| Gene ID | 4437 |
| Symbol | MSH3 |
| Synonymous | DUP|MRP1 |
| Full name | mutS homolog 3 |
| Gene description | DNA mismatch repair protein Msh3|divergent upstream protein|hMSH3|mismatch repair protein 1 |
| Cytoband | 5q11-q12 |
| Gene type | protein-coding |
| Synonymous | MIM:600887; HGNC:HGNC:7326; Ensembl:ENSG00000113318; HPRD:02931; Vega:OTTHUMG00000162540 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1919A>C; p.K640T; 5:80767982-80767982 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2353C>T; p.Q785*; 5:80778781-80778781 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.2433_2434insT; p.L812fs*3; 5:80787589-80787590 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Insertion - Frameshift |
c.2192C>T; p.P731L; 5:80768969-80768969 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2146G>A; p.E716K; 5:80768923-80768923 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2020G>C; p.E674Q; 5:80768083-80768083 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2287G>A; p.G763R; 5:80775754-80775754 |
skin | malignant_melanoma | Substitution - Missense |
c.1114_1115delAA; p.K374fs*20; 5:80675096-80675097 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2551A>C; p.K851Q; 5:80792767-80792767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2550delA; p.N852fs*6; 5:80792766-80792766 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.320C>T; p.S107F; 5:80656520-80656520 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3285C>G; p.L1095L; 5:80875760-80875760 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2318C>T; p.S773F; 5:80778746-80778746 |
skin | malignant_melanoma | Substitution - Missense |
c.2263A>C; p.I755L; 5:80775730-80775730 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2058A>T; p.K686N; 5:80768835-80768835 |
liver | carcinoma | Substitution - Missense |
c.3308C>T; p.T1103M; 5:80875783-80875783 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2058A>T; p.K686N; 5:80768835-80768835 |
liver | carcinoma | Substitution - Missense |
c.279G>T; p.K93N; 5:80656479-80656479 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3103+1G>T; p.?; 5:80864943-80864943 |
lung | carcinoma; adenocarcinoma | Unknown |
c.2311T>C; p.F771L; 5:80778739-80778739 |
ovary | carcinoma | Substitution - Missense |
c.1334G>T; p.R445L; 5:80725473-80725473 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2367G>T; p.Q789H; 5:80778795-80778795 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1813C>T; p.H605Y; 5:80761622-80761622 |
skin | malignant_melanoma | Substitution - Missense |
c.1813C>T; p.H605Y; 5:80761622-80761622 |
skin | malignant_melanoma | Substitution - Missense |
c.181-4T>G; p.?; 5:80654931-80654931 |
thyroid | other; neoplasm | Unknown |
c.181-4T>G; p.?; 5:80654931-80654931 |
liver | carcinoma | Unknown |
c.1209A>G; p.S403S; 5:80678989-80678989 |
skin | malignant_melanoma | Substitution - coding silent |
c.2862C>T; p.I954I; 5:80854205-80854205 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1712T>C; p.V571A; 5:80744591-80744591 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2981C>T; p.S994F; 5:80864820-80864820 |
skin | malignant_melanoma | Substitution - Missense |
c.3371C>T; p.T1124I; 5:80875846-80875846 |
skin | malignant_melanoma | Substitution - Missense |
c.47C>A; p.S16*; 5:80654774-80654774 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.847G>C; p.V283L; 5:80672325-80672325 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1017C>T; p.I339I; 5:80674999-80674999 |
skin | malignant_melanoma | Substitution - coding silent |
c.666G>A; p.P222P; 5:80670210-80670210 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.666G>A; p.P222P; 5:80670210-80670210 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2960A>G; p.Y987C; 5:80854303-80854303 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2787G>T; p.R929S; 5:80854130-80854130 |
breast | carcinoma | Substitution - Missense |
c.447G>T; p.E149D; 5:80665258-80665258 |
breast | carcinoma | Substitution - Missense |
c.883-1G>A; p.?; 5:80672740-80672740 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1370G>A; p.S457N; 5:80725509-80725509 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.724G>T; p.E242*; 5:80670268-80670268 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Nonsense |
c.151_159delGCTGCAGCG; p.A54_A56delAAA; 5:80654878-80654886 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.1542-1G>A; p.?; 5:80741463-80741463 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Unknown |
c.1542-1G>A; p.?; 5:80741463-80741463 |
urinary_tract; bladder | carcinoma | Unknown |
c.2358C>G; p.L786L; 5:80778786-80778786 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.632C>A; p.S211*; 5:80670176-80670176 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1234C>G; p.L412V; 5:80679014-80679014 |
bone; tibia | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.643C>T; p.R215W; 5:80670187-80670187 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2204A>C; p.Y735S; 5:80768981-80768981 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1704G>A; p.K568K; 5:80744583-80744583 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1848C>T; p.L616L; 5:80761657-80761657 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2261G>T; p.C754F; 5:80775728-80775728 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.180+10C>G; p.?; 5:80654917-80654917 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.180+10C>G; p.?; 5:80654917-80654917 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.849T>C; p.V283V; 5:80672327-80672327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3312G>A; p.M1104I; 5:80875787-80875787 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2964C>T; p.F988F; 5:80854307-80854307 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2131C>T; p.Q711*; 5:80768908-80768908 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2394G>A; p.W798*; 5:80778822-80778822 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1208C>G; p.S403*; 5:80678988-80678988 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1841G>A; p.R614K; 5:80761650-80761650 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.2956G>C; p.E986Q; 5:80854299-80854299 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1826T>G; p.L609W; 5:80761635-80761635 |
skin | malignant_melanoma | Substitution - Missense |
c.2332G>A; p.E778K; 5:80778760-80778760 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2800G>A; p.D934N; 5:80854143-80854143 |
ovary | carcinoma | Substitution - Missense |
c.33C>T; p.L11L; 5:80654760-80654760 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.33C>T; p.L11L; 5:80654760-80654760 |
breast | carcinoma | Substitution - coding silent |
c.772G>A; p.A258T; 5:80672250-80672250 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2447T>C; p.V816A; 5:80787603-80787603 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2944T>C; p.Y982H; 5:80854287-80854287 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1614C>T; p.I538I; 5:80741536-80741536 |
skin | malignant_melanoma | Substitution - coding silent |
c.2191C>T; p.P731S; 5:80768968-80768968 |
skin | malignant_melanoma | Substitution - Missense |
c.2659G>A; p.G887R; 5:80813614-80813614 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2659G>A; p.G887R; 5:80813614-80813614 |
breast | carcinoma | Substitution - Missense |
c.747C>A; p.F249L; 5:80670291-80670291 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2668A>G; p.M890V; 5:80813623-80813623 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.2931A>G; p.G977G; 5:80854274-80854274 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2537G>T; p.R846I; 5:80792753-80792753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1114_1115insA; p.N376fs*19; 5:80675096-80675097 |
pancreas | carcinoma; acinar_carcinoma | Insertion - Frameshift |
c.3255A>T; p.E1085D; 5:80873267-80873267 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1626+1G>C; p.?; 5:80741549-80741549 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Unknown |
c.3255A>T; p.E1085D; 5:80873267-80873267 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.14A>C; p.K5T; 5:80654741-80654741 |
liver | carcinoma | Substitution - Missense |
c.14A>C; p.K5T; 5:80654741-80654741 |
liver | carcinoma | Substitution - Missense |
c.150C>G; p.G50G; 5:80654877-80654877 |
thyroid | other; neoplasm | Substitution - coding silent |
c.721G>A; p.V241M; 5:80670265-80670265 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.388G>T; p.E130*; 5:80665199-80665199 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2470T>C; p.C824R; 5:80787626-80787626 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1068C>T; p.T356T; 5:80675050-80675050 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1884G>T; p.E628D; 5:80767947-80767947 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1628C>T; p.T543I; 5:80744507-80744507 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.779A>G; p.E260G; 5:80672257-80672257 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.662C>T; p.T221M; 5:80670206-80670206 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2868A>T; p.K956N; 5:80854211-80854211 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.348G>A; p.L116L; 5:80665159-80665159 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.348G>A; p.L116L; 5:80665159-80665159 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2572A>G; p.I858V; 5:80792788-80792788 |
breast | carcinoma | Substitution - Missense |
c.1870-8A>G; p.?; 5:80767925-80767925 |
liver | carcinoma | Unknown |
c.1870-8A>G; p.?; 5:80767925-80767925 |
liver | carcinoma | Unknown |
c.876A>T; p.G292G; 5:80672354-80672354 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2066A>G; p.D689G; 5:80768843-80768843 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2677A>C; p.K893Q; 5:80813632-80813632 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1868A>C; p.K623T; 5:80761677-80761677 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3321A>G; p.A1107A; 5:80875796-80875796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1507G>T; p.E503*; 5:80728931-80728931 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2410A>T; p.K804*; 5:80787566-80787566 |
NS | NS | Substitution - Nonsense |
c.874G>T; p.G292*; 5:80672352-80672352 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1786T>C; p.S596P; 5:80761595-80761595 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1786T>C; p.S596P; 5:80761595-80761595 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2005C>T; p.L669F; 5:80768068-80768068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1714A>C; p.T572P; 5:80744593-80744593 |
liver | carcinoma | Substitution - Missense |
c.2420A>G; p.E807G; 5:80787576-80787576 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.217G>C; p.E73Q; 5:80656417-80656417 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2040C>A; p.L680L; 5:80768103-80768103 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.111C>T; p.T37T; 5:80654838-80654838 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.111C>T; p.T37T; 5:80654838-80654838 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.3379C>T; p.L1127F; 5:80875854-80875854 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.111C>T; p.T37T; 5:80654838-80654838 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2357T>A; p.L786H; 5:80778785-80778785 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3026delA; p.N1011fs*40; 5:80864865-80864865 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2357T>A; p.L786H; 5:80778785-80778785 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2517-1G>A; p.?; 5:80792732-80792732 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.3170G>A; p.R1057K; 5:80873182-80873182 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1730A>C; p.K577T; 5:80744609-80744609 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1113_1114insA; p.N376fs*19; 5:80675095-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.719G>A; p.C240Y; 5:80670263-80670263 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2482C>T; p.L828L; 5:80787638-80787638 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1893G>C; p.L631F; 5:80767956-80767956 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2588G>A; p.G863E; 5:80792804-80792804 |
breast | carcinoma | Substitution - Missense |
c.2063G>T; p.G688V; 5:80768840-80768840 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
skin | malignant_melanoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2989_2990delCT; p.L997fs*10; 5:80864828-80864829 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1150G>A; p.V384M; 5:80678930-80678930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
stomach | adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1114delA; p.K374fs*32; 5:80675096-80675096 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1214T>C; p.L405P; 5:80678994-80678994 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1338C>T; p.V446V; 5:80725477-80725477 |
skin | malignant_melanoma | Substitution - coding silent |
c.215C>A; p.T72K; 5:80656415-80656415 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3093A>G; p.K1031K; 5:80864932-80864932 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1503C>G; p.L501L; 5:80728927-80728927 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1503C>G; p.L501L; 5:80728927-80728927 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.1736+7G>T; p.?; 5:80744622-80744622 |
liver | carcinoma | Unknown |
c.1736+7G>T; p.?; 5:80744622-80744622 |
liver | carcinoma | Unknown |
c.731G>A; p.G244E; 5:80670275-80670275 |
breast | carcinoma; HER-positive_carcinoma | Substitution - Missense |
c.2644G>T; p.V882L; 5:80813599-80813599 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.180+7C>G; p.?; 5:80654914-80654914 |
stomach | carcinoma; diffuse_adenocarcinoma | Unknown |
c.2268A>T; p.P756P; 5:80775735-80775735 |
breast | carcinoma | Substitution - coding silent |
c.2316_2317delCT; p.P774fs*19; 5:80778744-80778745 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Deletion - Frameshift |
c.251A>C; p.N84T; 5:80656451-80656451 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2145C>T; p.D715D; 5:80768922-80768922 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2020G>T; p.E674*; 5:80768083-80768083 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1501C>T; p.L501F; 5:80728925-80728925 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1093A>C; p.N365H; 5:80675075-80675075 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2409-6C>T; p.?; 5:80787559-80787559 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.180C>T; p.P60P; 5:80654907-80654907 |
thyroid | other; neoplasm | Substitution - coding silent |
c.2244G>T; p.K748N; 5:80775711-80775711 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2244G>T; p.K748N; 5:80775711-80775711 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2588G>T; p.G863V; 5:80792804-80792804 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.427C>T; p.Q143*; 5:80665238-80665238 |
liver | carcinoma | Substitution - Nonsense |
c.1408G>T; p.D470Y; 5:80725547-80725547 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.427C>T; p.Q143*; 5:80665238-80665238 |
liver | carcinoma | Substitution - Nonsense |
c.1408G>T; p.D470Y; 5:80725547-80725547 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.777A>G; p.R259R; 5:80672255-80672255 |
liver | carcinoma | Substitution - coding silent |
c.777A>G; p.R259R; 5:80672255-80672255 |
liver | carcinoma | Substitution - coding silent |
c.1204C>T; p.R402C; 5:80678984-80678984 |
skin | malignant_melanoma | Substitution - Missense |
c.2919C>T; p.S973S; 5:80854262-80854262 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1950T>G; p.V650V; 5:80768013-80768013 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.3105C>T; p.G1035G; 5:80873117-80873117 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - coding silent |
c.329C>G; p.S110C; 5:80656529-80656529 |
breast | carcinoma | Substitution - Missense |
c.3219T>G; p.I1073M; 5:80873231-80873231 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2576A>G; p.D859G; 5:80792792-80792792 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2160T>A; p.H720Q; 5:80768937-80768937 |
breast | carcinoma | Substitution - Missense |
c.967G>A; p.A323T; 5:80672825-80672825 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.339G>T; p.K113N; 5:80665150-80665150 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1432C>G; p.Q478E; 5:80728856-80728856 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.989T>A; p.L330H; 5:80672847-80672847 |
kidney | other; neoplasm | Substitution - Missense |
c.1436T>C; p.I479T; 5:80728860-80728860 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1436T>C; p.I479T; 5:80728860-80728860 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.897G>A; p.K299K; 5:80672755-80672755 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2332G>C; p.E778Q; 5:80778760-80778760 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1127A>T; p.N376I; 5:80675109-80675109 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2621A>T; p.D874V; 5:80792837-80792837 |
pancreas | carcinoma | Substitution - Missense |
c.1916T>C; p.L639P; 5:80767979-80767979 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.181-9C>G; p.?; 5:80654926-80654926 |
lung | carcinoma; adenocarcinoma | Unknown |
c.181-9C>G; p.?; 5:80654926-80654926 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Unknown |
c.3106G>A; p.A1036T; 5:80873118-80873118 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.502G>A; p.A168T; 5:80665313-80665313 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.57G>A; p.A19A; 5:80654784-80654784 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1223G>A; p.R408Q; 5:80679003-80679003 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3103+2T>C; p.?; 5:80864944-80864944 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.59G>A; p.R20K; 5:80654786-80654786 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |