General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 27316 |
Name | RBMX |
Synonymous | RNA binding motif protein, X-linked;RBMX;RNA binding motif protein, X-linked |
Definition | RNA binding motif protein, X chromosome|RNA-binding motif protein, X chromosome|glycoprotein p43|heterogeneous nuclear ribonucleoprotein G|hnRNP G |
Position | Xq26.3 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.28. |
The copy number variations for various cancers | Top |
There is no record for RBMX |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.124G>T; p.D42Y; 23:136879109-136879109 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1055C>T; p.S352F; 23:136874263-136874263 |
skin | malignant_melanoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; tonsil | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
thyroid | other; neoplasm | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.902C>T; p.P301L; 23:136874416-136874416 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1135G>C; p.G379R; 23:136874183-136874183 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1107C>T; p.R369R; 23:136874211-136874211 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1107C>T; p.R369R; 23:136874211-136874211 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1107C>T; p.R369R; 23:136874211-136874211 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1107C>T; p.R369R; 23:136874211-136874211 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.15T>A; p.D5E; 23:136879413-136879413 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.992G>A; p.R331Q; 23:136874326-136874326 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.992G>A; p.R331Q; 23:136874326-136874326 |
prostate | carcinoma | Substitution - Missense |
c.1_2insAT; p.?; 23:136879426-136879427 |
eye; uveal_tract | malignant_melanoma | Unknown |
c.899C>A; p.P300H; 23:136874419-136874419 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.803G>A; p.R268H; 23:136875148-136875148 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.561A>G; p.R187R; 23:136875566-136875566 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.561A>G; p.R187R; 23:136875566-136875566 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.561A>G; p.R187R; 23:136875566-136875566 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.507A>G; p.G169G; 23:136876537-136876537 |
liver | carcinoma | Substitution - coding silent |
c.507A>G; p.G169G; 23:136876537-136876537 |
liver | carcinoma | Substitution - coding silent |
c.507A>G; p.G169G; 23:136876537-136876537 |
thyroid | other; neoplasm | Substitution - coding silent |
c.507A>G; p.G169G; 23:136876537-136876537 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.507A>G; p.G169G; 23:136876537-136876537 |
liver | carcinoma | Substitution - coding silent |
c.1086T>C; p.D362D; 23:136874232-136874232 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1A>T; p.M1L; 23:136879427-136879427 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.818C>T; p.S273L; 23:136875133-136875133 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105C>T; p.R369C; 23:136874213-136874213 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.290C>T; p.P97L; 23:136878013-136878013 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.890C>T; p.T297I; 23:136874428-136874428 |
liver | carcinoma | Substitution - Missense |
c.37G>T; p.G13C; 23:136879391-136879391 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.890C>T; p.T297I; 23:136874428-136874428 |
liver | carcinoma | Substitution - Missense |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.905_906insCC; p.S303fs*>90; 23:136874412-136874413 |
NS | NS | Insertion - Frameshift |
c.183C>T; p.D61D; 23:136879050-136879050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.758A>T; p.D253V; 23:136875282-136875282 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.624C>T; p.S208S; 23:136875503-136875503 |
skin | malignant_melanoma | Substitution - coding silent |
c.217-3delT; p.?; 23:136878089-136878089 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.617A>C; p.Y206S; 23:136875510-136875510 |
skin; neck | malignant_melanoma | Substitution - Missense |
c.442C>A; p.P148T; 23:136876602-136876602 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; NK-T_cell_lymphoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
pancreas | carcinoma; ductal_carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
liver | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
breast | carcinoma | Insertion - Frameshift |
c.784G>T; p.D262Y; 23:136875167-136875167 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.315_316insTT; p.P106fs*32; 23:136877987-136877988 |
NS | NS | Insertion - Frameshift |
c.311G>A; p.G104D; 23:136877992-136877992 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.586A>G; p.R196G; 23:136875541-136875541 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.66A>C; p.K22N; 23:136879362-136879362 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.376G>A; p.G126R; 23:136877927-136877927 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.97C>T; p.R33*; 23:136879331-136879331 |
kidney | other; neoplasm | Substitution - Nonsense |
c.891A>G; p.T297T; 23:136874427-136874427 |
thyroid | other; neoplasm | Substitution - coding silent |
c.97C>T; p.R33*; 23:136879331-136879331 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1081C>T; p.R361C; 23:136874237-136874237 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.663A>G; p.S221S; 23:136875377-136875377 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.462A>T; p.P154P; 23:136876582-136876582 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.949C>T; p.R317C; 23:136874369-136874369 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.288G>A; p.P96P; 23:136878015-136878015 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.924T>A; p.S308R; 23:136874394-136874394 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
liver | carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1015C>G; p.R339G; 23:136874303-136874303 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.500C>T; p.P167L; 23:136876544-136876544 |
kidney | other; neoplasm | Substitution - Missense |
c.889A>G; p.T297A; 23:136874429-136874429 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.889A>G; p.T297A; 23:136874429-136874429 |
NS | NS | Substitution - Missense |
c.827C>T; p.P276L; 23:136875124-136875124 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.111A>G; p.V37V; 23:136879122-136879122 |
liver | carcinoma | Substitution - coding silent |
c.587G>A; p.R196K; 23:136875540-136875540 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.808C>T; p.R270C; 23:136875143-136875143 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.583C>T; p.R195*; 23:136875544-136875544 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1158A>G; p.G386G; 23:136874160-136874160 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.775G>A; p.G259R; 23:136875265-136875265 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.268G>A; p.E90K; 23:136878035-136878035 |
skin | malignant_melanoma | Substitution - Missense |
c.793G>A; p.G265R; 23:136875158-136875158 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.950G>A; p.R317H; 23:136874368-136874368 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13G>T; p.D5Y; 23:136879415-136879415 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.13G>T; p.D5Y; 23:136879415-136879415 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.13G>T; p.D5Y; 23:136879415-136879415 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1170A>T; p.R390S; 23:136874148-136874148 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
thyroid | other; neoplasm | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
pancreas | other; adenoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1018G>A; p.D340N; 23:136874300-136874300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.27G>C; p.K9N; 23:136879401-136879401 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.605G>A; p.R202H; 23:136875522-136875522 |
breast | carcinoma | Substitution - Missense |
c.382C>T; p.H128Y; 23:136877921-136877921 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.155C>A; p.A52D; 23:136879078-136879078 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
thyroid | other; neoplasm | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
liver | carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.971G>C; p.R324P; 23:136874347-136874347 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.730C>T; p.R244C; 23:136875310-136875310 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.614T>A; p.V205D; 23:136875513-136875513 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
liver | carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
thyroid | other; neoplasm | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
liver | carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.499C>G; p.P167A; 23:136876545-136876545 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.23G>T; p.G8V; 23:136879405-136879405 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.142delT; p.S48fs*22; 23:136879091-136879091 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1014T>C; p.G338G; 23:136874304-136874304 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.642T>A; p.Y214*; 23:136875485-136875485 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.642T>A; p.Y214*; 23:136875485-136875485 |
liver | carcinoma | Substitution - Nonsense |
c.642T>A; p.Y214*; 23:136875485-136875485 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.642T>A; p.Y214*; 23:136875485-136875485 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.642T>A; p.Y214*; 23:136875485-136875485 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.642T>A; p.Y214*; 23:136875485-136875485 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.343G>A; p.G115R; 23:136877960-136877960 |
central_nervous_system; brainstem | glioma; astrocytoma_Grade_II | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
thyroid | other; neoplasm | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
prostate | adenoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
liver | carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
thyroid | other; neoplasm | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.343G>A; p.G115R; 23:136877960-136877960 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.903G>C; p.P301P; 23:136874415-136874415 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.596T>C; p.L199P; 23:136875531-136875531 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.368C>T; p.P123L; 23:136877935-136877935 |
skin | malignant_melanoma | Substitution - Missense |
c.176C>A; p.P59Q; 23:136879057-136879057 |
skin | malignant_melanoma | Substitution - Missense |
c.934G>A; p.D312N; 23:136874384-136874384 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.934G>A; p.D312N; 23:136874384-136874384 |
breast | carcinoma | Substitution - Missense |
c.934G>A; p.D312N; 23:136874384-136874384 |
pancreas | carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
thyroid | other; neoplasm | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1_2insAA; p.?; 23:136879426-136879427 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1_2insAA; p.?; 23:136879426-136879427 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Unknown |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.473G>T; p.G158V; 23:136876571-136876571 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
breast | carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.242T>G; p.V81G; 23:136878061-136878061 |
breast | carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.232G>A; p.A78T; 23:136878071-136878071 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1_2insA; p.?; 23:136879426-136879427 |
breast | carcinoma | Unknown |
c.491G>C; p.R164T; 23:136876553-136876553 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874C>T; p.R292C; 23:136874444-136874444 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1_2insA; p.?; 23:136879426-136879427 |
skin; sole | malignant_melanoma; acral_lentiginous | Unknown |
c.669A>G; p.R223R; 23:136875371-136875371 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.669A>G; p.R223R; 23:136875371-136875371 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1069T>C; p.Y357H; 23:136874249-136874249 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.559A>G; p.R187G; 23:136875568-136875568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1066G>T; p.G356W; 23:136874252-136874252 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1066G>T; p.G356W; 23:136874252-136874252 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.559A>G; p.R187G; 23:136875568-136875568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.559A>G; p.R187G; 23:136875568-136875568 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.559A>G; p.R187G; 23:136875568-136875568 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.570T>C; p.Y190Y; 23:136875557-136875557 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.698A>C; p.D233A; 23:136875342-136875342 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.698A>C; p.D233A; 23:136875342-136875342 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.400T>C; p.Y134H; 23:136876644-136876644 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.181G>C; p.D61H; 23:136879052-136879052 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.1159G>A; p.G387S; 23:136874159-136874159 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.181G>C; p.D61H; 23:136879052-136879052 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.584G>A; p.R195Q; 23:136875543-136875543 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.120G>A; p.M40I; 23:136879113-136879113 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.962G>T; p.G321V; 23:136874356-136874356 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.796T>C; p.Y266H; 23:136875155-136875155 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.374G>T; p.R125L; 23:136877929-136877929 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.515G>A; p.R172H; 23:136876529-136876529 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.906_907insCC; p.S303fs*>90; 23:136874411-136874412 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.180A>G; p.A60A; 23:136879053-136879053 |
breast | carcinoma | Substitution - coding silent |
c.1157delG; p.G386fs*>6; 23:136874161-136874161 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.413T>C; p.F138S; 23:136876631-136876631 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.316_317insTT; p.P106fs*32; 23:136877986-136877987 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.179C>A; p.A60E; 23:136879054-136879054 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.956G>A; p.G319E; 23:136874362-136874362 |
skin | malignant_melanoma | Substitution - Missense |
c.8A>G; p.E3G; 23:136879420-136879420 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.956G>A; p.G319E; 23:136874362-136874362 |
skin | malignant_melanoma | Substitution - Missense |
c.956G>A; p.G319E; 23:136874362-136874362 |
skin | malignant_melanoma | Substitution - Missense |
c.851C>T; p.S284L; 23:136875100-136875100 |
oesophagus | carcinoma | Substitution - Missense |
c.390T>C; p.D130D; 23:136876654-136876654 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
liver | carcinoma | Substitution - Missense |
c.304A>C; p.S102R; 23:136877999-136877999 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
liver | carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.212G>C; p.G71A; 23:136879021-136879021 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1010G>A; p.S337N; 23:136874308-136874308 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.22G>T; p.G8*; 23:136879406-136879406 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.572G>A; p.G191E; 23:136875555-136875555 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |