| Gene ID | 29102 |
| Symbol | DROSHA |
| Synonymous | ETOHI2|HSA242976|RANSE3L|RN3|RNASE3L|RNASEN |
| Full name | drosha, ribonuclease type III |
| Gene description | RNase III|drosha, double-stranded RNA-specific endoribonuclease|nuclear RNase III Drosha|p241|protein Drosha|putative protein p241 which interacts with transcription factor Sp1|putative ribonuclease III|ribonuclease 3|ribonuclease III, nuclear|ribonucleas |
| Cytoband | 5p13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:608828; HGNC:HGNC:17904; Ensembl:ENSG00000113360; HPRD:10196; Vega:OTTHUMG00000161976 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2401C>T; p.R801C; 5:31466247-31466247 |
skin | malignant_melanoma | Substitution - Missense |
c.2020_2021CC>AT; p.P674I; 5:31483604-31483605 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.219T>C; p.P73P; 5:31526714-31526714 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3223C>T; p.R1075C; 5:31424465-31424465 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.28A>G; p.M10V; 5:31526905-31526905 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.300G>A; p.P100P; 5:31526633-31526633 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |
c.337G>T; p.V113F; 5:31526596-31526596 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2410C>T; p.L804L; 5:31466238-31466238 |
skin | malignant_melanoma | Substitution - coding silent |
c.3439G>A; p.E1147K; 5:31421358-31421358 |
kidney | Wilms_tumour | Substitution - Missense |
c.3439G>A; p.E1147K; 5:31421358-31421358 |
kidney | Wilms_tumour | Substitution - Missense |
c.1290+1G>A; p.?; 5:31514987-31514987 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.835C>T; p.R279C; 5:31526098-31526098 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.396C>T; p.V132V; 5:31526537-31526537 |
skin | malignant_melanoma | Substitution - coding silent |
c.396C>T; p.V132V; 5:31526537-31526537 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.835C>T; p.R279C; 5:31526098-31526098 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1782C>T; p.Y594Y; 5:31493267-31493267 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.4070G>T; p.W1357L; 5:31401487-31401487 |
breast | carcinoma | Substitution - Missense |
c.1146G>C; p.K382N; 5:31515132-31515132 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1782C>T; p.Y594Y; 5:31493267-31493267 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2985A>T; p.G995G; 5:31435822-31435822 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3511G>A; p.E1171K; 5:31421286-31421286 |
liver | carcinoma | Substitution - Missense |
c.3511G>A; p.E1171K; 5:31421286-31421286 |
liver | carcinoma | Substitution - Missense |
c.2668C>T; p.R890C; 5:31451547-31451547 |
NS | malignant_melanoma | Substitution - Missense |
c.2668C>T; p.R890C; 5:31451547-31451547 |
NS | malignant_melanoma | Substitution - Missense |
c.2668C>T; p.R890C; 5:31451547-31451547 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1102G>T; p.E368*; 5:31515176-31515176 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1617C>T; p.S539S; 5:31504606-31504606 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3681G>T; p.A1227A; 5:31409319-31409319 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1617C>T; p.S539S; 5:31504606-31504606 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1357G>T; p.G453W; 5:31511110-31511110 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2674C>T; p.L892L; 5:31451541-31451541 |
skin | malignant_melanoma | Substitution - coding silent |
c.3940G>C; p.G1314R; 5:31406860-31406860 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1393C>T; p.P465S; 5:31511074-31511074 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1040_1041CC>TT; p.P347L; 5:31515471-31515472 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.3451G>T; p.D1151Y; 5:31421346-31421346 |
kidney | Wilms_tumour | Substitution - Missense |
c.1953C>A; p.F651L; 5:31484924-31484924 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3370C>T; p.L1124L; 5:31422836-31422836 |
skin | malignant_melanoma | Substitution - coding silent |
c.2308C>T; p.P770S; 5:31467997-31467997 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1910C>G; p.P637R; 5:31486495-31486495 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.104G>T; p.R35M; 5:31526829-31526829 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.572C>A; p.S191Y; 5:31526361-31526361 |
NS | malignant_melanoma | Substitution - Missense |
c.572C>A; p.S191Y; 5:31526361-31526361 |
NS | malignant_melanoma | Substitution - Missense |
c.3633G>A; p.A1211A; 5:31410780-31410780 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1298C>A; p.S433Y; 5:31511169-31511169 |
thyroid | other; neoplasm | Substitution - Missense |
c.457C>T; p.H153Y; 5:31526476-31526476 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1314G>A; p.T438T; 5:31511153-31511153 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.970C>T; p.P324S; 5:31515542-31515542 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.4037_4038GG>AA; p.R1346Q; 5:31401519-31401520 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3080G>T; p.G1027V; 5:31431641-31431641 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.642G>C; p.K214N; 5:31526291-31526291 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1362C>T; p.S454S; 5:31511105-31511105 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1922G>C; p.C641S; 5:31484955-31484955 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.199C>T; p.P67S; 5:31526734-31526734 |
breast | carcinoma | Substitution - Missense |
c.1450G>A; p.E484K; 5:31508758-31508758 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2319C>T; p.V773V; 5:31467986-31467986 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3032_3033insT; p.M1011fs*7; 5:31435774-31435775 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.936G>A; p.K312K; 5:31521134-31521134 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2283G>T; p.Q761H; 5:31468022-31468022 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3361G>T; p.V1121F; 5:31422845-31422845 |
skin | malignant_melanoma | Substitution - Missense |
c.3637C>T; p.R1213C; 5:31410776-31410776 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3509A>G; p.H1170R; 5:31421288-31421288 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3197G>A; p.R1066H; 5:31429494-31429494 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.223C>T; p.R75*; 5:31526710-31526710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3197G>A; p.R1066H; 5:31429494-31429494 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3062T>G; p.F1021C; 5:31431659-31431659 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1060C>T; p.R354C; 5:31515218-31515218 |
skin | malignant_melanoma | Substitution - Missense |
c.3835C>A; p.P1279T; 5:31409075-31409075 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3835C>A; p.P1279T; 5:31409075-31409075 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3835C>A; p.P1279T; 5:31409075-31409075 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1834delC; p.L612fs*1; 5:31493215-31493215 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2789G>C; p.R930T; 5:31449313-31449313 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.3572C>T; p.A1191V; 5:31410841-31410841 |
oesophagus | carcinoma | Substitution - Missense |
c.154C>T; p.Q52*; 5:31526779-31526779 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2502_2503GA>AT; p.M834_R835>I*; 5:31464307-31464308 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Complex - compound substitution |
c.1631G>A; p.R544H; 5:31504592-31504592 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1206G>A; p.E402E; 5:31515072-31515072 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.224G>A; p.R75Q; 5:31526709-31526709 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.224G>A; p.R75Q; 5:31526709-31526709 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3646A>T; p.T1216S; 5:31410767-31410767 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3007A>G; p.I1003V; 5:31435800-31435800 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1287G>A; p.Q429Q; 5:31514991-31514991 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.110A>C; p.Q37P; 5:31526823-31526823 |
breast | carcinoma | Substitution - Missense |
c.3635T>G; p.L1212R; 5:31410778-31410778 |
liver | carcinoma | Substitution - Missense |
c.248C>T; p.P83L; 5:31526685-31526685 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3635T>G; p.L1212R; 5:31410778-31410778 |
liver | carcinoma | Substitution - Missense |
c.1146G>T; p.K382N; 5:31515132-31515132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1825C>T; p.H609Y; 5:31493224-31493224 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2107C>A; p.L703I; 5:31472197-31472197 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2835G>A; p.L945L; 5:31448594-31448594 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.444T>C; p.P148P; 5:31526489-31526489 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.719G>A; p.R240Q; 5:31526214-31526214 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2782G>A; p.G928R; 5:31449320-31449320 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.379C>T; p.P127S; 5:31526554-31526554 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2511A>G; p.E837E; 5:31464299-31464299 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3715A>T; p.T1239S; 5:31409285-31409285 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2612G>A; p.R871H; 5:31451603-31451603 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4032C>T; p.I1344I; 5:31401525-31401525 |
skin | malignant_melanoma | Substitution - coding silent |
c.2551G>C; p.G851R; 5:31464259-31464259 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1241G>A; p.R414Q; 5:31515037-31515037 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.445C>T; p.P149S; 5:31526488-31526488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1834_1835insC; p.L612fs*8; 5:31493214-31493215 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.248delC; p.P83fs*25; 5:31526685-31526685 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.3648C>T; p.T1216T; 5:31410765-31410765 |
skin | malignant_melanoma | Substitution - coding silent |
c.737C>T; p.S246F; 5:31526196-31526196 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.646C>G; p.P216A; 5:31526287-31526287 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.3564C>A; p.A1188A; 5:31410849-31410849 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.363A>G; p.P121P; 5:31526570-31526570 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2482delA; p.I828fs*7; 5:31464328-31464328 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3151G>A; p.V1051I; 5:31429540-31429540 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1090C>T; p.R364C; 5:31515188-31515188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3819G>A; p.R1273R; 5:31409091-31409091 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2065C>A; p.L689I; 5:31483560-31483560 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.164C>T; p.P55L; 5:31526769-31526769 |
skin | malignant_melanoma | Substitution - Missense |
c.427C>T; p.P143S; 5:31526506-31526506 |
skin | malignant_melanoma | Substitution - Missense |
c.1670C>G; p.A557G; 5:31495371-31495371 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.428C>T; p.P143L; 5:31526505-31526505 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460C>T; p.P154S; 5:31526473-31526473 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.883C>T; p.R295*; 5:31521187-31521187 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3295G>T; p.E1099*; 5:31422911-31422911 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1740G>T; p.P580P; 5:31495301-31495301 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4024C>T; p.R1342W; 5:31401533-31401533 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3080G>A; p.G1027E; 5:31431641-31431641 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.233T>G; p.F78C; 5:31526700-31526700 |
breast | carcinoma | Substitution - Missense |
c.2272G>A; p.D758N; 5:31468033-31468033 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3239A>T; p.N1080I; 5:31424449-31424449 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3268G>T; p.E1090*; 5:31422938-31422938 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2021C>T; p.P674L; 5:31483604-31483604 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.260C>A; p.P87Q; 5:31526673-31526673 |
liver | carcinoma | Substitution - Missense |
c.1161C>G; p.I387M; 5:31515117-31515117 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.663C>T; p.S221S; 5:31526270-31526270 |
skin | malignant_melanoma | Substitution - coding silent |
c.962C>T; p.S321L; 5:31515550-31515550 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1387C>T; p.R463W; 5:31511080-31511080 |
pancreas | carcinoma | Substitution - Missense |
c.907C>T; p.L303L; 5:31521163-31521163 |
skin | malignant_melanoma | Substitution - coding silent |
c.663C>A; p.S221S; 5:31526270-31526270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1690A>G; p.M564V; 5:31495351-31495351 |
pancreas | carcinoma | Substitution - Missense |
c.1028C>A; p.S343Y; 5:31515484-31515484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1028C>A; p.S343Y; 5:31515484-31515484 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1180G>A; p.E394K; 5:31515098-31515098 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2005_2008delTTTG; p.F669fs*17; 5:31483617-31483620 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2257C>T; p.R753C; 5:31468048-31468048 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1400A>T; p.E467V; 5:31511067-31511067 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3971C>G; p.A1324G; 5:31405700-31405700 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2332C>T; p.R778C; 5:31467973-31467973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2332C>T; p.R778C; 5:31467973-31467973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2332C>T; p.R778C; 5:31467973-31467973 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.803A>T; p.D268V; 5:31526130-31526130 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3577G>T; p.E1193*; 5:31410836-31410836 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2574+1G>T; p.?; 5:31464235-31464235 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.294C>G; p.I98M; 5:31526639-31526639 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2796T>C; p.V932V; 5:31449306-31449306 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.701G>T; p.R234L; 5:31526232-31526232 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1709G>T; p.R570I; 5:31495332-31495332 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2156T>C; p.I719T; 5:31472148-31472148 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3453C>A; p.D1151E; 5:31421344-31421344 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.216C>T; p.L72L; 5:31526717-31526717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2028C>T; p.C676C; 5:31483597-31483597 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.914G>C; p.R305T; 5:31521156-31521156 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1298C>G; p.S433C; 5:31511169-31511169 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1529G>A; p.R510H; 5:31508679-31508679 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1587+1G>T; p.?; 5:31508620-31508620 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.854G>T; p.R285I; 5:31526079-31526079 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2512G>T; p.V838L; 5:31464298-31464298 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3881A>T; p.H1294L; 5:31406919-31406919 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.209A>G; p.N70S; 5:31526724-31526724 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3847C>G; p.L1283V; 5:31409063-31409063 |
breast | carcinoma | Substitution - Missense |
c.843C>T; p.Y281Y; 5:31526090-31526090 |
breast | carcinoma | Substitution - coding silent |
c.2316C>T; p.I772I; 5:31467989-31467989 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.62G>A; p.G21E; 5:31526871-31526871 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3284G>A; p.R1095Q; 5:31422922-31422922 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.4051G>C; p.E1351Q; 5:31401506-31401506 |
breast | carcinoma | Substitution - Missense |
c.4030A>G; p.I1344V; 5:31401527-31401527 |
liver | carcinoma | Substitution - Missense |
c.285delC; p.C96fs*12; 5:31526648-31526648 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3306A>G; p.P1102P; 5:31422900-31422900 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.502T>C; p.Y168H; 5:31526431-31526431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2888A>G; p.N963S; 5:31437293-31437293 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.899C>T; p.S300L; 5:31521171-31521171 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.175_176CC>TT; p.P59F; 5:31526757-31526758 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.391C>T; p.P131S; 5:31526542-31526542 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.451A>G; p.M151V; 5:31526482-31526482 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2610C>T; p.I870I; 5:31451605-31451605 |
skin | malignant_melanoma | Substitution - coding silent |
c.1449C>T; p.S483S; 5:31508759-31508759 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.98C>T; p.S33F; 5:31526835-31526835 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.859C>T; p.R287*; 5:31521211-31521211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3653C>T; p.A1218V; 5:31410760-31410760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.321G>A; p.M107I; 5:31526612-31526612 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3554G>T; p.R1185I; 5:31410859-31410859 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1340A>C; p.K447T; 5:31511127-31511127 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.811C>T; p.R271*; 5:31526122-31526122 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2240C>T; p.T747M; 5:31472064-31472064 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2451G>T; p.K817N; 5:31466197-31466197 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2850A>G; p.S950S; 5:31448579-31448579 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2240C>T; p.T747M; 5:31472064-31472064 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3194G>C; p.G1065A; 5:31429497-31429497 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1746G>A; p.T582T; 5:31495295-31495295 |
endometrium | carcinoma; serous_carcinoma | Substitution - coding silent |
c.266C>T; p.A89V; 5:31526667-31526667 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1746G>A; p.T582T; 5:31495295-31495295 |
breast | carcinoma | Substitution - coding silent |
c.4037G>A; p.R1346Q; 5:31401520-31401520 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1412C>T; p.T471M; 5:31511055-31511055 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.518C>G; p.S173C; 5:31526415-31526415 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1165G>A; p.E389K; 5:31515113-31515113 |
skin | malignant_melanoma | Substitution - Missense |
c.1165G>A; p.E389K; 5:31515113-31515113 |
skin | malignant_melanoma | Substitution - Missense |
c.3960G>A; p.A1320A; 5:31405711-31405711 |
skin | malignant_melanoma | Substitution - coding silent |
c.1165G>A; p.E389K; 5:31515113-31515113 |
skin | malignant_melanoma | Substitution - Missense |
c.389C>G; p.P130R; 5:31526544-31526544 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2093C>T; p.S698F; 5:31472211-31472211 |
skin | malignant_melanoma | Substitution - Missense |
c.827C>G; p.S276C; 5:31526106-31526106 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.2277_2278delTG; p.E760fs*47; 5:31468027-31468028 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.257C>A; p.P86H; 5:31526676-31526676 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1090C>A; p.R364S; 5:31515188-31515188 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2162A>G; p.N721S; 5:31472142-31472142 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.927A>G; p.K309K; 5:31521143-31521143 |
liver | carcinoma | Substitution - coding silent |
c.1325G>A; p.R442H; 5:31511142-31511142 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.4025G>A; p.R1342Q; 5:31401532-31401532 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.4025G>A; p.R1342Q; 5:31401532-31401532 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1645C>T; p.H549Y; 5:31504578-31504578 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2786A>T; p.D929V; 5:31449316-31449316 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.927delA; p.E310fs*42; 5:31521143-31521143 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2733T>C; p.D911D; 5:31449369-31449369 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4025G>T; p.R1342L; 5:31401532-31401532 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3505C>A; p.H1169N; 5:31421292-31421292 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1884G>A; p.T628T; 5:31486521-31486521 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.656G>T; p.R219I; 5:31526277-31526277 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.545T>C; p.F182S; 5:31526388-31526388 |
breast | carcinoma | Substitution - Missense |
c.470delC; p.P157fs*69; 5:31526463-31526463 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3624G>A; p.R1208R; 5:31410789-31410789 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.4089G>T; p.E1363D; 5:31401468-31401468 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3542T>C; p.L1181S; 5:31410871-31410871 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2179G>A; p.E727K; 5:31472125-31472125 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.1910C>T; p.P637L; 5:31486495-31486495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3610G>A; p.D1204N; 5:31410803-31410803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2516C>T; p.T839M; 5:31464294-31464294 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.905C>G; p.S302C; 5:31521165-31521165 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2333G>A; p.R778H; 5:31467972-31467972 |
liver | carcinoma | Substitution - Missense |
c.1404T>G; p.P468P; 5:31511063-31511063 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3765T>C; p.N1255N; 5:31409145-31409145 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2333G>A; p.R778H; 5:31467972-31467972 |
liver | carcinoma | Substitution - Missense |
c.1177G>A; p.E393K; 5:31515101-31515101 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2790A>G; p.R930R; 5:31449312-31449312 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3462G>A; p.M1154I; 5:31421335-31421335 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2552G>T; p.G851V; 5:31464258-31464258 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3849G>C; p.L1283L; 5:31409061-31409061 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.3038C>A; p.A1013E; 5:31435769-31435769 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3038C>A; p.A1013E; 5:31435769-31435769 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3038C>A; p.A1013E; 5:31435769-31435769 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.833A>G; p.H278R; 5:31526100-31526100 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3887G>A; p.R1296Q; 5:31406913-31406913 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3875C>T; p.P1292L; 5:31406925-31406925 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2276G>A; p.R759H; 5:31468029-31468029 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2276G>A; p.R759H; 5:31468029-31468029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.911A>C; p.E304A; 5:31521159-31521159 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3823G>T; p.E1275*; 5:31409087-31409087 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1953C>T; p.F651F; 5:31484924-31484924 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.612C>G; p.F204L; 5:31526321-31526321 |
ovary | other; neoplasm | Substitution - Missense |
c.167C>A; p.P56Q; 5:31526766-31526766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |