| Gene ID | 3092 |
| Symbol | HIP1 |
| Synonymous | HIP-I|ILWEQ|SHON |
| Full name | huntingtin interacting protein 1 |
| Gene description | huntingtin-interacting protein 1|huntingtin-interacting protein I |
| Cytoband | 7q11.23 |
| Gene type | protein-coding |
| Synonymous | MIM:601767; HGNC:HGNC:4913; Ensembl:ENSG00000127946; HPRD:03461; Vega:OTTHUMG00000156050 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.397G>A; p.E133K; 7:75586821-75586821 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1322G>T; p.R441M; 7:75559785-75559785 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1547C>T; p.S516L; 7:75557688-75557688 |
skin | malignant_melanoma | Substitution - Missense |
c.1547C>T; p.S516L; 7:75557688-75557688 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2776G>A; p.D926N; 7:75542965-75542965 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1704C>T; p.A568A; 7:75556149-75556149 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1070G>A; p.S357N; 7:75562121-75562121 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.851G>A; p.R284Q; 7:75563216-75563216 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1636C>T; p.Q546*; 7:75556757-75556757 |
prostate | carcinoma | Substitution - Nonsense |
c.2329G>C; p.E777Q; 7:75548968-75548968 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.853C>T; p.L285F; 7:75563214-75563214 |
stomach | adenocarcinoma | Substitution - Missense |
c.2904C>G; p.F968L; 7:75541967-75541967 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2184T>C; p.Y728Y; 7:75553564-75553564 |
bone; femur | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2088C>G; p.A696A; 7:75554183-75554183 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2218G>A; p.E740K; 7:75553530-75553530 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.85G>C; p.E29Q; 7:75738836-75738836 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2157C>A; p.D719E; 7:75554114-75554114 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2198T>C; p.L733P; 7:75553550-75553550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2932C>T; p.R978C; 7:75541939-75541939 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1390A>G; p.N464D; 7:75558241-75558241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2172C>T; p.A724A; 7:75553576-75553576 |
skin | malignant_melanoma | Substitution - coding silent |
c.2722C>T; p.H908Y; 7:75544739-75544739 |
skin | malignant_melanoma | Substitution - Missense |
c.149C>T; p.T50M; 7:75599219-75599219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2142A>C; p.P714P; 7:75554129-75554129 |
breast | carcinoma | Substitution - coding silent |
c.1377G>A; p.R459R; 7:75558254-75558254 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1081A>G; p.N361D; 7:75562110-75562110 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1377G>A; p.R459R; 7:75558254-75558254 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2953G>C; p.V985L; 7:75539431-75539431 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1556G>A; p.R519H; 7:75557679-75557679 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.178G>A; p.A60T; 7:75599190-75599190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1093C>G; p.Q365E; 7:75562098-75562098 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2953-1G>T; p.?; 7:75539432-75539432 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Unknown |
c.144T>G; p.I48M; 7:75599224-75599224 |
skin | malignant_melanoma | Substitution - Missense |
c.120+9G>A; p.?; 7:75738792-75738792 |
liver | carcinoma; hepatocellular_carcinoma | Unknown |
c.1376-1G>T; p.?; 7:75558256-75558256 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1593G>A; p.Q531Q; 7:75556800-75556800 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1523G>A; p.R508Q; 7:75557712-75557712 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.L235F; 7:75573803-75573803 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1570G>T; p.G524C; 7:75557665-75557665 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1729C>T; p.R577W; 7:75556124-75556124 |
breast | carcinoma | Substitution - Missense |
c.2627C>T; p.S876F; 7:75545121-75545121 |
skin | malignant_melanoma | Substitution - Missense |
c.3102C>T; p.T1034T; 7:75538184-75538184 |
skin | malignant_melanoma | Substitution - coding silent |
c.2921C>A; p.T974K; 7:75541950-75541950 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2645G>T; p.G882V; 7:75545103-75545103 |
liver | carcinoma | Substitution - Missense |
c.2645G>T; p.G882V; 7:75545103-75545103 |
liver | carcinoma | Substitution - Missense |
c.2884G>T; p.E962*; 7:75542857-75542857 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1376G>A; p.R459K; 7:75558255-75558255 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2952+1G>T; p.?; 7:75541918-75541918 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2906C>G; p.S969*; 7:75541965-75541965 |
ovary | other; neoplasm | Substitution - Nonsense |
c.2943G>T; p.M981I; 7:75541928-75541928 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.245G>A; p.R82H; 7:75592454-75592454 |
pancreas | carcinoma | Substitution - Missense |
c.2916G>T; p.T972T; 7:75541955-75541955 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1279G>A; p.A427T; 7:75559828-75559828 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1249G>A; p.A417T; 7:75559858-75559858 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2960T>G; p.V987G; 7:75539424-75539424 |
breast | carcinoma | Substitution - Missense |
c.2928C>A; p.I976I; 7:75541943-75541943 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.294G>A; p.V98V; 7:75592405-75592405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.752C>A; p.P251Q; 7:75568250-75568250 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2309G>A; p.R770K; 7:75548988-75548988 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.298C>T; p.H100Y; 7:75592401-75592401 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.164T>A; p.V55E; 7:75599204-75599204 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2336T>C; p.L779P; 7:75548961-75548961 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2993G>A; p.R998H; 7:75539391-75539391 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2322C>G; p.I774M; 7:75548975-75548975 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.123T>C; p.T41T; 7:75599245-75599245 |
large_intestine; colon | NS | Substitution - coding silent |
c.2200G>A; p.A734T; 7:75553548-75553548 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.835C>T; p.L279L; 7:75563232-75563232 |
skin | malignant_melanoma | Substitution - coding silent |
c.963C>T; p.P321P; 7:75562992-75562992 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1270C>A; p.Q424K; 7:75559837-75559837 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1189G>C; p.E397Q; 7:75561331-75561331 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2592G>T; p.K864N; 7:75545156-75545156 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2845G>A; p.V949I; 7:75542896-75542896 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.775C>A; p.R259R; 7:75568227-75568227 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - coding silent |
c.3020A>G; p.K1007R; 7:75539364-75539364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1281C>T; p.A427A; 7:75559826-75559826 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1281C>T; p.A427A; 7:75559826-75559826 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.850C>T; p.R284W; 7:75563217-75563217 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2379T>A; p.A793A; 7:75548918-75548918 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2603G>T; p.W868L; 7:75545145-75545145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2445C>T; p.V815V; 7:75547775-75547775 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2478C>T; p.C826C; 7:75547020-75547020 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2292C>T; p.G764G; 7:75553456-75553456 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2295+2T>C; p.?; 7:75553451-75553451 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1075C>T; p.P359S; 7:75562116-75562116 |
skin | malignant_melanoma | Substitution - Missense |
c.962C>T; p.P321L; 7:75562993-75562993 |
skin | malignant_melanoma | Substitution - Missense |
c.1391A>G; p.N464S; 7:75558240-75558240 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2693G>T; p.G898V; 7:75544768-75544768 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2496A>G; p.Q832Q; 7:75547002-75547002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2693G>T; p.G898V; 7:75544768-75544768 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1781T>C; p.L594P; 7:75556072-75556072 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1988C>T; p.S663F; 7:75554502-75554502 |
skin | malignant_melanoma | Substitution - Missense |
c.287G>A; p.C96Y; 7:75592412-75592412 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.523G>T; p.E175*; 7:75582094-75582094 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1980G>A; p.T660T; 7:75554510-75554510 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.770G>A; p.G257D; 7:75568232-75568232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1548G>A; p.S516S; 7:75557687-75557687 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.687C>G; p.I229M; 7:75573819-75573819 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.518C>T; p.A173V; 7:75582099-75582099 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2102A>G; p.D701G; 7:75554169-75554169 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2265C>A; p.N755K; 7:75553483-75553483 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2289C>T; p.I763I; 7:75553459-75553459 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2967G>T; p.E989D; 7:75539417-75539417 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2213C>A; p.S738Y; 7:75553535-75553535 |
breast | carcinoma | Substitution - Missense |
c.1804C>T; p.Q602*; 7:75556049-75556049 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Nonsense |
c.1230C>T; p.S410S; 7:75559877-75559877 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2739C>G; p.S913R; 7:75544722-75544722 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2309G>T; p.R770M; 7:75548988-75548988 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3101C>T; p.T1034I; 7:75538185-75538185 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.132C>G; p.I44M; 7:75599236-75599236 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1145G>C; p.R382T; 7:75561375-75561375 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.132C>G; p.I44M; 7:75599236-75599236 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2572C>G; p.P858A; 7:75545176-75545176 |
breast | carcinoma | Substitution - Missense |
c.2840C>T; p.A947V; 7:75542901-75542901 |
pancreas | NS | Substitution - Missense |
c.2731G>T; p.A911S; 7:75544730-75544730 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.385-7C>T; p.?; 7:75586840-75586840 |
liver | carcinoma | Unknown |
c.385-7C>T; p.?; 7:75586840-75586840 |
liver | carcinoma | Unknown |
c.2844C>T; p.G948G; 7:75542897-75542897 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2653G>A; p.V885I; 7:75545095-75545095 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2653G>A; p.V885I; 7:75545095-75545095 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.2769G>A; p.V923V; 7:75542972-75542972 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2926A>G; p.I976V; 7:75541945-75541945 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1588G>T; p.E530*; 7:75556805-75556805 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.614C>T; p.S205F; 7:75573892-75573892 |
skin | malignant_melanoma | Substitution - Missense |
c.2307C>T; p.P769P; 7:75548990-75548990 |
skin | malignant_melanoma | Substitution - coding silent |
c.2720C>T; p.S907F; 7:75544741-75544741 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2584T>C; p.Y862H; 7:75545164-75545164 |
skin | malignant_melanoma | Substitution - Missense |
c.1095A>T; p.Q365H; 7:75562096-75562096 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.2600G>C; p.R867P; 7:75545148-75545148 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.837G>A; p.L279L; 7:75563230-75563230 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1828-7T>G; p.?; 7:75555558-75555558 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.2572C>T; p.P858S; 7:75545176-75545176 |
skin | malignant_melanoma | Substitution - Missense |
c.1453C>T; p.L485L; 7:75558178-75558178 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2370T>G; p.T790T; 7:75548927-75548927 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1950C>T; p.C650C; 7:75555429-75555429 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.712T>C; p.Y238H; 7:75573794-75573794 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307A>T; p.E436V; 7:75559800-75559800 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.141C>T; p.A47A; 7:75599227-75599227 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.776G>A; p.R259Q; 7:75568226-75568226 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.776G>A; p.R259Q; 7:75568226-75568226 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1180A>T; p.M394L; 7:75561340-75561340 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2597C>T; p.S866F; 7:75545151-75545151 |
skin | malignant_melanoma | Substitution - Missense |
c.632C>T; p.S211F; 7:75573874-75573874 |
skin | malignant_melanoma | Substitution - Missense |
c.972G>A; p.E324E; 7:75562983-75562983 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.972G>A; p.E324E; 7:75562983-75562983 |
breast | carcinoma | Substitution - coding silent |
c.2399G>A; p.R800K; 7:75548898-75548898 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2311G>A; p.G771R; 7:75548986-75548986 |
skin | malignant_melanoma | Substitution - Missense |
c.876T>C; p.P292P; 7:75563191-75563191 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3067G>C; p.E1023Q; 7:75538219-75538219 |
breast | carcinoma | Substitution - Missense |
c.644C>G; p.T215R; 7:75573862-75573862 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.644C>G; p.T215R; 7:75573862-75573862 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.186G>A; p.T62T; 7:75592513-75592513 |
breast | carcinoma | Substitution - coding silent |
c.644C>T; p.T215M; 7:75573862-75573862 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.58A>T; p.S20C; 7:75738863-75738863 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1391A>C; p.N464T; 7:75558240-75558240 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1853A>G; p.D618G; 7:75555526-75555526 |
pancreas | carcinoid-endocrine_tumour; islet_cell | Substitution - Missense |
c.1198C>T; p.R400W; 7:75559909-75559909 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2790C>T; p.P930P; 7:75542951-75542951 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1710C>T; p.F570F; 7:75556143-75556143 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2415C>A; p.L805L; 7:75547805-75547805 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1710C>T; p.F570F; 7:75556143-75556143 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.297C>T; p.F99F; 7:75592402-75592402 |
skin | malignant_melanoma | Substitution - coding silent |
c.2333A>G; p.E778G; 7:75548964-75548964 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3055G>C; p.E1019Q; 7:75539329-75539329 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.916G>T; p.E306*; 7:75563039-75563039 |
prostate | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.830G>A; p.S277N; 7:75563237-75563237 |
lung | carcinoma | Substitution - Missense |
c.1696T>C; p.W566R; 7:75556157-75556157 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.830G>A; p.S277N; 7:75563237-75563237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.751C>T; p.P251S; 7:75568251-75568251 |
skin | malignant_melanoma | Substitution - Missense |
c.1639C>T; p.R547W; 7:75556754-75556754 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2971G>T; p.E991*; 7:75539413-75539413 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.3038G>T; p.G1013V; 7:75539346-75539346 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.660C>T; p.C220C; 7:75573846-75573846 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.914C>G; p.S305*; 7:75563041-75563041 |
breast | carcinoma | Substitution - Nonsense |
c.757G>A; p.D253N; 7:75568245-75568245 |
breast | carcinoma | Substitution - Missense |
c.1858C>T; p.R620*; 7:75555521-75555521 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.996C>A; p.L332L; 7:75562959-75562959 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1225G>A; p.V409I; 7:75559882-75559882 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2131C>A; p.L711I; 7:75554140-75554140 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |