General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information |
|
---|---|
Gene ID | 23336 |
Name | SYNM |
Synonymous | synemin, intermediate filament protein;SYNM;synemin, intermediate filament protein |
Definition | desmuslin|synemin|synemin alpha|synemin beta |
Position | 15q26.3 |
Gene Type | protein-coding |
Mutation summary: | Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72 |
Mutation summary in protein domains | Top |
The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers | Top |
Loss of Function mutations compare to missense mutations | Top |
The ratio of the loss-of-function mutations over missense mutations is 0.20. |
The copy number variations for various cancers | Top |
The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) |
Site |
Histology |
Mutation Type |
---|---|---|---|
c.408G>A; p.R136R; 15:99105607-99105607 |
thyroid | other; neoplasm | Substitution - coding silent |
c.3104G>A; p.R1035Q; 15:99131467-99131467 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1547G>A; p.R516Q; 15:99129910-99129910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1547G>A; p.R516Q; 15:99129910-99129910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1414C>T; p.R472W; 15:99129777-99129777 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2649C>A; p.G883G; 15:99131012-99131012 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1547G>A; p.R516Q; 15:99129910-99129910 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1616A>G; p.E539G; 15:99129979-99129979 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3197G>T; p.R1066L; 15:99131560-99131560 |
pancreas | carcinoma | Substitution - Missense |
c.3197G>T; p.R1066L; 15:99131560-99131560 |
pancreas | carcinoma | Substitution - Missense |
c.2511delC; p.H841fs*47; 15:99130874-99130874 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2404C>T; p.R802*; 15:99130767-99130767 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1252G>A; p.V418I; 15:99129615-99129615 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1483C>G; p.L495V; 15:99129846-99129846 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2333G>A; p.G778D; 15:99130696-99130696 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1847G>A; p.R616Q; 15:99130210-99130210 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2827G>A; p.E943K; 15:99131190-99131190 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2961G>A; p.K987K; 15:99131324-99131324 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2961G>A; p.K987K; 15:99131324-99131324 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.2463T>G; p.G821G; 15:99130826-99130826 |
breast | carcinoma | Substitution - coding silent |
c.1409C>T; p.S470L; 15:99129772-99129772 |
skin | malignant_melanoma | Substitution - Missense |
c.3451-7C>T; p.?; 15:99132743-99132743 |
skin | malignant_melanoma | Unknown |
c.1020C>A; p.S340S; 15:99129383-99129383 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1710C>A; p.S570R; 15:99130073-99130073 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.2094C>T; p.S698S; 15:99130457-99130457 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2476G>A; p.E826K; 15:99130839-99130839 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.3611G>A; p.R1204K; 15:99132910-99132910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2268C>T; p.S756S; 15:99130631-99130631 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2470G>A; p.E824K; 15:99130833-99130833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3606C>A; p.A1202A; 15:99132905-99132905 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1259G>A; p.S420N; 15:99129622-99129622 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.969G>A; p.V323V; 15:99126758-99126758 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.3192T>C; p.F1064F; 15:99131555-99131555 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1512G>A; p.T504T; 15:99129875-99129875 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2682G>A; p.A894A; 15:99131045-99131045 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1248A>T; p.K416N; 15:99129611-99129611 |
skin | malignant_melanoma | Substitution - Missense |
c.3540G>A; p.A1180A; 15:99132839-99132839 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1248A>T; p.K416N; 15:99129611-99129611 |
skin | malignant_melanoma | Substitution - Missense |
c.2881G>A; p.E961K; 15:99131244-99131244 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1343C>A; p.P448Q; 15:99129706-99129706 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2421T>C; p.P807P; 15:99130784-99130784 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1752G>T; p.Q584H; 15:99130115-99130115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2773G>T; p.E925*; 15:99131136-99131136 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2542G>A; p.V848M; 15:99130905-99130905 |
skin | malignant_melanoma | Substitution - Missense |
c.854C>T; p.A285V; 15:99113637-99113637 |
liver | carcinoma | Substitution - Missense |
c.854C>T; p.A285V; 15:99113637-99113637 |
liver | carcinoma | Substitution - Missense |
c.2328G>A; p.S776S; 15:99130691-99130691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2253C>A; p.P751P; 15:99130616-99130616 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelofibrosis | Substitution - coding silent |
c.3227C>T; p.S1076L; 15:99131590-99131590 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1109G>A; p.S370N; 15:99129472-99129472 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1819G>A; p.G607S; 15:99130182-99130182 |
ovary | other; neoplasm | Substitution - Missense |
c.1819G>A; p.G607S; 15:99130182-99130182 |
ovary | other; neoplasm | Substitution - Missense |
c.1937T>G; p.L646R; 15:99130300-99130300 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2888T>C; p.M963T; 15:99131251-99131251 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2681C>T; p.A894V; 15:99131044-99131044 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2339delG; p.L782fs*36; 15:99130702-99130702 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.998C>G; p.P333R; 15:99126787-99126787 |
breast | carcinoma | Substitution - Missense |
c.2215A>G; p.R739G; 15:99130578-99130578 |
oesophagus | carcinoma | Substitution - Missense |
c.2283G>T; p.E761D; 15:99130646-99130646 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1738C>T; p.L580L; 15:99130101-99130101 |
skin | malignant_melanoma | Substitution - coding silent |
c.89G>A; p.R30Q; 15:99105288-99105288 |
breast | carcinoma | Substitution - Missense |
c.1053A>C; p.E351D; 15:99129416-99129416 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1593C>T; p.S531S; 15:99129956-99129956 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2377G>A; p.D793N; 15:99130740-99130740 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.641G>T; p.R214L; 15:99105840-99105840 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1592C>T; p.S531F; 15:99129955-99129955 |
skin | malignant_melanoma | Substitution - Missense |
c.3613G>T; p.E1205*; 15:99132912-99132912 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1511C>T; p.T504M; 15:99129874-99129874 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1477G>A; p.V493I; 15:99129840-99129840 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1487G>A; p.G496E; 15:99129850-99129850 |
breast | carcinoma | Substitution - Missense |
c.1714_1715insGA; p.V576fs*6; 15:99130077-99130078 |
endometrium | carcinoma; endometrioid_carcinoma | Insertion - Frameshift |
c.1550C>T; p.T517I; 15:99129913-99129913 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3733G>A; p.E1245K; 15:99133032-99133032 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.757G>C; p.A253P; 15:99105959-99105959 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3160G>A; p.G1054R; 15:99131523-99131523 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1818C>T; p.T606T; 15:99130181-99130181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1818C>T; p.T606T; 15:99130181-99130181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3383T>G; p.L1128R; 15:99131746-99131746 |
liver | carcinoma | Substitution - Missense |
c.3383T>G; p.L1128R; 15:99131746-99131746 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.3080A>T; p.E1027V; 15:99131443-99131443 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2938A>G; p.S980G; 15:99131301-99131301 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2580C>G; p.I860M; 15:99130943-99130943 |
breast | carcinoma | Substitution - Missense |
c.3539C>T; p.A1180V; 15:99132838-99132838 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1136G>T; p.G379V; 15:99129499-99129499 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3132A>G; p.P1044P; 15:99131495-99131495 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1908C>T; p.T636T; 15:99130271-99130271 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1814G>A; p.G605E; 15:99130177-99130177 |
breast | carcinoma | Substitution - Missense |
c.3497C>T; p.A1166V; 15:99132796-99132796 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1277C>A; p.T426N; 15:99129640-99129640 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2008G>A; p.V670M; 15:99130371-99130371 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1140C>A; p.H380Q; 15:99129503-99129503 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2637C>T; p.D879D; 15:99131000-99131000 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.3590G>T; p.G1197V; 15:99132889-99132889 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1168G>A; p.G390R; 15:99129531-99129531 |
skin | malignant_melanoma | Substitution - Missense |
c.2752G>T; p.E918*; 15:99131115-99131115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2711C>T; p.T904I; 15:99131074-99131074 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1598A>T; p.E533V; 15:99129961-99129961 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3678G>A; p.R1226R; 15:99132977-99132977 |
breast | carcinoma | Substitution - coding silent |
c.2768delA; p.E925fs*12; 15:99131131-99131131 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1572C>T; p.F524F; 15:99129935-99129935 |
skin | malignant_melanoma | Substitution - coding silent |
c.1650G>A; p.Q550Q; 15:99130013-99130013 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1572C>T; p.F524F; 15:99129935-99129935 |
skin | malignant_melanoma | Substitution - coding silent |
c.932+1G>A; p.?; 15:99113716-99113716 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1173T>G; p.G391G; 15:99129536-99129536 |
skin | malignant_melanoma | Substitution - coding silent |
c.1776G>A; p.P592P; 15:99130139-99130139 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.949G>T; p.E317*; 15:99126738-99126738 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.465_466delGC; p.A159fs*114; 15:99105664-99105665 |
stomach | carcinoma; intestinal_adenocarcinoma | Deletion - Frameshift |
c.1797G>A; p.V599V; 15:99130160-99130160 |
skin | malignant_melanoma | Substitution - coding silent |
c.1715G>A; p.R572Q; 15:99130078-99130078 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.3591G>T; p.G1197G; 15:99132890-99132890 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1715G>A; p.R572Q; 15:99130078-99130078 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.897G>A; p.V299V; 15:99113680-99113680 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2847G>A; p.V949V; 15:99131210-99131210 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1125T>C; p.S375S; 15:99129488-99129488 |
liver | carcinoma | Substitution - coding silent |
c.3110G>C; p.S1037T; 15:99131473-99131473 |
eye; uveal_tract | malignant_melanoma; mixed | Substitution - Missense |
c.2145G>A; p.G715G; 15:99130508-99130508 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.1362G>T; p.R454S; 15:99129725-99129725 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
large_intestine; rectum | carcinoma; adenocarcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Unknown |
c.702_702+1insG; p.A235fs*39; 15:99105903-99105903 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.2791G>A; p.E931K; 15:99131154-99131154 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2385A>G; p.T795T; 15:99130748-99130748 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.562G>A; p.A188T; 15:99105761-99105761 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3524G>T; p.G1175V; 15:99132823-99132823 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1199C>T; p.S400L; 15:99129562-99129562 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1060A>T; p.R354W; 15:99129423-99129423 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.3413G>A; p.R1138Q; 15:99131776-99131776 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1715_1716delGA; p.E575fs*4; 15:99130078-99130079 |
endometrium | carcinoma; endometrioid_carcinoma | Deletion - Frameshift |
c.1715_1716delGA; p.E575fs*4; 15:99130078-99130079 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1715_1716delGA; p.E575fs*4; 15:99130078-99130079 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.3689C>T; p.S1230L; 15:99132988-99132988 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.745C>T; p.R249W; 15:99105947-99105947 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2524G>A; p.D842N; 15:99130887-99130887 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3010G>A; p.V1004I; 15:99131373-99131373 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2284G>A; p.E762K; 15:99130647-99130647 |
breast | carcinoma | Substitution - Missense |
c.2433G>A; p.T811T; 15:99130796-99130796 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3010G>A; p.V1004I; 15:99131373-99131373 |
kidney | other; neoplasm | Substitution - Missense |
c.61C>T; p.R21W; 15:99105260-99105260 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.910_912delAGT; p.S304delS; 15:99113693-99113695 |
ovary | carcinoma; serous_carcinoma | Deletion - In frame |
c.3151G>T; p.E1051*; 15:99131514-99131514 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2868G>T; p.E956D; 15:99131231-99131231 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2124C>T; p.S708S; 15:99130487-99130487 |
liver | carcinoma | Substitution - coding silent |
c.2124C>T; p.S708S; 15:99130487-99130487 |
liver | carcinoma | Substitution - coding silent |
c.3275G>A; p.R1092H; 15:99131638-99131638 |
liver | carcinoma | Substitution - Missense |
c.2416C>T; p.Q806*; 15:99130779-99130779 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.2562C>T; p.I854I; 15:99130925-99130925 |
skin | malignant_melanoma | Substitution - coding silent |
c.2651_2653delAGA; p.K885delK; 15:99131014-99131016 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Deletion - In frame |
c.1711G>A; p.V571M; 15:99130074-99130074 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - Missense |
c.2791G>T; p.E931*; 15:99131154-99131154 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2791G>T; p.E931*; 15:99131154-99131154 |
breast | carcinoma | Substitution - Nonsense |
c.2030G>A; p.G677E; 15:99130393-99130393 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2030G>A; p.G677E; 15:99130393-99130393 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.3173C>T; p.P1058L; 15:99131536-99131536 |
thyroid | other; neoplasm | Substitution - Missense |
c.1820_1821GT>AA; p.G607>?; 15:99130183-99130184 |
NS | malignant_melanoma | Complex |
c.3726T>C; p.N1242N; 15:99133025-99133025 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.876C>T; p.D292D; 15:99113659-99113659 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1750C>A; p.Q584K; 15:99130113-99130113 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1404C>T; p.R468R; 15:99129767-99129767 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.633G>C; p.E211D; 15:99105832-99105832 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1931G>A; p.S644N; 15:99130294-99130294 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1817C>T; p.T606I; 15:99130180-99130180 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3012C>G; p.V1004V; 15:99131375-99131375 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2028T>C; p.P676P; 15:99130391-99130391 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3274C>T; p.R1092C; 15:99131637-99131637 |
prostate | carcinoma | Substitution - Missense |
c.1690G>A; p.D564N; 15:99130053-99130053 |
skin | malignant_melanoma | Substitution - Missense |
c.2986G>A; p.V996M; 15:99131349-99131349 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2191C>A; p.L731I; 15:99130554-99130554 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1969G>T; p.A657S; 15:99130332-99130332 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3628C>A; p.Q1210K; 15:99132927-99132927 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1706A>T; p.K569M; 15:99130069-99130069 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.3628C>A; p.Q1210K; 15:99132927-99132927 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.1103A>G; p.N368S; 15:99129466-99129466 |
liver | carcinoma | Substitution - Missense |
c.1103A>G; p.N368S; 15:99129466-99129466 |
liver | carcinoma | Substitution - Missense |
c.3349G>C; p.E1117Q; 15:99131712-99131712 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2752G>A; p.E918K; 15:99131115-99131115 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2752G>A; p.E918K; 15:99131115-99131115 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2752G>A; p.E918K; 15:99131115-99131115 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1200G>A; p.S400S; 15:99129563-99129563 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1806T>C; p.A602A; 15:99130169-99130169 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.905G>A; p.G302D; 15:99113688-99113688 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1791G>A; p.T597T; 15:99130154-99130154 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1728G>A; p.V576V; 15:99130091-99130091 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.891G>A; p.L297L; 15:99113674-99113674 |
liver | carcinoma | Substitution - coding silent |