| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 60495 |
Name | HPSE2 |
Synonymous | heparanase 2 (inactive);HPSE2;heparanase 2 (inactive) |
Definition | heparanase 3|heparanase-like protein|inactive heparanase-2 |
Position | 10q23-q24 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1368C>A; p.V456V; 10:98490149-98490149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1167C>T; p.G389G; 10:98620640-98620640 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.546T>C; p.A182A; 10:99144302-99144302 |
breast | carcinoma | Substitution - coding silent |
c.1341C>T; p.L447L; 10:98490176-98490176 |
skin | malignant_melanoma | Substitution - coding silent |
c.1272delT; p.F424fs*28; 10:98614952-98614952 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1272delT; p.F424fs*28; 10:98614952-98614952 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.457C>T; p.R153*; 10:99144391-99144391 |
skin | malignant_melanoma | Substitution - Nonsense |
c.152G>T; p.R51I; 10:99235651-99235651 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1321-1G>T; p.?; 10:98490197-98490197 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.376C>T; p.Q126*; 10:99232420-99232420 |
liver | carcinoma | Substitution - Nonsense |
c.1321-1G>T; p.?; 10:98490197-98490197 |
skin | malignant_melanoma | Unknown |
c.1690C>T; p.R564W; 10:98459663-98459663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1254G>C; p.V418V; 10:98614970-98614970 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1690C>T; p.R564W; 10:98459663-98459663 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1690C>T; p.R564W; 10:98459663-98459663 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.843G>T; p.K281N; 10:98721770-98721770 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1254G>C; p.V418V; 10:98614970-98614970 |
breast | carcinoma | Substitution - coding silent |
c.204G>A; p.K68K; 10:99235599-99235599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1025T>G; p.V342G; 10:98641920-98641920 |
breast | carcinoma | Substitution - Missense |
c.275G>T; p.W92L; 10:99235528-99235528 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1280G>T; p.G427V; 10:98614944-98614944 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.972A>C; p.A324A; 10:98693932-98693932 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1574A>T; p.Y525F; 10:98482675-98482675 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.1149G>A; p.V383V; 10:98620658-98620658 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1691G>T; p.R564L; 10:98459662-98459662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042T>G; p.F348V; 10:98641903-98641903 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.882G>T; p.R294R; 10:98721731-98721731 |
lung; middle_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1450T>C; p.C484R; 10:98490067-98490067 |
skin | malignant_melanoma | Substitution - Missense |
c.881G>A; p.R294Q; 10:98721732-98721732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.831C>T; p.S277S; 10:98721782-98721782 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.118C>T; p.Q40*; 10:99235685-99235685 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.118C>T; p.Q40*; 10:99235685-99235685 |
liver | carcinoma | Substitution - Nonsense |
c.1378C>T; p.H460Y; 10:98490139-98490139 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1154C>T; p.T385I; 10:98620653-98620653 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.57_58insC; p.A20fs*45; 10:99235745-99235746 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.890C>T; p.S297F; 10:98721723-98721723 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.485A>C; p.K162T; 10:99144363-99144363 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1089A>C; p.K363N; 10:98641856-98641856 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1222_1223GG>AA; p.G408K; 10:98615001-98615002 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.58_59insC; p.C21fs*44; 10:99235744-99235745 |
stomach | carcinoma; intestinal_adenocarcinoma | Insertion - Frameshift |
c.800G>A; p.R267Q; 10:98721813-98721813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.820G>A; p.V274I; 10:98721793-98721793 |
skin | malignant_melanoma | Substitution - Missense |
c.800G>A; p.R267Q; 10:98721813-98721813 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.221T>C; p.V74A; 10:99235582-99235582 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1006T>A; p.C336S; 10:98641939-98641939 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1678C>T; p.P560S; 10:98459675-98459675 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.901T>G; p.L301V; 10:98721712-98721712 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.771G>A; p.W257*; 10:98743896-98743896 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.901T>G; p.L301V; 10:98721712-98721712 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1660A>G; p.T554A; 10:98459693-98459693 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>T; p.K58N; 10:99235629-99235629 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>T; p.K58N; 10:99235629-99235629 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>T; p.K58N; 10:99235629-99235629 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>T; p.K58N; 10:99235629-99235629 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.177C>T; p.T59T; 10:99235626-99235626 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1691G>A; p.R564Q; 10:98459662-98459662 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1691G>A; p.R564Q; 10:98459662-98459662 |
skin | malignant_melanoma | Substitution - Missense |
c.816G>A; p.R272R; 10:98721797-98721797 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1294G>A; p.V432M; 10:98614930-98614930 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.66A>T; p.L22L; 10:99235737-99235737 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.66A>T; p.L22L; 10:99235737-99235737 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.458G>A; p.R153Q; 10:99144390-99144390 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.272G>A; p.G91D; 10:99235531-99235531 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.923G>A; p.R308Q; 10:98721690-98721690 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.460A>T; p.S154C; 10:99144388-99144388 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.600C>T; p.L200L; 10:99144248-99144248 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1220T>C; p.L407S; 10:98615004-98615004 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.617C>A; p.S206Y; 10:98744050-98744050 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.617C>A; p.S206Y; 10:98744050-98744050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.174G>C; p.K58N; 10:99235629-99235629 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.874C>T; p.P292S; 10:98721739-98721739 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.609A>T; p.T203T; 10:99144239-99144239 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.685C>T; p.R229C; 10:98743982-98743982 |
breast | carcinoma | Substitution - Missense |
c.1232C>A; p.A411D; 10:98614992-98614992 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.1433T>A; p.L478Q; 10:98490084-98490084 |
large_intestine; caecum | adenoma | Substitution - Missense |
c.1020C>A; p.G340G; 10:98641925-98641925 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.595A>G; p.N199D; 10:99144253-99144253 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.396G>C; p.A132A; 10:99232400-99232400 |
liver | carcinoma | Substitution - coding silent |
c.1472A>C; p.N491T; 10:98482777-98482777 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.131G>A; p.R44K; 10:99235672-99235672 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.776T>G; p.L259R; 10:98743891-98743891 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.204G>T; p.K68N; 10:99235599-99235599 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.961A>G; p.M321V; 10:98693943-98693943 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.652G>A; p.G218R; 10:98744015-98744015 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.409G>C; p.G137R; 10:99232387-99232387 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1432C>T; p.L478L; 10:98490085-98490085 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.767C>G; p.S256C; 10:98743900-98743900 |
breast | carcinoma | Substitution - Missense |
c.735G>A; p.L245L; 10:98743932-98743932 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.564_566delTCT; p.L189delL; 10:99144282-99144284 |
lung | carcinoma; small_cell_carcinoma | Deletion - In frame |
c.218C>G; p.T73R; 10:99235585-99235585 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.863G>T; p.S288I; 10:98721750-98721750 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.808C>A; p.H270N; 10:98721805-98721805 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.939C>A; p.V313V; 10:98721674-98721674 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1415G>T; p.R472L; 10:98490102-98490102 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1516C>T; p.R506*; 10:98482733-98482733 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.631T>C; p.Y211H; 10:98744036-98744036 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1516C>T; p.R506*; 10:98482733-98482733 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.631T>C; p.Y211H; 10:98744036-98744036 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.631T>C; p.Y211H; 10:98744036-98744036 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1372G>A; p.A458T; 10:98490145-98490145 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.494A>G; p.K165R; 10:99144354-99144354 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.761A>G; p.N254S; 10:98743906-98743906 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.799C>T; p.R267W; 10:98721814-98721814 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 10:98721814-98721814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 10:98721814-98721814 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.799C>T; p.R267W; 10:98721814-98721814 |
NS | NS | Substitution - Missense |
c.1368C>T; p.V456V; 10:98490149-98490149 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1238A>G; p.Q413R; 10:98614986-98614986 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.688C>T; p.R230C; 10:98743979-98743979 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1382T>C; p.V461A; 10:98490135-98490135 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.880C>T; p.R294W; 10:98721733-98721733 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722C>A; p.A241D; 10:98743945-98743945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1667C>A; p.P556Q; 10:98459686-98459686 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.39C>A; p.S13S; 10:99235764-99235764 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.404G>A; p.R135H; 10:99232392-99232392 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1251C>T; p.V417V; 10:98614973-98614973 |
skin | malignant_melanoma | Substitution - coding silent |
c.1764_1765insC; p.C589fs*>5; 10:98459588-98459589 |
breast | carcinoma | Insertion - Frameshift |
c.1621C>T; p.Q541*; 10:98459732-98459732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.992T>G; p.V331G; 10:98693912-98693912 |
pancreas | carcinoma | Substitution - Missense |
c.1774C>T; p.R592*; 10:98459579-98459579 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.927G>A; p.P309P; 10:98721686-98721686 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.821T>C; p.V274A; 10:98721792-98721792 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1336C>A; p.L446I; 10:98490181-98490181 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1173C>T; p.N391N; 10:98620634-98620634 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.212T>C; p.V71A; 10:99235591-99235591 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.197G>A; p.S66N; 10:99235606-99235606 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.880C>A; p.R294R; 10:98721733-98721733 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.136C>G; p.P46A; 10:99235667-99235667 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682G>A; p.R561H; 10:98459671-98459671 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.479A>T; p.K160I; 10:99144369-99144369 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1682G>A; p.R561H; 10:98459671-98459671 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1682G>A; p.R561H; 10:98459671-98459671 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.13T>A; p.C5S; 10:99235790-99235790 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1260G>T; p.R420R; 10:98614964-98614964 |
liver | carcinoma | Substitution - coding silent |
c.1260G>T; p.R420R; 10:98614964-98614964 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.858G>A; p.L286L; 10:98721755-98721755 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1527G>T; p.K509N; 10:98482722-98482722 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1736A>T; p.Y579F; 10:98459617-98459617 |
breast | carcinoma | Substitution - Missense |
c.907G>T; p.G303C; 10:98721706-98721706 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.6G>A; p.R2R; 10:99235797-99235797 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.698A>C; p.N233T; 10:98743969-98743969 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1673T>C; p.L558S; 10:98459680-98459680 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>T; p.G374*; 10:98620687-98620687 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1406G>A; p.R469Q; 10:98490111-98490111 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1353G>C; p.L451L; 10:98490164-98490164 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1047G>A; p.L349L; 10:98641898-98641898 |
skin | malignant_melanoma | Substitution - coding silent |
c.168_169GG>TT; p.K56>?; 10:99235634-99235635 |
lung | carcinoma; adenocarcinoma | Complex |
c.1034T>G; p.V345G; 10:98641911-98641911 |
breast | carcinoma | Substitution - Missense |
c.1408C>A; p.P470T; 10:98490109-98490109 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.956+2T>C; p.?; 10:98721655-98721655 |
lung | carcinoma; adenocarcinoma | Unknown |
c.744C>T; p.S248S; 10:98743923-98743923 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.618T>C; p.S206S; 10:98744049-98744049 |
liver | carcinoma | Substitution - coding silent |
c.1396C>G; p.R466G; 10:98490121-98490121 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1099-2A>G; p.?; 10:98620710-98620710 |
lung | carcinoma; adenocarcinoma | Unknown |
c.744C>T; p.S248S; 10:98743923-98743923 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.694C>T; p.P232S; 10:98743973-98743973 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.444G>T; p.E148D; 10:99232352-99232352 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1480C>T; p.R494C; 10:98482769-98482769 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1752C>A; p.V584V; 10:98459601-98459601 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1480C>T; p.R494C; 10:98482769-98482769 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.757T>C; p.Y253H; 10:98743910-98743910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.478A>G; p.K160E; 10:99144370-99144370 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1426G>A; p.D476N; 10:98490091-98490091 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.943G>A; p.A315T; 10:98721670-98721670 |
oesophagus | carcinoma | Substitution - Missense |
c.57delC; p.A20fs*3; 10:99235746-99235746 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.57delC; p.A20fs*3; 10:99235746-99235746 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.902T>A; p.L301*; 10:98721711-98721711 |
lung | carcinoma; small_cell_carcinoma | Substitution - Nonsense |
c.1694C>T; p.A565V; 10:98459659-98459659 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1582C>T; p.Q528*; 10:98482667-98482667 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1020C>T; p.G340G; 10:98641925-98641925 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.745G>A; p.A249T; 10:98743922-98743922 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.745G>A; p.A249T; 10:98743922-98743922 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.224A>G; p.N75S; 10:99235579-99235579 |
pancreas | carcinoma | Substitution - Missense |
c.1756G>A; p.A586T; 10:98459597-98459597 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1321-1G>A; p.?; 10:98490197-98490197 |
skin | malignant_melanoma | Unknown |
c.117C>T; p.S39S; 10:99235686-99235686 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.373T>C; p.F125L; 10:99232423-99232423 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |