| Gene ID | 8728 |
| Symbol | ADAM19 |
| Synonymous | FKSG34|MADDAM|MLTNB |
| Full name | ADAM metallopeptidase domain 19 |
| Gene description | ADAM 19|a disintegrin and metalloproteinase domain 19 (meltrin beta)|disintegrin and metalloproteinase domain-containing protein 19|meltrin-beta|metalloprotease and disintegrin dendritic antigen marker|metalloprotease-disintegrin meltrin beta |
| Cytoband | 5q33.3 |
| Gene type | protein-coding |
| Synonymous | MIM:603640; HGNC:HGNC:197; Ensembl:ENSG00000135074; HPRD:04704; Vega:OTTHUMG00000130242 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.682C>T; p.R228*; 5:157513493-157513493 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1312-1G>T; p.?; 5:157499663-157499663 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2159T>C; p.L720P; 5:157490394-157490394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1409C>T; p.A470V; 5:157497082-157497082 |
skin | malignant_melanoma | Substitution - Missense |
c.318C>G; p.T106T; 5:157537928-157537928 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.913A>G; p.M305V; 5:157507136-157507136 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.929C>G; p.T310S; 5:157507120-157507120 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1683T>C; p.G561G; 5:157494710-157494710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1893C>A; p.T631T; 5:157492991-157492991 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.2062G>A; p.G688R; 5:157491651-157491651 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2324G>A; p.R775Q; 5:157489106-157489106 |
skin | malignant_melanoma | Substitution - Missense |
c.2643C>T; p.S881S; 5:157481854-157481854 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1069G>T; p.D357Y; 5:157505733-157505733 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2324G>A; p.R775Q; 5:157489106-157489106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2062G>T; p.G688W; 5:157491651-157491651 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>A; p.V259M; 5:157509434-157509434 |
pancreas | carcinoma | Substitution - Missense |
c.909-1G>C; p.?; 5:157507141-157507141 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1513A>G; p.T505A; 5:157496978-157496978 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>A; p.V259M; 5:157509434-157509434 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.351C>T; p.H117H; 5:157530866-157530866 |
breast | carcinoma | Substitution - coding silent |
c.351C>T; p.H117H; 5:157530866-157530866 |
prostate | carcinoma | Substitution - coding silent |
c.2529_2530insC; p.A844fs*81; 5:157488288-157488289 |
large_intestine; rectum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.403G>T; p.G135*; 5:157530814-157530814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1340C>G; p.S447C; 5:157499634-157499634 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1195T>C; p.S399P; 5:157502919-157502919 |
haematopoietic_and_lymphoid_tissue; soft_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma | Substitution - Missense |
c.2037G>A; p.P679P; 5:157491676-157491676 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1855G>T; p.G619C; 5:157493029-157493029 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.250A>T; p.N84Y; 5:157564377-157564377 |
skin | malignant_melanoma | Substitution - Missense |
c.2462G>A; p.G821E; 5:157488356-157488356 |
skin | malignant_melanoma | Substitution - Missense |
c.1770G>C; p.A590A; 5:157493114-157493114 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.119C>A; p.P40H; 5:157570959-157570959 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.896C>A; p.A299D; 5:157509313-157509313 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2164T>C; p.Y722H; 5:157490389-157490389 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.906C>A; p.I302I; 5:157509303-157509303 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.455C>T; p.P152L; 5:157519987-157519987 |
stomach | carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable | Substitution - Missense |
c.357G>T; p.T119T; 5:157530860-157530860 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1267G>A; p.G423R; 5:157502847-157502847 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1267G>A; p.G423R; 5:157502847-157502847 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1682G>A; p.G561D; 5:157494711-157494711 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.306C>T; p.N102N; 5:157537940-157537940 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.214G>A; p.A72T; 5:157564413-157564413 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2590C>T; p.P864S; 5:157481907-157481907 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1966G>T; p.G656W; 5:157491858-157491858 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.499C>T; p.H167Y; 5:157519943-157519943 |
pancreas | carcinoma | Substitution - Missense |
c.2442G>A; p.R814R; 5:157488376-157488376 |
skin | malignant_melanoma | Substitution - coding silent |
c.2730G>T; p.K910N; 5:157481767-157481767 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.2354G>A; p.R785Q; 5:157488464-157488464 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.98+10C>T; p.?; 5:157575589-157575589 |
liver | carcinoma | Unknown |
c.98+10C>T; p.?; 5:157575589-157575589 |
liver | carcinoma | Unknown |
c.145C>T; p.P49S; 5:157570933-157570933 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2386C>A; p.P796T; 5:157488432-157488432 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.459C>T; p.L153L; 5:157519983-157519983 |
ovary | other; neoplasm | Substitution - coding silent |
c.459C>T; p.L153L; 5:157519983-157519983 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2378G>A; p.R793Q; 5:157488440-157488440 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1925G>A; p.G642E; 5:157491899-157491899 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2378G>A; p.R793Q; 5:157488440-157488440 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.400C>T; p.R134*; 5:157530817-157530817 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1074T>C; p.S358S; 5:157505728-157505728 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1527C>T; p.G509G; 5:157496964-157496964 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2492C>T; p.S831L; 5:157488326-157488326 |
skin | malignant_melanoma | Substitution - Missense |
c.1070A>C; p.D357A; 5:157505732-157505732 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.895G>A; p.A299T; 5:157509314-157509314 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1697G>A; p.C566Y; 5:157494696-157494696 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.404G>A; p.G135E; 5:157530813-157530813 |
skin | malignant_melanoma | Substitution - Missense |
c.255-4G>T; p.?; 5:157537995-157537995 |
pancreas | carcinoma | Unknown |
c.1501C>T; p.Q501*; 5:157496990-157496990 |
skin; face | malignant_melanoma | Substitution - Nonsense |
c.1820G>T; p.R607L; 5:157493064-157493064 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1990-4C>G; p.?; 5:157491727-157491727 |
prostate | carcinoma | Unknown |
c.2528C>A; p.P843H; 5:157488290-157488290 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2453A>G; p.N818S; 5:157488365-157488365 |
skin | malignant_melanoma | Substitution - Missense |
c.2036C>T; p.P679L; 5:157491677-157491677 |
liver | carcinoma | Substitution - Missense |
c.517G>A; p.G173R; 5:157519925-157519925 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2036C>T; p.P679L; 5:157491677-157491677 |
liver | carcinoma | Substitution - Missense |
c.1561A>G; p.T521A; 5:157496930-157496930 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.226G>T; p.E76*; 5:157564401-157564401 |
breast | carcinoma | Substitution - Nonsense |
c.407T>C; p.I136T; 5:157530810-157530810 |
breast | carcinoma | Substitution - Missense |
c.1356G>T; p.R452S; 5:157499618-157499618 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.622A>C; p.N208H; 5:157518870-157518870 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.294T>G; p.T98T; 5:157537952-157537952 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.133G>A; p.E45K; 5:157570945-157570945 |
skin | malignant_melanoma | Substitution - Missense |
c.1830C>A; p.H610Q; 5:157493054-157493054 |
pancreas | NS | Substitution - Missense |
c.2464C>A; p.P822T; 5:157488354-157488354 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2456C>T; p.S819F; 5:157488362-157488362 |
skin | malignant_melanoma | Substitution - Missense |
c.487T>A; p.Y163N; 5:157519955-157519955 |
ovary | other; neoplasm | Substitution - Missense |
c.161C>T; p.S54L; 5:157570917-157570917 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1273C>G; p.L425V; 5:157502841-157502841 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.487T>A; p.Y163N; 5:157519955-157519955 |
ovary | other; neoplasm | Substitution - Missense |
c.487T>A; p.Y163N; 5:157519955-157519955 |
ovary | other; neoplasm | Substitution - Missense |
c.161C>T; p.S54L; 5:157570917-157570917 |
skin | malignant_melanoma | Substitution - Missense |
c.1505T>A; p.M502K; 5:157496986-157496986 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2013C>T; p.C671C; 5:157491700-157491700 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1439G>T; p.R480M; 5:157497052-157497052 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.532G>A; p.E178K; 5:157519910-157519910 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1050C>A; p.H350Q; 5:157505752-157505752 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1050C>A; p.H350Q; 5:157505752-157505752 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.593G>T; p.R198L; 5:157519849-157519849 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2256G>T; p.R752S; 5:157489174-157489174 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1770_1771GG>AA; p.V591M; 5:157493113-157493114 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2583G>T; p.K861N; 5:157481914-157481914 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1759G>T; p.E587*; 5:157493125-157493125 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.947C>T; p.P316L; 5:157507102-157507102 |
skin | malignant_melanoma | Substitution - Missense |
c.1357C>T; p.P453S; 5:157499617-157499617 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.845C>A; p.S282Y; 5:157509364-157509364 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.908+3A>T; p.?; 5:157509298-157509298 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Unknown |
c.853A>G; p.S285G; 5:157509356-157509356 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1755C>G; p.P585P; 5:157493129-157493129 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2350C>T; p.L784L; 5:157488468-157488468 |
skin | malignant_melanoma | Substitution - coding silent |
c.908+1G>C; p.?; 5:157509300-157509300 |
lung | carcinoma; adenocarcinoma | Unknown |
c.1935G>A; p.R645R; 5:157491889-157491889 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1935G>A; p.R645R; 5:157491889-157491889 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2698G>A; p.A900T; 5:157481799-157481799 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2548T>C; p.S850P; 5:157488270-157488270 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.871C>G; p.L291V; 5:157509338-157509338 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1598G>A; p.G533E; 5:157494795-157494795 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1402C>T; p.L468L; 5:157497089-157497089 |
skin | malignant_melanoma | Substitution - coding silent |
c.1612C>T; p.P538S; 5:157494781-157494781 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.147T>C; p.P49P; 5:157570931-157570931 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.862C>T; p.R288C; 5:157509347-157509347 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2488G>A; p.E830K; 5:157488330-157488330 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2488G>A; p.E830K; 5:157488330-157488330 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.897C>A; p.A299A; 5:157509312-157509312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2128G>A; p.V710M; 5:157490425-157490425 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1534G>A; p.A512T; 5:157496957-157496957 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1801G>A; p.G601R; 5:157493083-157493083 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1938C>A; p.N646K; 5:157491886-157491886 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>T; p.S99L; 5:157537950-157537950 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.405A>T; p.G135G; 5:157530812-157530812 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1601C>A; p.A534D; 5:157494792-157494792 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2516G>A; p.R839Q; 5:157488302-157488302 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2073C>T; p.I691I; 5:157491640-157491640 |
skin | malignant_melanoma | Substitution - coding silent |
c.2664T>G; p.A888A; 5:157481833-157481833 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1879G>A; p.V627M; 5:157493005-157493005 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1170G>A; p.R390R; 5:157502944-157502944 |
skin | malignant_melanoma | Substitution - coding silent |
c.1049A>G; p.H350R; 5:157505753-157505753 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1440G>T; p.R480S; 5:157497051-157497051 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1266C>A; p.N422K; 5:157502848-157502848 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.688G>C; p.D230H; 5:157513487-157513487 |
skin | malignant_melanoma | Substitution - Missense |
c.688G>C; p.D230H; 5:157513487-157513487 |
skin | malignant_melanoma | Substitution - Missense |
c.2310G>A; p.T770T; 5:157489120-157489120 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2310G>A; p.T770T; 5:157489120-157489120 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.2310G>A; p.T770T; 5:157489120-157489120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2310G>A; p.T770T; 5:157489120-157489120 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.925G>A; p.G309S; 5:157507124-157507124 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1210T>A; p.C404S; 5:157502904-157502904 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2306A>G; p.Q769R; 5:157489124-157489124 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.592C>T; p.R198*; 5:157519850-157519850 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.539C>G; p.S180C; 5:157519903-157519903 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.742-7C>T; p.?; 5:157509474-157509474 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.510G>A; p.P170P; 5:157519932-157519932 |
oesophagus | carcinoma | Substitution - coding silent |
c.1401+8G>A; p.?; 5:157499565-157499565 |
liver | carcinoma | Unknown |
c.2633G>A; p.G878E; 5:157481864-157481864 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1099G>A; p.A367T; 5:157505703-157505703 |
liver | carcinoma | Substitution - Missense |
c.1099G>A; p.A367T; 5:157505703-157505703 |
liver | carcinoma | Substitution - Missense |
c.123G>T; p.K41N; 5:157570955-157570955 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.417G>A; p.L139L; 5:157520025-157520025 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.356C>T; p.T119M; 5:157530861-157530861 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.356C>T; p.T119M; 5:157530861-157530861 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1657G>A; p.G553R; 5:157494736-157494736 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.356C>T; p.T119M; 5:157530861-157530861 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.460C>T; p.P154S; 5:157519982-157519982 |
skin | malignant_melanoma | Substitution - Missense |
c.1675A>T; p.M559L; 5:157494718-157494718 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.2160G>T; p.L720L; 5:157490393-157490393 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.99A>G; p.K33K; 5:157570979-157570979 |
breast | carcinoma | Substitution - coding silent |
c.1360G>A; p.G454R; 5:157499614-157499614 |
skin | malignant_melanoma | Substitution - Missense |
c.2382C>A; p.P794P; 5:157488436-157488436 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1758G>T; p.L586L; 5:157493126-157493126 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2515C>T; p.R839W; 5:157488303-157488303 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.603G>T; p.R201S; 5:157519839-157519839 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1252C>T; p.R418W; 5:157502862-157502862 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.401G>A; p.R134Q; 5:157530816-157530816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.401G>A; p.R134Q; 5:157530816-157530816 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.586A>G; p.K196E; 5:157519856-157519856 |
liver | carcinoma | Substitution - Missense |
c.260T>G; p.L87R; 5:157537986-157537986 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2530G>A; p.A844T; 5:157488288-157488288 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2122G>T; p.V708L; 5:157490431-157490431 |
skin | malignant_melanoma | Substitution - Missense |
c.509C>T; p.P170L; 5:157519933-157519933 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2248C>T; p.P750S; 5:157489182-157489182 |
skin | malignant_melanoma | Substitution - Missense |
c.509C>T; p.P170L; 5:157519933-157519933 |
pancreas | carcinoma | Substitution - Missense |
c.1505T>C; p.M502T; 5:157496986-157496986 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.307C>T; p.P103S; 5:157537939-157537939 |
skin | malignant_melanoma | Substitution - Missense |
c.1947C>A; p.F649L; 5:157491877-157491877 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.585C>A; p.T195T; 5:157519857-157519857 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1432C>G; p.Q478E; 5:157497059-157497059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.593G>A; p.R198Q; 5:157519849-157519849 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.307C>A; p.P103T; 5:157537939-157537939 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2451G>A; p.R817R; 5:157488367-157488367 |
skin | malignant_melanoma | Substitution - coding silent |
c.2492C>A; p.S831*; 5:157488326-157488326 |
lung | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2506C>T; p.P836S; 5:157488312-157488312 |
skin | malignant_melanoma | Substitution - Missense |
c.556G>A; p.D186N; 5:157519886-157519886 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.561G>T; p.W187C; 5:157519881-157519881 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2053C>A; p.P685T; 5:157491660-157491660 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.531C>T; p.F177F; 5:157519911-157519911 |
skin | malignant_melanoma | Substitution - coding silent |
c.2483G>A; p.R828K; 5:157488335-157488335 |
skin | malignant_melanoma | Substitution - Missense |
c.786A>G; p.E262E; 5:157509423-157509423 |
skin; abdomen | malignant_melanoma | Substitution - coding silent |
c.2376C>A; p.P792P; 5:157488442-157488442 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2174G>T; p.C725F; 5:157490379-157490379 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.658G>C; p.D220H; 5:157518834-157518834 |
breast | carcinoma | Substitution - Missense |
c.1717T>C; p.C573R; 5:157493167-157493167 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1038C>T; p.H346H; 5:157505764-157505764 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2414C>T; p.P805L; 5:157488404-157488404 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2684C>T; p.P895L; 5:157481813-157481813 |
skin | malignant_melanoma | Substitution - Missense |
c.2172C>T; p.C724C; 5:157490381-157490381 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2467G>A; p.G823R; 5:157488351-157488351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1247G>T; p.G416V; 5:157502867-157502867 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1507G>T; p.D503Y; 5:157496984-157496984 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2148G>A; p.A716A; 5:157490405-157490405 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.909G>T; p.T303T; 5:157507140-157507140 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1562_1563CC>TT; p.T521I; 5:157496928-157496929 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.353G>T; p.G118V; 5:157530864-157530864 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.718G>T; p.E240*; 5:157513457-157513457 |
pancreas | carcinoma | Substitution - Nonsense |
c.2086A>G; p.M696V; 5:157491627-157491627 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1713G>A; p.A571A; 5:157493171-157493171 |
skin | malignant_melanoma | Substitution - coding silent |
c.2122G>A; p.V708M; 5:157490431-157490431 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2053C>T; p.P685S; 5:157491660-157491660 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1629G>A; p.E543E; 5:157494764-157494764 |
breast | carcinoma | Substitution - coding silent |
c.2172C>A; p.C724*; 5:157490381-157490381 |
stomach | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1773G>A; p.V591V; 5:157493111-157493111 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1017C>A; p.G339G; 5:157505785-157505785 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1712C>T; p.A571V; 5:157493172-157493172 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1475C>T; p.S492F; 5:157497016-157497016 |
skin | malignant_melanoma | Substitution - Missense |
c.1838G>A; p.R613Q; 5:157493046-157493046 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1078G>A; p.D360N; 5:157505724-157505724 |
skin | malignant_melanoma | Substitution - Missense |
c.2545G>A; p.V849I; 5:157488273-157488273 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2383C>A; p.P795T; 5:157488435-157488435 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1794C>A; p.I598I; 5:157493090-157493090 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1436C>T; p.A479V; 5:157497055-157497055 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1213C>T; p.L405F; 5:157502901-157502901 |
skin | malignant_melanoma | Substitution - Missense |
c.1626C>T; p.F542F; 5:157494767-157494767 |
skin | malignant_melanoma | Substitution - coding silent |
c.109G>A; p.E37K; 5:157570969-157570969 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |