| Gene ID | 6403 |
| Symbol | SELP |
| Synonymous | CD62|CD62P|GMP140|GRMP|LECAM3|PADGEM|PSEL |
| Full name | selectin P (granule membrane protein 140kDa, antigen CD62) |
| Gene description | CD62 antigen-like family member P|GMP-140|P-selectin|granule membrane protein 140|granulocyte membrane protein|leukocyte-endothelial cell adhesion molecule 3|platelet activation dependent granule-external membrane protein|platelet alpha-granule membrane p |
| Cytoband | 1q24.2 |
| Gene type | protein-coding |
| Synonymous | MIM:173610; HGNC:HGNC:10721; Ensembl:ENSG00000174175; HPRD:01433; Vega:OTTHUMG00000034685 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.305C>T; p.T102I; 1:169617204-169617204 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.723G>A; p.K241K; 1:169612981-169612981 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.723G>A; p.K241K; 1:169612981-169612981 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.380A>G; p.N127S; 1:169617129-169617129 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.723G>A; p.K241K; 1:169612981-169612981 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1390C>T; p.P464S; 1:169607078-169607078 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.138C>T; p.Y46Y; 1:169617371-169617371 |
skin | malignant_melanoma | Substitution - coding silent |
c.205G>A; p.A69T; 1:169617304-169617304 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1916G>A; p.G639E; 1:169596110-169596110 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.70C>T; p.L24F; 1:169619153-169619153 |
breast | carcinoma | Substitution - Missense |
c.1916G>A; p.G639E; 1:169596110-169596110 |
skin | malignant_melanoma | Substitution - Missense |
c.1371C>A; p.A457A; 1:169607097-169607097 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.155C>G; p.S52*; 1:169617354-169617354 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.1344C>A; p.C448*; 1:169607124-169607124 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.875G>A; p.C292Y; 1:169612303-169612303 |
breast | carcinoma | Substitution - Missense |
c.929G>T; p.G310V; 1:169612249-169612249 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.153C>T; p.Y51Y; 1:169617356-169617356 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2287G>A; p.A763T; 1:169594692-169594692 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.549C>A; p.C183*; 1:169613626-169613626 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.351G>A; p.W117*; 1:169617158-169617158 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.847C>T; p.Q283*; 1:169612331-169612331 |
skin | malignant_melanoma | Substitution - Nonsense |
c.2015G>C; p.C672S; 1:169596011-169596011 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.847C>T; p.Q283*; 1:169612331-169612331 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.351G>C; p.W117C; 1:169617158-169617158 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.88A>T; p.I30F; 1:169619135-169619135 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1666C>T; p.R556*; 1:169603065-169603065 |
skin; upper_back | malignant_melanoma | Substitution - Nonsense |
c.1666C>T; p.R556*; 1:169603065-169603065 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1341G>T; p.Q447H; 1:169607127-169607127 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.671C>T; p.S224L; 1:169613033-169613033 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1293T>C; p.D431D; 1:169609544-169609544 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2066C>T; p.S689L; 1:169595960-169595960 |
ovary | other; neoplasm | Substitution - Missense |
c.2114C>A; p.S705*; 1:169594865-169594865 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.936G>A; p.W312*; 1:169612242-169612242 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.489_490delCC; p.C163fs*1; 1:169613685-169613686 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.2066C>T; p.S689L; 1:169595960-169595960 |
ovary | other; neoplasm | Substitution - Missense |
c.1828G>A; p.G610R; 1:169597054-169597054 |
skin | malignant_melanoma | Substitution - Missense |
c.1250C>A; p.A417D; 1:169609587-169609587 |
kidney | other; neoplasm | Substitution - Missense |
c.330C>T; p.L110L; 1:169617179-169617179 |
skin | malignant_melanoma | Substitution - coding silent |
c.812G>A; p.G271E; 1:169612366-169612366 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1962C>T; p.Y654Y; 1:169596064-169596064 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1157G>T; p.C386F; 1:169609680-169609680 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1487G>A; p.G496E; 1:169606981-169606981 |
skin | malignant_melanoma | Substitution - Missense |
c.1205C>T; p.S402F; 1:169609632-169609632 |
skin | malignant_melanoma | Substitution - Missense |
c.1131C>A; p.P377P; 1:169611508-169611508 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2131A>G; p.K711E; 1:169594848-169594848 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1652G>T; p.R551I; 1:169603079-169603079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1972C>T; p.H658Y; 1:169596054-169596054 |
skin | malignant_melanoma | Substitution - Missense |
c.1504C>T; p.P502S; 1:169606964-169606964 |
skin | malignant_melanoma | Substitution - Missense |
c.2470G>A; p.A824T; 1:169590171-169590171 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.893T>G; p.L298*; 1:169612285-169612285 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1348G>T; p.D450Y; 1:169607120-169607120 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1348G>T; p.D450Y; 1:169607120-169607120 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1812C>T; p.N604N; 1:169597070-169597070 |
thyroid | other; neoplasm | Substitution - coding silent |
c.378G>A; p.R126R; 1:169617131-169617131 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1276G>A; p.D426N; 1:169609561-169609561 |
skin | malignant_melanoma | Substitution - Missense |
c.1143T>C; p.C381C; 1:169611496-169611496 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1093A>G; p.M365V; 1:169611546-169611546 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.833C>T; p.S278F; 1:169612345-169612345 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.415C>T; p.P139S; 1:169617094-169617094 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.415C>T; p.P139S; 1:169617094-169617094 |
skin | malignant_melanoma | Substitution - Missense |
c.1823T>A; p.L608Q; 1:169597059-169597059 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.525C>T; p.L175L; 1:169613650-169613650 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.397G>A; p.E133K; 1:169617112-169617112 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2361G>T; p.M787I; 1:169593651-169593651 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2090C>A; p.P697Q; 1:169595936-169595936 |
breast | carcinoma | Substitution - Missense |
c.2345C>A; p.T782K; 1:169593667-169593667 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351G>T; p.W117C; 1:169617158-169617158 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2165G>A; p.G722E; 1:169594814-169594814 |
skin | malignant_melanoma | Substitution - Missense |
c.44G>C; p.R15T; 1:169619179-169619179 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.187C>T; p.R63C; 1:169617322-169617322 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.187C>T; p.R63C; 1:169617322-169617322 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2272G>A; p.V758M; 1:169594707-169594707 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.388G>A; p.D130N; 1:169617121-169617121 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.187C>T; p.R63C; 1:169617322-169617322 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.187C>T; p.R63C; 1:169617322-169617322 |
skin | malignant_melanoma | Substitution - Missense |
c.242A>G; p.K81R; 1:169617267-169617267 |
skin | malignant_melanoma | Substitution - Missense |
c.273G>A; p.W91*; 1:169617236-169617236 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1035C>T; p.A345A; 1:169611604-169611604 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1967G>T; p.R656M; 1:169596059-169596059 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1986T>C; p.F662F; 1:169596040-169596040 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1392C>A; p.P464P; 1:169607076-169607076 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1892-1G>A; p.?; 1:169596135-169596135 |
skin | malignant_melanoma | Unknown |
c.404A>G; p.Y135C; 1:169617105-169617105 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2151C>A; p.C717*; 1:169594828-169594828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1555G>A; p.G519R; 1:169603176-169603176 |
skin | malignant_melanoma | Substitution - Missense |
c.1690C>A; p.P564T; 1:169603041-169603041 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1192G>T; p.D398Y; 1:169609645-169609645 |
breast | carcinoma | Substitution - Missense |
c.2342C>A; p.S781Y; 1:169593670-169593670 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2249A>G; p.E750G; 1:169594730-169594730 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.1955C>G; p.T652S; 1:169596071-169596071 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1099C>T; p.R367C; 1:169611540-169611540 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1786T>C; p.S596P; 1:169597096-169597096 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.588C>T; p.Y196Y; 1:169613587-169613587 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.999A>C; p.G333G; 1:169611640-169611640 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.652G>A; p.G218R; 1:169613052-169613052 |
skin | malignant_melanoma | Substitution - Missense |
c.797A>C; p.K266T; 1:169612381-169612381 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1563G>T; p.M521I; 1:169603168-169603168 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537T>C; p.L513L; 1:169603194-169603194 |
pleura | pulmonary_blastoma | Substitution - coding silent |
c.1164G>A; p.P388P; 1:169609673-169609673 |
pancreas | carcinoma; ductal_carcinoma | Substitution - coding silent |
c.1164G>A; p.P388P; 1:169609673-169609673 |
pancreas | carcinoma | Substitution - coding silent |
c.903G>A; p.P301P; 1:169612275-169612275 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2163G>C; p.W721C; 1:169594816-169594816 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.829C>A; p.H277N; 1:169612349-169612349 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1876C>A; p.P626T; 1:169597006-169597006 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2361G>A; p.M787I; 1:169593651-169593651 |
skin | malignant_melanoma | Substitution - Missense |
c.992G>A; p.S331N; 1:169611647-169611647 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.992G>A; p.S331N; 1:169611647-169611647 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2271C>T; p.T757T; 1:169594708-169594708 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.979C>A; p.L327M; 1:169611660-169611660 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.18A>G; p.I6M; 1:169619205-169619205 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1285C>T; p.R429W; 1:169609552-169609552 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1285C>T; p.R429W; 1:169609552-169609552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1285C>T; p.R429W; 1:169609552-169609552 |
breast | carcinoma | Substitution - Missense |
c.1285C>T; p.R429W; 1:169609552-169609552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1285C>T; p.R429W; 1:169609552-169609552 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.526G>C; p.E176Q; 1:169613649-169613649 |
breast | carcinoma | Substitution - Missense |
c.153C>A; p.Y51*; 1:169617356-169617356 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.127A>T; p.T43S; 1:169617382-169617382 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.435G>A; p.W145*; 1:169617074-169617074 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1179C>T; p.V393V; 1:169609658-169609658 |
breast | carcinoma | Substitution - coding silent |
c.978C>A; p.H326Q; 1:169611661-169611661 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.384C>T; p.N128N; 1:169617125-169617125 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.928G>T; p.G310W; 1:169612250-169612250 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1951G>A; p.G651R; 1:169596075-169596075 |
skin | malignant_melanoma | Substitution - Missense |
c.726G>A; p.L242L; 1:169612978-169612978 |
skin | malignant_melanoma | Substitution - coding silent |
c.2092G>C; p.A698P; 1:169595934-169595934 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.393C>T; p.C131C; 1:169617116-169617116 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1122G>A; p.W374*; 1:169611517-169611517 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1918G>T; p.V640L; 1:169596108-169596108 |
skin | malignant_melanoma | Substitution - Missense |
c.1250C>T; p.A417V; 1:169609587-169609587 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098C>T; p.L366L; 1:169611541-169611541 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1138A>T; p.T380S; 1:169611501-169611501 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1215G>T; p.A405A; 1:169609622-169609622 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1593T>C; p.S531S; 1:169603138-169603138 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2055C>G; p.S685R; 1:169595971-169595971 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.169C>T; p.R57C; 1:169617340-169617340 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.943C>A; p.P315T; 1:169612235-169612235 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1675C>T; p.R559C; 1:169603056-169603056 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.629T>C; p.L210P; 1:169613075-169613075 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1675C>T; p.R559C; 1:169603056-169603056 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.264C>A; p.S88S; 1:169617245-169617245 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.62C>T; p.S21F; 1:169619161-169619161 |
breast | carcinoma | Substitution - Missense |
c.2420G>T; p.C807F; 1:169591444-169591444 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.62C>T; p.S21F; 1:169619161-169619161 |
skin | malignant_melanoma | Substitution - Missense |
c.432G>A; p.K144K; 1:169617077-169617077 |
skin | malignant_melanoma | Substitution - coding silent |
c.1876C>T; p.P626S; 1:169597006-169597006 |
skin | malignant_melanoma | Substitution - Missense |
c.2031A>G; p.T677T; 1:169595995-169595995 |
liver | carcinoma | Substitution - coding silent |
c.2031A>G; p.T677T; 1:169595995-169595995 |
liver | carcinoma | Substitution - coding silent |
c.943C>T; p.P315S; 1:169612235-169612235 |
skin | malignant_melanoma | Substitution - Missense |
c.941C>A; p.A314D; 1:169612237-169612237 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.906A>G; p.E302E; 1:169612272-169612272 |
skin | malignant_melanoma | Substitution - coding silent |
c.2203C>A; p.L735I; 1:169594776-169594776 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.518A>G; p.E173G; 1:169613657-169613657 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2438G>T; p.S813I; 1:169591426-169591426 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1372C>T; p.R458W; 1:169607096-169607096 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.902C>T; p.P301L; 1:169612276-169612276 |
breast | carcinoma | Substitution - Missense |
c.2201G>A; p.C734Y; 1:169594778-169594778 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.217A>T; p.K73*; 1:169617292-169617292 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Nonsense |
c.243G>A; p.K81K; 1:169617266-169617266 |
skin | malignant_melanoma | Substitution - coding silent |
c.534C>A; p.I178I; 1:169613641-169613641 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.243G>A; p.K81K; 1:169617266-169617266 |
skin | malignant_melanoma | Substitution - coding silent |
c.217A>T; p.K73*; 1:169617292-169617292 |
liver | carcinoma | Substitution - Nonsense |
c.2126T>C; p.V709A; 1:169594853-169594853 |
breast | carcinoma | Substitution - Missense |
c.424_425CC>AA; p.P142>?; 1:169617084-169617085 |
lung | carcinoma; adenocarcinoma | Complex |
c.1765C>A; p.R589S; 1:169597117-169597117 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2383C>T; p.L795L; 1:169593629-169593629 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.51C>A; p.V17V; 1:169619172-169619172 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.534C>T; p.I178I; 1:169613641-169613641 |
skin | malignant_melanoma | Substitution - coding silent |
c.534C>T; p.I178I; 1:169613641-169613641 |
skin | malignant_melanoma | Substitution - coding silent |
c.170G>A; p.R57H; 1:169617339-169617339 |
pituitary; craniopharyngeal_duct | craniopharyngioma; adamantinomatous | Substitution - Missense |
c.1219C>T; p.Q407*; 1:169609618-169609618 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1628G>A; p.G543E; 1:169603103-169603103 |
skin | malignant_melanoma | Substitution - Missense |
c.2393G>A; p.R798H; 1:169593619-169593619 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.223G>A; p.E75K; 1:169617286-169617286 |
skin | malignant_melanoma | Substitution - Missense |
c.223G>A; p.E75K; 1:169617286-169617286 |
skin | malignant_melanoma | Substitution - Missense |
c.229G>A; p.D77N; 1:169617280-169617280 |
skin | malignant_melanoma | Substitution - Missense |
c.1154C>T; p.S385L; 1:169609683-169609683 |
skin | malignant_melanoma | Substitution - Missense |
c.1154C>T; p.S385L; 1:169609683-169609683 |
skin | malignant_melanoma | Substitution - Missense |
c.1154C>T; p.S385L; 1:169609683-169609683 |
skin | malignant_melanoma | Substitution - Missense |
c.2450C>G; p.T817R; 1:169590191-169590191 |
central_nervous_system; brainstem | glioma; oligoastrocytoma_Grade_III | Substitution - Missense |
c.1154C>T; p.S385L; 1:169609683-169609683 |
skin | malignant_melanoma | Substitution - Missense |
c.1154C>T; p.S385L; 1:169609683-169609683 |
skin | malignant_melanoma | Substitution - Missense |
c.1154C>T; p.S385L; 1:169609683-169609683 |
skin | malignant_melanoma | Substitution - Missense |
c.2343T>C; p.S781S; 1:169593669-169593669 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2493A>C; p.*831Y; 1:169590148-169590148 |
stomach | carcinoma; adenocarcinoma | Nonstop extension |
c.2414G>A; p.G805E; 1:169591450-169591450 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1787C>T; p.S596F; 1:169597095-169597095 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.241A>G; p.K81E; 1:169617268-169617268 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.170G>T; p.R57L; 1:169617339-169617339 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1491C>G; p.N497K; 1:169606977-169606977 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1076G>C; p.R359T; 1:169611563-169611563 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1456G>A; p.G486R; 1:169607012-169607012 |
skin | malignant_melanoma | Substitution - Missense |
c.345G>T; p.E115D; 1:169617164-169617164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.483C>T; p.A161A; 1:169613692-169613692 |
skin | malignant_melanoma | Substitution - coding silent |
c.7A>C; p.N3H; 1:169619216-169619216 |
skin | malignant_melanoma | Substitution - Missense |
c.371A>T; p.N124I; 1:169617138-169617138 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.877G>A; p.E293K; 1:169612301-169612301 |
skin | malignant_melanoma | Substitution - Missense |
c.1725C>T; p.L575L; 1:169597157-169597157 |
skin | malignant_melanoma | Substitution - coding silent |
c.132T>A; p.Y44*; 1:169617377-169617377 |
salivary_gland | carcinoma; adenoid_cystic_carcinoma | Substitution - Nonsense |
c.1328G>C; p.C443S; 1:169609509-169609509 |
breast | carcinoma | Substitution - Missense |
c.649C>A; p.L217M; 1:169613055-169613055 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.408C>A; p.I136I; 1:169617101-169617101 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1530C>A; p.C510*; 1:169603201-169603201 |
breast | carcinoma | Substitution - Nonsense |
c.872G>T; p.S291I; 1:169612306-169612306 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.337G>A; p.E113K; 1:169617172-169617172 |
skin | malignant_melanoma | Substitution - Missense |
c.2142G>A; p.A714A; 1:169594837-169594837 |
skin | malignant_melanoma | Substitution - coding silent |
c.934T>G; p.W312G; 1:169612244-169612244 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia | Substitution - Missense |
c.781C>A; p.Q261K; 1:169612397-169612397 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2392C>T; p.R798C; 1:169593620-169593620 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2392C>T; p.R798C; 1:169593620-169593620 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2373C>T; p.L791L; 1:169593639-169593639 |
skin | malignant_melanoma | Substitution - coding silent |
c.2151C>T; p.C717C; 1:169594828-169594828 |
oesophagus | carcinoma | Substitution - coding silent |
c.2456G>A; p.G819E; 1:169590185-169590185 |
skin | malignant_melanoma | Substitution - Missense |
c.1652G>A; p.R551K; 1:169603079-169603079 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.998G>A; p.G333E; 1:169611641-169611641 |
skin | malignant_melanoma | Substitution - Missense |
c.785G>A; p.C262Y; 1:169612393-169612393 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.998G>A; p.G333E; 1:169611641-169611641 |
skin | malignant_melanoma | Substitution - Missense |
c.759G>A; p.K253K; 1:169612945-169612945 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1081A>G; p.R361G; 1:169611558-169611558 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1786T>A; p.S596T; 1:169597096-169597096 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2369C>T; p.T790M; 1:169593643-169593643 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2459T>G; p.V820G; 1:169590182-169590182 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2369C>T; p.T790M; 1:169593643-169593643 |
stomach | adenocarcinoma | Substitution - Missense |
c.733T>G; p.L245V; 1:169612971-169612971 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1028C>A; p.A343D; 1:169611611-169611611 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1334-3T>A; p.?; 1:169607137-169607137 |
liver | carcinoma | Unknown |
c.2372T>C; p.L791P; 1:169593640-169593640 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2345C>T; p.T782M; 1:169593667-169593667 |
breast | carcinoma | Substitution - Missense |
c.416C>T; p.P139L; 1:169617093-169617093 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.416C>T; p.P139L; 1:169617093-169617093 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.416C>T; p.P139L; 1:169617093-169617093 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1665T>C; p.T555T; 1:169603066-169603066 |
skin | malignant_melanoma | Substitution - coding silent |
c.1465G>A; p.V489M; 1:169607003-169607003 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.829C>T; p.H277Y; 1:169612349-169612349 |
skin | malignant_melanoma | Substitution - Missense |
c.802C>T; p.P268S; 1:169612376-169612376 |
skin | malignant_melanoma | Substitution - Missense |
c.1657G>T; p.D553Y; 1:169603074-169603074 |
prostate | adenoma | Substitution - Missense |
c.200T>G; p.L67*; 1:169617309-169617309 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.2402A>G; p.Q801R; 1:169593610-169593610 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.149C>A; p.A50E; 1:169617360-169617360 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2206G>C; p.E736Q; 1:169594773-169594773 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.394G>T; p.V132L; 1:169617115-169617115 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1079T>G; p.V360G; 1:169611560-169611560 |
skin | malignant_melanoma | Substitution - Missense |
c.1976C>T; p.P659L; 1:169596050-169596050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1677C>T; p.R559R; 1:169603054-169603054 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1545C>T; p.S515S; 1:169603186-169603186 |
skin | malignant_melanoma | Substitution - coding silent |
c.2407G>A; p.D803N; 1:169593605-169593605 |
skin | malignant_melanoma | Substitution - Missense |
c.1808A>G; p.D603G; 1:169597074-169597074 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2346G>A; p.T782T; 1:169593666-169593666 |
thyroid | other; neoplasm | Substitution - coding silent |
c.1583G>A; p.G528E; 1:169603148-169603148 |
skin | malignant_melanoma | Substitution - Missense |
c.1158T>A; p.C386*; 1:169609679-169609679 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.454A>G; p.K152E; 1:169617055-169617055 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2026T>A; p.F676I; 1:169596000-169596000 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1183G>C; p.G395R; 1:169609654-169609654 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1191G>A; p.M397I; 1:169609646-169609646 |
skin | malignant_melanoma | Substitution - Missense |
c.1589C>T; p.S530F; 1:169603142-169603142 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |