879096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.712G>T; p.A238S; 1:241858674-241858674 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2270C>A; p.P757H; 1:241885372-241885372 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2128A>T; p.K710*; 1:241881934-241881934 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.315A>G; p.Q105Q; 1:241853391-241853391 |
skin | malignant_melanoma | Substitution - coding silent |
c.340G>A; p.E114K; 1:241853416-241853416 |
breast | carcinoma | Substitution - Missense |
c.889C>T; p.P297S; 1:241860649-241860649 |
skin | malignant_melanoma | Substitution - Missense |
c.344C>A; p.A115D; 1:241853420-241853420 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2483A>C; p.E828A; 1:241889542-241889542 |
ovary | carcinoma | Substitution - Missense |
c.1529C>T; p.S510L; 1:241878763-241878763 |
skin | malignant_melanoma | Substitution - Missense |
c.413G>A; p.R138Q; 1:241857352-241857352 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.593C>A; p.A198D; 1:241858555-241858555 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.916G>A; p.D306N; 1:241860676-241860676 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.335T>A; p.V112D; 1:241853411-241853411 |
central_nervous_system; spinal_cord | glioma; ependymoma | Substitution - Missense |
c.506C>T; p.T169I; 1:241857445-241857445 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2406A>T; p.K802N; 1:241889465-241889465 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.520C>G; p.L174V; 1:241857459-241857459 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |