| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 144455 |
Name | E2F7 |
Synonymous | E2F transcription factor 7;E2F7;E2F transcription factor 7 |
Definition | E2F-7|transcription factor E2F7 |
Position | 12q21.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.417G>A; p.R139R; 12:77050697-77050697 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.584C>T; p.S195L; 12:77046283-77046283 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2050A>T; p.R684*; 12:77027973-77027973 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2149G>T; p.G717C; 12:77025974-77025974 |
thyroid | other; neoplasm | Substitution - Missense |
c.306G>T; p.E102D; 12:77055918-77055918 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1197C>A; p.V399V; 12:77033969-77033969 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.79G>C; p.E27Q; 12:77064557-77064557 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.657G>A; p.L219L; 12:77046210-77046210 |
breast | carcinoma | Substitution - coding silent |
c.673C>T; p.L225L; 12:77046194-77046194 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - coding silent |
c.673C>T; p.L225L; 12:77046194-77046194 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.636G>C; p.R212R; 12:77046231-77046231 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2070G>T; p.K690N; 12:77027953-77027953 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.712C>T; p.L238F; 12:77046155-77046155 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2725G>T; p.G909C; 12:77024026-77024026 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1458C>A; p.L486L; 12:77030257-77030257 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.478A>C; p.S160R; 12:77050636-77050636 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.345C>T; p.D115D; 12:77055879-77055879 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.152C>A; p.P51Q; 12:77056072-77056072 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.152C>A; p.P51Q; 12:77056072-77056072 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2295G>A; p.P765P; 12:77025828-77025828 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2199G>A; p.P733P; 12:77025924-77025924 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1309+7G>A; p.?; 12:77033850-77033850 |
liver | carcinoma | Unknown |
c.478A>G; p.S160G; 12:77050636-77050636 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2193G>A; p.V731V; 12:77025930-77025930 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.478A>G; p.S160G; 12:77050636-77050636 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1309+7G>A; p.?; 12:77033850-77033850 |
liver | carcinoma | Unknown |
c.1309+1G>T; p.?; 12:77033856-77033856 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.807C>A; p.F269L; 12:77046060-77046060 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.717A>T; p.Q239H; 12:77046150-77046150 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.717A>T; p.Q239H; 12:77046150-77046150 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.2332A>G; p.T778A; 12:77025791-77025791 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.221A>G; p.D74G; 12:77056003-77056003 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.898G>A; p.V300I; 12:77044727-77044727 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.18A>G; p.L6L; 12:77064618-77064618 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.316G>T; p.G106*; 12:77055908-77055908 |
skin | malignant_melanoma | Substitution - Nonsense |
c.369G>T; p.Q123H; 12:77055855-77055855 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.862A>T; p.R288*; 12:77044763-77044763 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.314delA; p.K105fs*43; 12:77055910-77055910 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1080A>C; p.K360N; 12:77043108-77043108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.554G>A; p.R185H; 12:77046313-77046313 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2416T>C; p.S806P; 12:77025707-77025707 |
liver | carcinoma | Substitution - Missense |
c.554G>A; p.R185H; 12:77046313-77046313 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.150A>G; p.E50E; 12:77056074-77056074 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2416T>C; p.S806P; 12:77025707-77025707 |
liver | carcinoma | Substitution - Missense |
c.554G>A; p.R185H; 12:77046313-77046313 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.554G>A; p.R185H; 12:77046313-77046313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.150A>G; p.E50E; 12:77056074-77056074 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.399C>T; p.D133D; 12:77050715-77050715 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1070G>A; p.R357Q; 12:77043118-77043118 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807C>T; p.Q603*; 12:77029908-77029908 |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.3G>T; p.M1I; 12:77064633-77064633 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1001G>A; p.R334H; 12:77043187-77043187 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.251C>A; p.T84K; 12:77055973-77055973 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.282C>T; p.A94A; 12:77055942-77055942 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2639T>A; p.L880H; 12:77024112-77024112 |
thyroid | other; neoplasm | Substitution - Missense |
c.724G>T; p.E242*; 12:77046143-77046143 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2611G>A; p.E871K; 12:77024140-77024140 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2562T>A; p.H854Q; 12:77025561-77025561 |
skin | malignant_melanoma | Substitution - Missense |
c.1769C>T; p.P590L; 12:77029946-77029946 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2100G>T; p.E700D; 12:77027923-77027923 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.574G>A; p.V192M; 12:77046293-77046293 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2156A>T; p.N719I; 12:77025967-77025967 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1697C>T; p.A566V; 12:77030018-77030018 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2156A>T; p.N719I; 12:77025967-77025967 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2080G>C; p.E694Q; 12:77027943-77027943 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.2479G>A; p.V827M; 12:77025644-77025644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.470G>A; p.R157H; 12:77050644-77050644 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1772C>G; p.S591*; 12:77029943-77029943 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.505A>G; p.T169A; 12:77050609-77050609 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.939A>C; p.K313N; 12:77044686-77044686 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2217G>A; p.P739P; 12:77025906-77025906 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.939A>C; p.K313N; 12:77044686-77044686 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.939A>C; p.K313N; 12:77044686-77044686 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1960C>T; p.H654Y; 12:77028063-77028063 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2044C>A; p.P682T; 12:77027979-77027979 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1217C>T; p.A406V; 12:77033949-77033949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2065G>T; p.E689*; 12:77027958-77027958 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2230C>T; p.P744S; 12:77025893-77025893 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1821G>A; p.E607E; 12:77029894-77029894 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1432G>C; p.D478H; 12:77030283-77030283 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1577T>G; p.L526R; 12:77030138-77030138 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2020C>T; p.L674F; 12:77028003-77028003 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1076G>T; p.R359L; 12:77043112-77043112 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.452G>C; p.C151S; 12:77050662-77050662 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.2243T>A; p.L748*; 12:77025880-77025880 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2524G>A; p.V842I; 12:77025599-77025599 |
skin | malignant_melanoma | Substitution - Missense |
c.314A>G; p.K105R; 12:77055910-77055910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.400G>A; p.E134K; 12:77050714-77050714 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.400G>A; p.E134K; 12:77050714-77050714 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1245G>T; p.Q415H; 12:77033921-77033921 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1298G>A; p.R433K; 12:77033868-77033868 |
skin | malignant_melanoma | Substitution - Missense |
c.1151C>T; p.S384F; 12:77034015-77034015 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.113G>A; p.R38Q; 12:77056111-77056111 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.370-2A>T; p.?; 12:77050746-77050746 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Unknown |
c.1599G>T; p.V533V; 12:77030116-77030116 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.838A>T; p.N280Y; 12:77044787-77044787 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2576C>T; p.P859L; 12:77024175-77024175 |
skin | malignant_melanoma | Substitution - Missense |
c.1745_1746CC>TT; p.A582V; 12:77029969-77029970 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1468C>T; p.P490S; 12:77030247-77030247 |
pancreas | carcinoma | Substitution - Missense |
c.2522C>A; p.P841H; 12:77025601-77025601 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1385G>A; p.G462E; 12:77030330-77030330 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2724C>T; p.G908G; 12:77024027-77024027 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1600G>T; p.E534*; 12:77030115-77030115 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.111T>A; p.D37E; 12:77056113-77056113 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1987G>C; p.E663Q; 12:77028036-77028036 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.997C>T; p.R333*; 12:77043191-77043191 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.451T>C; p.C151R; 12:77050663-77050663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.451T>C; p.C151R; 12:77050663-77050663 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2600G>A; p.R867H; 12:77024151-77024151 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.451T>C; p.C151R; 12:77050663-77050663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.451T>C; p.C151R; 12:77050663-77050663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.997C>T; p.R333*; 12:77043191-77043191 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1350T>C; p.A450A; 12:77033082-77033082 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2355G>T; p.L785F; 12:77025768-77025768 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.27delA; p.D10fs*2; 12:77064609-77064609 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1139A>G; p.D380G; 12:77034027-77034027 |
breast | carcinoma | Substitution - Missense |
c.1099G>A; p.G367R; 12:77043089-77043089 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.561T>C; p.Y187Y; 12:77046306-77046306 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1267A>T; p.K423*; 12:77033899-77033899 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1334T>C; p.I445T; 12:77033098-77033098 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1028C>T; p.T343I; 12:77043160-77043160 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.878A>C; p.K293T; 12:77044747-77044747 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1181_1182delAT; p.Y394fs*18; 12:77033984-77033985 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.2650G>A; p.V884I; 12:77024101-77024101 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2535A>G; p.G845G; 12:77025588-77025588 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2488A>T; p.R830W; 12:77025635-77025635 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2712_2713delAA; p.E904fs*7; 12:77024038-77024039 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1784G>A; p.R595H; 12:77029931-77029931 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.656T>C; p.L219P; 12:77046211-77046211 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.912G>T; p.K304N; 12:77044713-77044713 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1617A>C; p.A539A; 12:77030098-77030098 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1634C>T; p.P545L; 12:77030081-77030081 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2727C>T; p.G909G; 12:77024024-77024024 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1832A>T; p.K611I; 12:77029883-77029883 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.160T>G; p.L54V; 12:77056064-77056064 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1216G>T; p.A406S; 12:77033950-77033950 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2154C>T; p.F718F; 12:77025969-77025969 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1533A>C; p.A511A; 12:77030182-77030182 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; essential_thrombocythaemia | Substitution - coding silent |
c.2154C>T; p.F718F; 12:77025969-77025969 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1706C>T; p.S569L; 12:77030009-77030009 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1508C>T; p.S503F; 12:77030207-77030207 |
skin | malignant_melanoma | Substitution - Missense |
c.1508C>T; p.S503F; 12:77030207-77030207 |
skin | malignant_melanoma | Substitution - Missense |
c.2530G>A; p.V844M; 12:77025593-77025593 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.776C>T; p.P259L; 12:77046091-77046091 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.766G>A; p.D256N; 12:77046101-77046101 |
breast | carcinoma | Substitution - Missense |
c.2077A>C; p.K693Q; 12:77027946-77027946 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1178C>T; p.T393I; 12:77033988-77033988 |
pancreas | carcinoma | Substitution - Missense |
c.1776T>A; p.A592A; 12:77029939-77029939 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1621C>T; p.L541F; 12:77030094-77030094 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.969A>G; p.P323P; 12:77044656-77044656 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.164C>T; p.S55L; 12:77056060-77056060 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1223A>G; p.H408R; 12:77033943-77033943 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.527C>A; p.A176D; 12:77050587-77050587 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2615C>T; p.T872M; 12:77024136-77024136 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2186delC; p.P729fs*53; 12:77025937-77025937 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.298G>T; p.D100Y; 12:77055926-77055926 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.177_178insA; p.F60fs*12; 12:77056046-77056047 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1092G>C; p.K364N; 12:77043096-77043096 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2643A>G; p.G881G; 12:77024108-77024108 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.392C>A; p.A131D; 12:77050722-77050722 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2123G>T; p.C708F; 12:77027900-77027900 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.177delA; p.K59fs*29; 12:77056047-77056047 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.148G>A; p.E50K; 12:77056076-77056076 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2580G>A; p.V860V; 12:77024171-77024171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.268C>A; p.L90I; 12:77055956-77055956 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2318G>A; p.G773D; 12:77025805-77025805 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1011C>G; p.D337E; 12:77043177-77043177 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.817G>A; p.D273N; 12:77046050-77046050 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1539C>T; p.S513S; 12:77030176-77030176 |
skin | malignant_melanoma | Substitution - coding silent |
c.2736A>C; p.*912Y; 12:77024015-77024015 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Nonstop extension |
c.2336G>A; p.G779E; 12:77025787-77025787 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2336G>A; p.G779E; 12:77025787-77025787 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma | Substitution - Missense |
c.1293G>A; p.P431P; 12:77033873-77033873 |
liver | carcinoma | Substitution - coding silent |
c.2134C>T; p.P712S; 12:77027889-77027889 |
skin | malignant_melanoma | Substitution - Missense |
c.2440C>T; p.P814S; 12:77025683-77025683 |
skin | malignant_melanoma | Substitution - Missense |
c.2440C>T; p.P814S; 12:77025683-77025683 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.346G>A; p.D116N; 12:77055878-77055878 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2566-4delT; p.?; 12:77024189-77024189 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.301C>T; p.R101W; 12:77055923-77055923 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.48G>A; p.Q16Q; 12:77064588-77064588 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1584T>C; p.S528S; 12:77030131-77030131 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862A>G; p.R288G; 12:77044763-77044763 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.324C>T; p.F108F; 12:77055900-77055900 |
skin | malignant_melanoma | Substitution - coding silent |
c.1362G>A; p.Q454Q; 12:77033070-77033070 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.112C>T; p.R38*; 12:77056112-77056112 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.946A>G; p.I316V; 12:77044679-77044679 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.946A>G; p.I316V; 12:77044679-77044679 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1714G>A; p.E572K; 12:77030001-77030001 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.112C>T; p.R38*; 12:77056112-77056112 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.946A>G; p.I316V; 12:77044679-77044679 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2296G>T; p.G766C; 12:77025827-77025827 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1566G>A; p.V522V; 12:77030149-77030149 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1971C>T; p.G657G; 12:77028052-77028052 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.699G>T; p.E233D; 12:77046168-77046168 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.699G>T; p.E233D; 12:77046168-77046168 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1693C>A; p.P565T; 12:77030022-77030022 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.699G>T; p.E233D; 12:77046168-77046168 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2398G>T; p.A800S; 12:77025725-77025725 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.146delA; p.N49fs*39; 12:77056078-77056078 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.146delA; p.N49fs*39; 12:77056078-77056078 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2722G>A; p.G908S; 12:77024029-77024029 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2634C>A; p.G878G; 12:77024117-77024117 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.260T>G; p.L87R; 12:77055964-77055964 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2722G>A; p.G908S; 12:77024029-77024029 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |