| Gene ID | 9439 |
| Symbol | MED23 |
| Synonymous | ARC130|CRSP130|CRSP133|CRSP3|DRIP130|MRT18|SUR-2|SUR2 |
| Full name | mediator complex subunit 23 |
| Gene description | 130 kDa transcriptional co-activator|133 kDa transcriptional co-activator|activator-recruited cofactor 130 kDa component|cofactor required for Sp1 transcriptional activation subunit 3|mediator of RNA polymerase II transcription subunit 23|vitamin D3 recep |
| Cytoband | 6q22.33-q24.1 |
| Gene type | protein-coding |
| Synonymous | MIM:605042; HGNC:HGNC:2372; Ensembl:ENSG00000112282; HPRD:05436; Vega:OTTHUMG00000015565 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2737T>C; p.L913L; 6:131596559-131596559 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3169G>A; p.E1057K; 6:131594162-131594162 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.830C>T; p.P277L; 6:131615953-131615953 |
skin | malignant_melanoma | Substitution - Missense |
c.148G>A; p.G50S; 6:131627407-131627407 |
skin | malignant_melanoma | Substitution - Missense |
c.877-9G>T; p.?; 6:131610255-131610255 |
pancreas | other; adenoma | Unknown |
c.3493C>T; p.H1165Y; 6:131591506-131591506 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.701C>T; p.S234L; 6:131618486-131618486 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.701C>T; p.S234L; 6:131618486-131618486 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1104C>G; p.G368G; 6:131608045-131608045 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2258G>A; p.R753H; 6:131598724-131598724 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4078G>A; p.V1360M; 6:131587708-131587708 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.4054T>C; p.S1352P; 6:131587732-131587732 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.191T>C; p.V64A; 6:131624958-131624958 |
oesophagus | carcinoma | Substitution - Missense |
c.3982C>T; p.R1328C; 6:131587804-131587804 |
skin | malignant_melanoma | Substitution - Missense |
c.3048G>C; p.L1016L; 6:131594283-131594283 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3982C>T; p.R1328C; 6:131587804-131587804 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.208C>T; p.Q70*; 6:131624941-131624941 |
breast | carcinoma | Substitution - Nonsense |
c.1833G>A; p.R611R; 6:131603128-131603128 |
skin | malignant_melanoma | Substitution - coding silent |
c.2914C>A; p.H972N; 6:131596028-131596028 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3667C>A; p.Q1223K; 6:131591332-131591332 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3667C>A; p.Q1223K; 6:131591332-131591332 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3341C>T; p.A1114V; 6:131593063-131593063 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3623C>T; p.T1208M; 6:131591376-131591376 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3623C>T; p.T1208M; 6:131591376-131591376 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1446T>G; p.S482S; 6:131605407-131605407 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1623C>T; p.H541H; 6:131604311-131604311 |
pancreas | carcinoma | Substitution - coding silent |
c.2032G>A; p.A678T; 6:131602281-131602281 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1935C>T; p.V645V; 6:131602378-131602378 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1715T>A; p.V572D; 6:131604219-131604219 |
breast | carcinoma | Substitution - Missense |
c.489A>G; p.A163A; 6:131621887-131621887 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3971C>T; p.A1324V; 6:131587815-131587815 |
liver | carcinoma | Substitution - Missense |
c.1794G>T; p.W598C; 6:131603167-131603167 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1794G>T; p.W598C; 6:131603167-131603167 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1361A>G; p.H454R; 6:131606485-131606485 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.660C>T; p.S220S; 6:131619834-131619834 |
skin | malignant_melanoma | Substitution - coding silent |
c.1231G>T; p.V411F; 6:131606615-131606615 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.709A>G; p.I237V; 6:131618478-131618478 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2617_2619delAGT; p.S873delS; 6:131596677-131596679 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Deletion - In frame |
c.1142C>T; p.S381F; 6:131608007-131608007 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.162G>A; p.E54E; 6:131624987-131624987 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.481C>T; p.L161L; 6:131621895-131621895 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1333A>T; p.I445F; 6:131606513-131606513 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1573A>G; p.M525V; 6:131605280-131605280 |
thyroid | carcinoma | Substitution - Missense |
c.1924C>T; p.H642Y; 6:131603037-131603037 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1350C>T; p.S450S; 6:131606496-131606496 |
skin | malignant_melanoma | Substitution - coding silent |
c.3794G>A; p.R1265H; 6:131590335-131590335 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.745C>T; p.R249C; 6:131618442-131618442 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.794delC; p.P265fs*6; 6:131615989-131615989 |
breast | carcinoma | Deletion - Frameshift |
c.2769T>G; p.N923K; 6:131596527-131596527 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1705C>T; p.R569C; 6:131604229-131604229 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3561A>G; p.P1187P; 6:131591438-131591438 |
parathyroid | adenoma | Substitution - coding silent |
c.1809_1810delAC; p.L604fs*2; 6:131603151-131603152 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.233T>A; p.F78Y; 6:131624916-131624916 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2615G>A; p.R872H; 6:131596681-131596681 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.876+10T>C; p.?; 6:131615897-131615897 |
liver | carcinoma | Unknown |
c.876+10T>C; p.?; 6:131615897-131615897 |
liver | carcinoma | Unknown |
c.598-4T>G; p.?; 6:131619900-131619900 |
skin; head_neck | malignant_melanoma; superficial_spreading | Unknown |
c.2779-1G>C; p.?; 6:131596164-131596164 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.987C>A; p.L329L; 6:131610136-131610136 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1850C>A; p.P617H; 6:131603111-131603111 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1020C>A; p.F340L; 6:131610103-131610103 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.3267C>A; p.N1089K; 6:131593137-131593137 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.230C>A; p.S77Y; 6:131624919-131624919 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.230C>A; p.S77Y; 6:131624919-131624919 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3328G>A; p.V1110M; 6:131593076-131593076 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1869C>T; p.L623L; 6:131603092-131603092 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1727T>C; p.I576T; 6:131604207-131604207 |
liver | carcinoma | Substitution - Missense |
c.1849C>T; p.P617S; 6:131603112-131603112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.704G>T; p.G235V; 6:131618483-131618483 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3312T>C; p.A1104A; 6:131593092-131593092 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.2080_2081insC; p.T695fs*11; 6:131602232-131602233 |
breast | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.2849C>T; p.P950L; 6:131596093-131596093 |
skin | malignant_melanoma | Substitution - Missense |
c.3361G>T; p.E1121*; 6:131593043-131593043 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2481A>C; p.A827A; 6:131598413-131598413 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1437T>C; p.N479N; 6:131605416-131605416 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3743T>C; p.V1248A; 6:131590386-131590386 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4042A>G; p.M1348V; 6:131587744-131587744 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4080G>T; p.V1360V; 6:131587706-131587706 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3892C>T; p.L1298F; 6:131589512-131589512 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.342T>C; p.L114L; 6:131623405-131623405 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3336C>A; p.L1112L; 6:131593068-131593068 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3566G>A; p.R1189H; 6:131591433-131591433 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3801G>A; p.M1267I; 6:131590328-131590328 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.3510T>C; p.S1170S; 6:131591489-131591489 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3801G>A; p.M1267I; 6:131590328-131590328 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2898A>G; p.V966V; 6:131596044-131596044 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2783A>G; p.Y928C; 6:131596159-131596159 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2996-2A>G; p.?; 6:131594337-131594337 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.2237delA; p.N746fs*11; 6:131598745-131598745 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2237delA; p.N746fs*11; 6:131598745-131598745 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2237delA; p.N746fs*11; 6:131598745-131598745 |
oesophagus | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.940C>T; p.R314*; 6:131610183-131610183 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.403C>T; p.R135*; 6:131621973-131621973 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.367C>T; p.R123W; 6:131623380-131623380 |
skin | malignant_melanoma | Substitution - Missense |
c.367C>T; p.R123W; 6:131623380-131623380 |
skin | malignant_melanoma | Substitution - Missense |
c.3724G>A; p.E1242K; 6:131590405-131590405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1213G>T; p.E405*; 6:131607936-131607936 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.318T>C; p.T106T; 6:131623429-131623429 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3869A>G; p.Y1290C; 6:131589535-131589535 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.323_324insG; p.W109fs*12; 6:131623423-131623424 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Insertion - Frameshift |
c.2781A>C; p.K927N; 6:131596161-131596161 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3869A>G; p.Y1290C; 6:131589535-131589535 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276_2277insA; p.N759fs*7; 6:131598705-131598706 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2323G>A; p.D775N; 6:131598659-131598659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276_2277insA; p.N759fs*7; 6:131598705-131598706 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2276_2277insA; p.N759fs*7; 6:131598705-131598706 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.435T>G; p.I145M; 6:131621941-131621941 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3472-1G>T; p.?; 6:131591528-131591528 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2599C>A; p.L867I; 6:131598295-131598295 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2827C>T; p.P943S; 6:131596115-131596115 |
prostate | carcinoma | Substitution - Missense |
c.1325A>C; p.K442T; 6:131606521-131606521 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1325A>C; p.K442T; 6:131606521-131606521 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1320C>T; p.N440N; 6:131606526-131606526 |
skin | malignant_melanoma | Substitution - coding silent |
c.444T>G; p.I148M; 6:131621932-131621932 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2257C>T; p.R753C; 6:131598725-131598725 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1613G>C; p.S538T; 6:131605240-131605240 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3071G>A; p.R1024Q; 6:131594260-131594260 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1634C>T; p.T545I; 6:131604300-131604300 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>T; p.K132N; 6:131623351-131623351 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1958_1959delTA; p.I653fs*5; 6:131602354-131602355 |
breast | carcinoma | Deletion - Frameshift |
c.2683G>A; p.D895N; 6:131596613-131596613 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1718A>G; p.Y573C; 6:131604216-131604216 |
breast | carcinoma | Substitution - Missense |
c.510C>G; p.I170M; 6:131620715-131620715 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1718A>G; p.Y573C; 6:131604216-131604216 |
breast | carcinoma | Substitution - Missense |
c.1480G>A; p.A494T; 6:131605373-131605373 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.72-3delT; p.?; 6:131627486-131627486 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Unknown |
c.529T>A; p.L177I; 6:131620696-131620696 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2766G>T; p.M922I; 6:131596530-131596530 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2198G>A; p.S733N; 6:131600060-131600060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3374C>T; p.A1125V; 6:131593030-131593030 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1198G>A; p.D400N; 6:131607951-131607951 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.454G>T; p.V152L; 6:131621922-131621922 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1198G>A; p.D400N; 6:131607951-131607951 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.3291T>A; p.F1097L; 6:131593113-131593113 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.347C>T; p.A116V; 6:131623400-131623400 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2529C>T; p.L843L; 6:131598365-131598365 |
breast | carcinoma | Substitution - coding silent |
c.470T>C; p.V157A; 6:131621906-131621906 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3364G>T; p.V1122F; 6:131593040-131593040 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2261T>G; p.F754C; 6:131598721-131598721 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.3223C>T; p.L1075L; 6:131594108-131594108 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3324T>A; p.T1108T; 6:131593080-131593080 |
kidney | carcinoma | Substitution - coding silent |
c.2149C>T; p.Q717*; 6:131600109-131600109 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.2149C>T; p.Q717*; 6:131600109-131600109 |
breast | carcinoma | Substitution - Nonsense |
c.2149C>T; p.Q717*; 6:131600109-131600109 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.2276delA; p.N759fs*12; 6:131598706-131598706 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3574G>A; p.D1192N; 6:131591425-131591425 |
skin | malignant_melanoma | Substitution - Missense |
c.2942C>T; p.S981F; 6:131596000-131596000 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1976C>A; p.S659*; 6:131602337-131602337 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.836C>G; p.S279C; 6:131615947-131615947 |
breast | carcinoma | Substitution - Missense |
c.46G>T; p.E16*; 6:131627666-131627666 |
breast | carcinoma | Substitution - Nonsense |
c.417A>C; p.K139N; 6:131621959-131621959 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408A>C; p.N470H; 6:131605445-131605445 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2614C>T; p.R872C; 6:131596682-131596682 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.4063C>T; p.P1355S; 6:131587723-131587723 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.898C>T; p.L300L; 6:131610225-131610225 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2614C>T; p.R872C; 6:131596682-131596682 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2614C>T; p.R872C; 6:131596682-131596682 |
stomach | adenocarcinoma | Substitution - Missense |
c.3707_3709delTTC; p.L1236delL; 6:131590420-131590422 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.3707_3709delTTC; p.L1236delL; 6:131590420-131590422 |
large_intestine | carcinoma; adenocarcinoma | Deletion - In frame |
c.3767delT; p.L1256fs*12; 6:131590362-131590362 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1098T>C; p.I366I; 6:131608051-131608051 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.987C>T; p.L329L; 6:131610136-131610136 |
skin | malignant_melanoma | Substitution - coding silent |
c.2078G>C; p.R693T; 6:131602235-131602235 |
NS | NS | Substitution - Missense |
c.3637delC; p.H1213fs*26; 6:131591362-131591362 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.508A>C; p.I170L; 6:131620717-131620717 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2280G>T; p.V760V; 6:131598702-131598702 |
thyroid | other; neoplasm | Substitution - coding silent |
c.3788G>T; p.R1263I; 6:131590341-131590341 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1836G>T; p.M612I; 6:131603125-131603125 |
central_nervous_system; medulla | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1597G>T; p.V533F; 6:131605256-131605256 |
breast | carcinoma | Substitution - Missense |
c.136C>T; p.Q46*; 6:131627419-131627419 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.147T>G; p.G49G; 6:131627408-131627408 |
breast | carcinoma | Substitution - coding silent |
c.1729G>C; p.E577Q; 6:131604205-131604205 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.1712T>C; p.L571S; 6:131604222-131604222 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3574G>T; p.D1192Y; 6:131591425-131591425 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2688delT; p.F896fs*5; 6:131596608-131596608 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1349C>T; p.S450F; 6:131606497-131606497 |
skin | malignant_melanoma | Substitution - Missense |
c.3112C>T; p.R1038*; 6:131594219-131594219 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3557A>T; p.Y1186F; 6:131591442-131591442 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3702A>C; p.V1234V; 6:131590427-131590427 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.133A>G; p.R45G; 6:131627422-131627422 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2171C>A; p.P724H; 6:131600087-131600087 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3276_3288del13; p.W1092fs*32; 6:131593116-131593128 |
breast | carcinoma | Deletion - Frameshift |
c.1058T>C; p.V353A; 6:131610065-131610065 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3818C>T; p.A1273V; 6:131589586-131589586 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2853T>C; p.Y951Y; 6:131596089-131596089 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.843T>C; p.D281D; 6:131615940-131615940 |
skin | malignant_melanoma | Substitution - coding silent |
c.3988C>T; p.R1330*; 6:131587798-131587798 |
breast | carcinoma | Substitution - Nonsense |
c.871A>G; p.K291E; 6:131615912-131615912 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3459C>A; p.I1153I; 6:131592400-131592400 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1156_1168del13; p.K386fs*6; 6:131607981-131607993 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Deletion - Frameshift |
c.3667C>T; p.Q1223*; 6:131591332-131591332 |
breast | carcinoma | Substitution - Nonsense |
c.3499C>T; p.R1167*; 6:131591500-131591500 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3499C>T; p.R1167*; 6:131591500-131591500 |
breast | carcinoma | Substitution - Nonsense |
c.2364C>G; p.L788L; 6:131598618-131598618 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1360C>T; p.H454Y; 6:131606486-131606486 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.781-1G>T; p.?; 6:131616003-131616003 |
lung | carcinoma; adenocarcinoma | Unknown |
c.313G>T; p.D105Y; 6:131623434-131623434 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.299C>T; p.S100F; 6:131623448-131623448 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1646A>C; p.K549T; 6:131604288-131604288 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3284A>G; p.N1095S; 6:131593120-131593120 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.453A>T; p.T151T; 6:131621923-131621923 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3397delA; p.S1133fs*4; 6:131593007-131593007 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |