| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2956 |
Name | MSH6 |
Synonymous | GTBP|HNPCC5|HSAP;mutS homolog 6 (E. coli);MSH6;mutS homolog 6 (E. coli) |
Definition | DNA mismatch repair protein Msh6|G/T mismatch-binding protein|GTMBP|hMSH6|mutS-alpha 160 kDa subunit|p160|sperm-associated protein |
Position | 2p16 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
MSH6_V210_E3splice_region; chr2; 48023211 |
SUB; SPLICE_REGION; C; T/T; GERMLINE | HYPO; PUTATIVE-HQ; WGS |
PCGP somatic mutation [Top] | ||
There is no record for MSH6 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2867A>G; p.E956G; |
large_intestine | carcinoma; adenocarcinoma |
c.2764C>T; p.R922*; |
large_intestine | carcinoma; adenocarcinoma |
c.3146C>T; p.S1049F; |
breast | carcinoma; HER-positive_carcinoma |
c.1490G>C; p.R497T; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3168G>A; p.V1056V; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3581_3582insT; p.L1194fs*3; 2:47886285-47886286 |
large_intestine | carcinoma; adenocarcinoma |
c.741delA; p.K247fs*32; 2:47879367-47879367 |
stomach | carcinoma; adenocarcinoma |
c.741delA; p.K247fs*32; 2:47879367-47879367 |
stomach | carcinoma; adenocarcinoma |
c.741delA; p.K247fs*32; 2:47879367-47879367 |
stomach | carcinoma; adenocarcinoma |
c.2815C>T; p.Q939*; 2:47881441-47881441 |
skin | malignant_melanoma |
c.3023C>T; p.T1008I; 2:47881649-47881649 |
skin | malignant_melanoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.773T>C; p.I258T; 2:47879399-47879399 |
lung | carcinoma; adenocarcinoma |
c.3101G>A; p.R1034Q; 2:47881727-47881727 |
lung | carcinoma; adenocarcinoma |
c.1852C>T; p.Q618*; 2:47880478-47880478 |
lung | carcinoma; adenocarcinoma |
c.589G>C; p.D197H; 2:47876668-47876668 |
lung | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.W456*; |
ovary | carcinoma; clear_cell_carcinoma |
c.3172+1G>T; p.?; |
ovary | carcinoma; clear_cell_carcinoma |
c.?; p.K1358fs*2; |
ovary | carcinoma; serous_carcinoma |
c.?; p.G971E; |
central_nervous_system; brain | glioma |
c.?; p.E201Q; |
central_nervous_system; brain | glioma |
c.?; p.G932D; |
central_nervous_system; brain | glioma |
c.?; p.E487D; |
central_nervous_system; brain | glioma |
c.?; p.T1189T; |
central_nervous_system; brain | glioma |
c.?; p.A1151V; |
central_nervous_system; brain | glioma |
c.?; p.W365*; |
central_nervous_system; brain | glioma |
c.?; p.S532A; |
central_nervous_system; brain | glioma |
c.?; p.K247I; |
central_nervous_system; brain | glioma |
c.?; p.Y214Y; |
central_nervous_system; brain | glioma |
c.?; p.L109V; |
central_nervous_system; brain | glioma |
c.?; p.R58S; |
central_nervous_system; brain | glioma |
c.?; p.Q835*; |
central_nervous_system; brain | glioma |
c.3227G>A; p.R1076H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1730G>A; p.R577H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2882G>T; p.R961I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2009G>T; p.G670V; |
lung | carcinoma; adenocarcinoma |
c.1646C>T; p.S549F; |
lung | carcinoma; adenocarcinoma |
c.747G>A; p.R249R; 2:47879373-47879373 |
urinary_tract | carcinoma; transitional_cell_carcinoma |
c.944C>T; p.S315F; 2:47879570-47879570 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.1170T>C; p.D390D; 2:47879796-47879796 |
urinary_tract | carcinoma; transitional_cell_carcinoma |
c.1190A>G; p.Y397C; 2:47879816-47879816 |
urinary_tract; renal_pelvis | carcinoma; transitional_cell_carcinoma |
c.1526T>C; p.V509A; 2:47880152-47880152 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.423C>A; p.G141G; 2:47871732-47871732 |
endometrium | carcinoma |
c.593A>C; p.E198A; 2:47876672-47876672 |
endometrium | carcinoma |
c.2836G>T; p.E946*; 2:47881462-47881462 |
endometrium | carcinoma |
c.1421T>C; p.V474A; 2:47880047-47880047 |
endometrium | carcinoma |
c.1438G>T; p.V480L; 2:47880064-47880064 |
endometrium | carcinoma |
c.2410A>T; p.K804*; 2:47881036-47881036 |
endometrium | carcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; tubular_adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; mucinous_adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; tubular_adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; diffuse_adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.1723G>T; p.D575Y; 2:47880349-47880349 |
endometrium | carcinoma; adenocarcinoma |
c.4075G>T; p.E1359*; 2:47887495-47887495 |
endometrium | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
endometrium | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
endometrium | carcinoma; adenocarcinoma |
c.1168G>A; p.D390N; 2:47879794-47879794 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
large_intestine | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3261_3262insCC; p.F1088fs*3; 2:47884151-47884152 |
stomach | carcinoma; adenocarcinoma |
c.3656C>T; p.T1219I; 2:47886856-47886856 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4000C>T; p.R1334W; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.1628A>G; p.K543R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3200G>T; p.S1067I; |
prostate | carcinoma; adenocarcinoma |
c.4070T>A; p.I1357N; |
oesophagus | carcinoma; adenocarcinoma |
c.1072G>A; p.D358N; |
oesophagus | carcinoma; adenocarcinoma |
c.3205delG; p.G1070fs*9; |
oesophagus | carcinoma; adenocarcinoma |
c.1629A>G; p.K543K; |
liver | carcinoma; hepatocellular_carcinoma |
c.3425C>T; p.T1142M; |
liver | carcinoma |
c.876C>G; p.S292R; |
liver | carcinoma |
c.3566C>T; p.T1189I; |
large_intestine; colon | carcinoma |
c.868delC; p.L290fs*1; 2:47879494-47879494 |
large_intestine; colon | carcinoma |
c.941G>T; p.S314I; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.2436A>G; p.L812L; |
liver | carcinoma |
c.3415G>T; p.G1139C; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.3246G>T; p.P1082P; 2:47884136-47884136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.1483C>T; p.R495*; 2:47880109-47880109 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2309G>T; p.G770V; 2:47880935-47880935 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.3261_3262insC; p.F1088fs*5; 2:47884151-47884152 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.3261delC; p.F1088fs*2; 2:47884151-47884151 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.1721C>G; p.S574*; |
lung | carcinoma; adenocarcinoma |
c.2041C>T; p.L681F; |
lung | carcinoma; adenocarcinoma |
c.697C>T; p.P233S; |
lung | carcinoma; adenocarcinoma |
c.3467T>A; p.M1156K; |
lung | carcinoma; adenocarcinoma |
c.962C>G; p.S321*; |
lung | carcinoma; adenocarcinoma |
c.3611C>A; p.A1204E; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.1932G>C; p.R644S; 2:47880558-47880558 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.124C>T; p.P42S; 2:47864000-47864000 |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.2270C>T; p.T757I; |
skin; trunk | malignant_melanoma |
c.1370C>T; p.A457V; |
skin; trunk | malignant_melanoma |
c.718C>T; p.R240*; |
skin; extremity | malignant_melanoma |
c.2815C>T; p.Q939*; 2:47881441-47881441 |
skin | malignant_melanoma |
c.3023C>T; p.T1008I; 2:47881649-47881649 |
skin | malignant_melanoma |
c.1868C>T; p.P623L; 2:47880494-47880494 |
skin | malignant_melanoma |
c.3656C>T; p.T1219I; 2:47886856-47886856 |
skin | malignant_melanoma |
c.1870G>A; p.G624S; |
stomach | carcinoma |
c.1079G>A; p.S360N; |
central_nervous_system; brain | glioma; oligodendroglioma_Grade_III |
c.1453C>T; p.Q485*; 2:47880079-47880079 |
central_nervous_system; brain | glioma |
c.3907G>A; p.A1303T; 2:47887200-47887200 |
central_nervous_system; brain | glioma |
c.3495C>T; p.C1165C; 2:47885609-47885609 |
central_nervous_system; brain | glioma |
c.2425delG; p.V809fs*1; 2:47881051-47881051 |
central_nervous_system; brain | glioma |
c.3852G>A; p.T1284T; |
bone | chondrosarcoma |
c.1246_1247insT; p.K417fs*1; |
prostate | carcinoma |
c.3876A>G; p.G1292G; |
liver | carcinoma |
c.3253_3254insC; p.F1088fs*5; |
lung | carcinoma; small_cell_carcinoma |
c.2678T>A; p.L893Q; |
lung | carcinoma; small_cell_carcinoma |
c.264T>G; p.C88W; |
lung | carcinoma; small_cell_carcinoma |
c.1855G>T; p.E619*; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3246G>T; p.P1082P; 2:47884136-47884136 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm |
c.?; p.P1087fs*5; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.V509A; |
lung | carcinoma; non_small_cell_carcinoma |
c.342C>A; p.P114P; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2178C>A; p.F726L; |
autonomic_ganglia | neuroblastoma |
c.3070C>T; p.R1024W; 2:47881696-47881696 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3656C>T; p.T1219I; 2:47886856-47886856 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.3166G>A; p.V1056M; 2:47881792-47881792 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.27C>T; p.S9S; 2:47863903-47863903 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1450G>A; p.E484K; 2:47880076-47880076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2734T>C; p.W912R; |
lung | carcinoma; adenocarcinoma |
c.2272C>T; p.L758L; 2:47880898-47880898 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.2386G>A; p.E796K; |
ovary | carcinoma; serous_carcinoma |
c.2386G>A; p.E796K; |
ovary | carcinoma; serous_carcinoma |
c.2303C>A; p.P768H; |
lung | carcinoma; squamous_cell_carcinoma |
c.3132C>G; p.Y1044*; 2:47881758-47881758 |
ovary | carcinoma; serous_carcinoma |
c.1265A>G; p.D422G; |
lung | carcinoma; adenocarcinoma |
c.3610G>C; p.A1204P; |
lung | carcinoma; adenocarcinoma |
c.1011G>A; p.L337L; |
lung | carcinoma; squamous_cell_carcinoma |
c.1844G>T; p.C615F; |
lung | carcinoma; adenocarcinoma |
c.2065T>G; p.F689V; |
lung | carcinoma; squamous_cell_carcinoma |
c.457+1G>T; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.2346C>G; p.L782L; |
ovary | carcinoma; serous_carcinoma |
c.3720A>G; p.K1240K; |
lung | carcinoma; adenocarcinoma |
c.889G>A; p.A297T; |
lung | carcinoma; squamous_cell_carcinoma |
c.3740C>G; p.T1247S; |
lung | carcinoma; adenocarcinoma |
c.3146C>T; p.S1049F; |
breast | carcinoma |
c.1004_1005delAT; p.T336fs*11; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1526T>G; p.V509G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3245C>T; p.P1082L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3253_3254insC; p.F1088fs*5; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1191T>C; p.Y397Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1452A>G; p.E484E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3284G>A; p.R1095H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1931G>T; p.R644M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421G>A; p.G141S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3991C>T; p.R1331*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3284G>A; p.R1095H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1370C>A; p.A457D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2844A>G; p.E948E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1082G>A; p.R361H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3167T>C; p.V1056A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3168G>T; p.V1056V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1484G>A; p.R495Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.523G>A; p.A175T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2765G>A; p.R922Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1458T>G; p.T486T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2836G>T; p.E946*; 2:47881462-47881462 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.554A>C; p.K185T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3387T>C; p.C1129C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.423C>T; p.G141G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2836G>T; p.E946*; 2:47881462-47881462 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3964G>T; p.E1322*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.693A>G; p.V231V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2418C>T; p.S806S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.388C>A; p.H130N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3253_3254insC; p.F1088fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1484G>A; p.R495Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3964G>T; p.E1322*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2935C>G; p.L979V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2868G>T; p.E956D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1810G>T; p.E604*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2076A>C; p.K692N; |
breast | carcinoma |
c.3712A>G; p.T1238A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1445G>A; p.R482Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2879A>C; p.N960T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3300G>A; p.T1100T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.533G>A; p.R178H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1585G>T; p.G529C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3700G>T; p.E1234*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3852G>A; p.T1284T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3759_3761delAGA; p.E1254delE; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2689A>C; p.N897H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2876G>A; p.R959H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3039G>T; p.K1013N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3992G>A; p.R1331Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3964G>T; p.E1322*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.593A>G; p.E198G; |
large_intestine | carcinoma; adenocarcinoma |
c.2836G>T; p.E946*; 2:47881462-47881462 |
endometrium | carcinoma; endometrioid_carcinoma |
c.3303G>T; p.K1101N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3896G>A; p.G1299D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3300G>A; p.T1100T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2625G>T; p.M875I; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.590A>G; p.D197G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.422G>A; p.G141D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.593A>G; p.E198G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3995T>C; p.L1332S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1930A>T; p.R644W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3305_3306insT; p.G1105fs*3; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1921G>T; p.E641*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3300G>A; p.T1100T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2248A>C; p.T750P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2927G>A; p.R976H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3141G>A; p.W1047*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3586G>T; p.E1196*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3083C>T; p.S1028L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1118T>C; p.L373P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2694T>C; p.P898P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2830A>G; p.I944V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3548T>A; p.I1183K; |
breast | carcinoma |
c.1267C>A; p.L423I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.297G>T; p.K99N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.670G>T; p.E224*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.957G>A; p.T319T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3039G>T; p.K1013N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2092C>G; p.Q698E; |
breast | carcinoma |
c.943T>C; p.S315P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3512A>T; p.D1171V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2195G>A; p.R732Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.267C>A; p.D89E; |
prostate | carcinoma; adenocarcinoma |
c.1147A>G; p.R383G; |
prostate | carcinoma; adenocarcinoma |
c.3351_3352insGA; p.E1119fs*27; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.590A>G; p.D197G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3071G>A; p.R1024Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.592G>A; p.E198K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2310T>C; p.G770G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.589G>A; p.D197N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3493T>C; p.C1165R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1484G>T; p.R495L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1724A>G; p.D575G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1168G>A; p.D390N; 2:47879794-47879794 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1422G>A; p.V474V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3476A>G; p.Y1159C; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2876G>A; p.R959H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3227G>A; p.R1076H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2722G>T; p.E908*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1168G>A; p.D390N; 2:47879794-47879794 |
endometrium | carcinoma; endometrioid_carcinoma |
c.592G>A; p.E198K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1527G>A; p.V509V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3246G>A; p.P1082P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3655A>G; p.T1219A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.559A>G; p.K187E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3227G>A; p.R1076H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2837A>G; p.E946G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4026G>A; p.R1342R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3510T>C; p.I1170I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3477C>T; p.Y1159Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.421G>A; p.G141S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1869C>A; p.P623P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1863G>C; p.L621L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.559A>G; p.K187E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1724A>G; p.D575G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1869C>T; p.P623P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3072G>A; p.R1024R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1484G>A; p.R495Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3254delC; p.F1088fs*2; 2:47884144-47884144 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3246G>T; p.P1082P; 2:47884136-47884136 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.1024G>T; p.A342S; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.4049T>C; p.V1350A; |
stomach | adenocarcinoma |
c.2765G>A; p.R922Q; |
stomach | adenocarcinoma |
c.560A>C; p.K187T; 2:47876639-47876639 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.794T>G; p.F265C; 2:47879420-47879420 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |