| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
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|---|---|
Gene ID |
|
Name |
|
Synonymous | ;; |
Definition |
|
Position |
|
Gene Type |
|
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 |
There is no record for |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
There is no record for |
Loss of Function mutations compare to missense mutations | Top |
There is no record for |
| The ratio of the loss-of-function mutations over missense mutations is . |
The copy number variations for various cancers | Top |
There is no record for |
COSMIC somatic mutation [Top] | |||
|
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
|---|---|---|---|
c.340G>C; p.E114Q; 14:104775747-104775747 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1014C>A; p.V338V; 14:104773036-104773036 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.68G>A; p.R23Q; 14:104780195-104780195 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.10G>C; p.V4L; 14:104792634-104792634 |
breast | carcinoma | Substitution - Missense |
c.366G>A; p.S122S; 14:104775721-104775721 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1112C>T; p.T371M; 14:104772938-104772938 |
ovary | other; neoplasm | Substitution - Missense |
c.155T>G; p.L52R; 14:104780108-104780108 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.155T>G; p.L52R; 14:104780108-104780108 |
NS | NS | Substitution - Missense |
c.155T>G; p.L52R; 14:104780108-104780108 |
breast | carcinoma | Substitution - Missense |
c.155T>G; p.L52R; 14:104780108-104780108 |
kidney | other; neoplasm | Substitution - Missense |
c.155T>G; p.L52R; 14:104780108-104780108 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.324C>T; p.D108D; 14:104775763-104775763 |
thyroid | carcinoma | Substitution - coding silent |
c.693C>T; p.N231N; 14:104773921-104773921 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.324C>T; p.D108D; 14:104775763-104775763 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.630C>T; p.L210L; 14:104774941-104774941 |
skin | malignant_melanoma | Substitution - coding silent |
c.205C>A; p.R69R; 14:104776741-104776741 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.103T>C; p.F35L; 14:104780160-104780160 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.432C>T; p.R144R; 14:104775655-104775655 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1009G>A; p.V337M; 14:104773041-104773041 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.432C>T; p.R144R; 14:104775655-104775655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.879C>T; p.F293F; 14:104773329-104773329 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_III | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; upper_leg | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; phalanx | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; ear | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; femur | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; meningothelial | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fibrous_tissue_and_uncertain_o | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; blood_vessel | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; sole | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fibrous_tissue_and_uncertain_o | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; meningothelial | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fibrous_tissue_and_uncertain_o | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; meningothelial | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin | malignant_melanoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin | malignant_melanoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; patella | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; clear_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; anaplastic | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; tibia | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma_in_situ; ductal_carcinoma_in_situ | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin | malignant_melanoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; hand | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; sole | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; groin | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fibrous_tissue_and_uncertain_o | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.458T>C; p.L153P; 14:104775185-104775185 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; caecum | adenoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; patella | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; chest | epidermal_nevus | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; hand | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; axilla | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; axilla | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; upper_leg | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; phalanx | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; chest | epidermal_nevus; linear_verrucous | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; hand | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thymus | thymoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; hand | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; meningothelial | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; sole | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; abdomen | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; Hurthle_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
prostate | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; meningothelial | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin | adnexal_tumour; malignant_adnexal_tumour | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
NS | NS | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
ovary | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; transitional | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; neck | epidermal_nevus; linear_verrucous | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fibrous_tissue_and_uncertain_o | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; tibia | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; face | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; neck | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fat | liposarcoma; myxoid-round_cell | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; face | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; face | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; lip | other; hyperplasia | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; axilla | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
soft_tissue; fat | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ER-PR-positive_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; face | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma; transitional | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; knee | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; hand | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; phalanx | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
bone; phalanx | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; shoulder | epidermal_nevus; linear_verrucous | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
peritoneum; appendix | other; pseudomyxoma_peritonei | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
pancreas | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
prostate | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; knee | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma; lobular_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
breast | carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | adenoma-nodule-goitre | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; papillary_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
thyroid | carcinoma; anaplastic_carcinoma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
meninges | meningioma | Substitution - Missense |
c.49G>A; p.E17K; 14:104780214-104780214 |
skin; foot | Overgrowth_syndrome; Proteus_syndrome | Substitution - Missense |
c.145G>A; p.E49K; 14:104780118-104780118 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1152C>G; p.L384L; 14:104772898-104772898 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.150T>A; p.A50A; 14:104780113-104780113 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1099C>T; p.R367C; 14:104772951-104772951 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.543C>T; p.L181L; 14:104775100-104775100 |
skin | malignant_melanoma | Substitution - coding silent |
c.543C>T; p.L181L; 14:104775100-104775100 |
skin | malignant_melanoma | Substitution - coding silent |
c.1008C>T; p.G336G; 14:104773042-104773042 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.982C>T; p.R328C; 14:104773068-104773068 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.104T>C; p.F35S; 14:104780159-104780159 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.139C>T; p.Q47*; 14:104780124-104780124 |
skin | malignant_melanoma | Substitution - Nonsense |
c.165C>A; p.F55L; 14:104780098-104780098 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1329G>A; p.T443T; 14:104770779-104770779 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1248G>T; p.V416V; 14:104772377-104772377 |
breast | carcinoma | Substitution - coding silent |
c.852G>A; p.K284K; 14:104773356-104773356 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1339A>G; p.I447V; 14:104770769-104770769 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1416C>T; p.F472F; 14:104770368-104770368 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.954C>T; p.P318P; 14:104773254-104773254 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1108C>T; p.R370C; 14:104772942-104772942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.143G>A; p.R48H; 14:104780120-104780120 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.322G>A; p.D108N; 14:104775765-104775765 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.75C>T; p.R25R; 14:104780188-104780188 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.726G>A; p.E242E; 14:104773557-104773557 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1250A>G; p.Y417C; 14:104772375-104772375 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.726G>A; p.E242E; 14:104773557-104773557 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.286C>T; p.R96W; 14:104776660-104776660 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.47-1G>T; p.?; 14:104780217-104780217 |
breast | carcinoma; ductal_carcinoma | Unknown |
c.131A>G; p.D44G; 14:104780132-104780132 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.238T>C; p.W80R; 14:104776708-104776708 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.238T>C; p.W80R; 14:104776708-104776708 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.194C>T; p.T65M; 14:104776752-104776752 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.815A>G; p.Y272C; 14:104773468-104773468 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.632C>T; p.T211I; 14:104774939-104774939 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.968A>G; p.D323G; 14:104773082-104773082 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.968A>G; p.D323G; 14:104773082-104773082 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.917T>C; p.M306T; 14:104773291-104773291 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - Missense |
c.130G>A; p.D44N; 14:104780133-104780133 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.531C>T; p.A177A; 14:104775112-104775112 |
skin | malignant_melanoma | Substitution - coding silent |
c.798G>A; p.S266S; 14:104773485-104773485 |
skin | malignant_melanoma | Substitution - coding silent |
c.661G>A; p.D221N; 14:104773953-104773953 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.870C>G; p.I290M; 14:104773338-104773338 |
ovary | other; neoplasm | Substitution - Missense |
c.870C>G; p.I290M; 14:104773338-104773338 |
ovary | other; neoplasm | Substitution - Missense |
c.1393C>T; p.R465C; 14:104770391-104770391 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.742G>C; p.D248H; 14:104773541-104773541 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.742G>C; p.D248H; 14:104773541-104773541 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.554T>C; p.V185A; 14:104775089-104775089 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.235C>A; p.Q79K; 14:104776711-104776711 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.235C>A; p.Q79K; 14:104776711-104776711 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.235C>A; p.Q79K; 14:104776711-104776711 |
breast | carcinoma | Substitution - Missense |
c.1113G>A; p.T371T; 14:104772937-104772937 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1133C>G; p.S378C; 14:104772917-104772917 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.967G>T; p.D323Y; 14:104773083-104773083 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.360C>T; p.F120F; 14:104775727-104775727 |
skin | malignant_melanoma | Substitution - coding silent |
c.361C>T; p.R121W; 14:104775726-104775726 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.361C>T; p.R121W; 14:104775726-104775726 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.932G>A; p.G311D; 14:104773276-104773276 |
skin | malignant_melanoma | Substitution - Missense |
c.916A>T; p.M306L; 14:104773292-104773292 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.118G>A; p.E40K; 14:104780145-104780145 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1120C>A; p.P374T; 14:104772930-104772930 |
pancreas | carcinoma | Substitution - Missense |
c.388G>A; p.G130R; 14:104775699-104775699 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.666C>T; p.R222R; 14:104773948-104773948 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.745C>T; p.R249W; 14:104773538-104773538 |
ovary | other; neoplasm | Substitution - Missense |
c.152C>T; p.P51L; 14:104780111-104780111 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.399G>C; p.E133D; 14:104775688-104775688 |
thyroid | carcinoma | Substitution - Missense |
c.438C>A; p.T146T; 14:104775205-104775205 |
stomach | adenocarcinoma | Substitution - coding silent |