| Gene ID | 1234 |
| Symbol | CCR5 |
| Synonymous | CC-CKR-5|CCCKR5|CCR-5|CD195|CKR-5|CKR5|CMKBR5|IDDM22 |
| Full name | chemokine (C-C motif) receptor 5 (gene/pseudogene) |
| Gene description | C-C chemokine receptor type 5|C-C motif chemokine receptor 5 A159A|HIV-1 fusion coreceptor|chemokine receptor CCR5|chemr13 |
| Cytoband | 3p21.31 |
| Gene type | protein-coding |
| Synonymous | MIM:601373; HGNC:HGNC:1606; HPRD:03223 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.197A>G; p.D66G; 3:46373099-46373099 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.863C>T; p.T288M; 3:46373765-46373765 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.863C>T; p.T288M; 3:46373765-46373765 |
pancreas | carcinoma | Substitution - Missense |
c.10C>G; p.Q4E; 3:46372912-46372912 |
ovary | other; neoplasm | Substitution - Missense |
c.541C>A; p.H181N; 3:46373443-46373443 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.862A>G; p.T288A; 3:46373764-46373764 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.342T>C; p.S114S; 3:46373244-46373244 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.56C>G; p.P19R; 3:46372958-46372958 |
skin | malignant_melanoma | Substitution - Missense |
c.283G>A; p.D95N; 3:46373185-46373185 |
skin | malignant_melanoma | Substitution - Missense |
c.205C>A; p.L69M; 3:46373107-46373107 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.573G>C; p.K191N; 3:46373475-46373475 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.51G>A; p.S17S; 3:46372953-46372953 |
skin | malignant_melanoma | Substitution - coding silent |
c.375T>A; p.D125E; 3:46373277-46373277 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.456T>A; p.T152T; 3:46373358-46373358 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.456T>A; p.T152T; 3:46373358-46373358 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.456T>A; p.T152T; 3:46373358-46373358 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.733T>G; p.F245V; 3:46373635-46373635 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.876C>T; p.I292I; 3:46373778-46373778 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1045T>G; p.S349A; 3:46373947-46373947 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.705G>A; p.R235R; 3:46373607-46373607 |
skin | malignant_melanoma | Substitution - coding silent |
c.360C>T; p.I120I; 3:46373262-46373262 |
skin | malignant_melanoma | Substitution - coding silent |
c.573G>A; p.K191K; 3:46373475-46373475 |
skin | malignant_melanoma | Substitution - coding silent |
c.237C>T; p.F79F; 3:46373139-46373139 |
skin | malignant_melanoma | Substitution - coding silent |
c.561T>A; p.Y187*; 3:46373463-46373463 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.237C>T; p.F79F; 3:46373139-46373139 |
skin | malignant_melanoma | Substitution - coding silent |
c.198C>T; p.D66D; 3:46373100-46373100 |
ovary | other; neoplasm | Substitution - coding silent |
c.237C>T; p.F79F; 3:46373139-46373139 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.503G>A; p.R168K; 3:46373405-46373405 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.503G>A; p.R168K; 3:46373405-46373405 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.503G>A; p.R168K; 3:46373405-46373405 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.950C>T; p.A317V; 3:46373852-46373852 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.250C>A; p.P84T; 3:46373152-46373152 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.241C>A; p.L81I; 3:46373143-46373143 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.582G>T; p.Q194H; 3:46373484-46373484 |
soft_tissue; striated_muscle | Overgrowth_syndrome | Substitution - Missense |
c.582G>T; p.Q194H; 3:46373484-46373484 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>T; p.Q194H; 3:46373484-46373484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>T; p.Q194H; 3:46373484-46373484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>T; p.Q194H; 3:46373484-46373484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.582G>T; p.Q194H; 3:46373484-46373484 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.23C>T; p.P8L; 3:46372925-46372925 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.815C>T; p.S272F; 3:46373717-46373717 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.275C>A; p.A92D; 3:46373177-46373177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.275C>A; p.A92D; 3:46373177-46373177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.275C>A; p.A92D; 3:46373177-46373177 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1001G>A; p.R334Q; 3:46373903-46373903 |
skin | malignant_melanoma | Substitution - Missense |
c.312G>C; p.L104F; 3:46373214-46373214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1001G>A; p.R334Q; 3:46373903-46373903 |
prostate | carcinoma | Substitution - Missense |
c.312G>C; p.L104F; 3:46373214-46373214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.312G>C; p.L104F; 3:46373214-46373214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.312G>C; p.L104F; 3:46373214-46373214 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.388G>A; p.V130I; 3:46373290-46373290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.695G>A; p.R232K; 3:46373597-46373597 |
liver | carcinoma | Substitution - Missense |
c.388G>A; p.V130I; 3:46373290-46373290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.388G>A; p.V130I; 3:46373290-46373290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.388G>A; p.V130I; 3:46373290-46373290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.388G>A; p.V130I; 3:46373290-46373290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.388G>A; p.V130I; 3:46373290-46373290 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.339C>T; p.F113F; 3:46373241-46373241 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.339C>T; p.F113F; 3:46373241-46373241 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.481C>G; p.L161V; 3:46373383-46373383 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.481C>G; p.L161V; 3:46373383-46373383 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.481C>G; p.L161V; 3:46373383-46373383 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.481C>G; p.L161V; 3:46373383-46373383 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.684G>A; p.K228K; 3:46373586-46373586 |
skin | malignant_melanoma | Substitution - coding silent |
c.1039G>A; p.E347K; 3:46373941-46373941 |
skin | malignant_melanoma | Substitution - Missense |
c.477G>T; p.A159A; 3:46373379-46373379 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1028C>T; p.T343I; 3:46373930-46373930 |
skin | malignant_melanoma | Substitution - Missense |
c.477G>T; p.A159A; 3:46373379-46373379 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.477G>T; p.A159A; 3:46373379-46373379 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.780C>T; p.F260F; 3:46373682-46373682 |
skin | malignant_melanoma | Substitution - coding silent |
c.277C>G; p.Q93E; 3:46373179-46373179 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.341C>G; p.S114C; 3:46373243-46373243 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.135T>C; p.F45F; 3:46373037-46373037 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.232T>C; p.F78L; 3:46373134-46373134 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.232T>C; p.F78L; 3:46373134-46373134 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.969C>T; p.C323C; 3:46373871-46373871 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.232T>C; p.F78L; 3:46373134-46373134 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.232T>C; p.F78L; 3:46373134-46373134 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.400G>T; p.V134L; 3:46373302-46373302 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.867C>A; p.H289Q; 3:46373769-46373769 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.342T>G; p.S114S; 3:46373244-46373244 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.680_682delAGA; p.K229delK; 3:46373582-46373584 |
breast | carcinoma | Deletion - In frame |
c.579C>T; p.F193F; 3:46373481-46373481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.23C>A; p.P8Q; 3:46372925-46372925 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.247G>C; p.V83L; 3:46373149-46373149 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1046C>T; p.S349F; 3:46373948-46373948 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.247G>C; p.V83L; 3:46373149-46373149 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.247G>C; p.V83L; 3:46373149-46373149 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.247G>C; p.V83L; 3:46373149-46373149 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.551_582del32; p.S185fs*32; 3:46373453-46373484 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.551_582del32; p.S185fs*32; 3:46373453-46373484 |
breast | carcinoma | Deletion - Frameshift |
c.781C>T; p.Q261*; 3:46373683-46373683 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1022G>T; p.R341L; 3:46373924-46373924 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.523C>T; p.H175Y; 3:46373425-46373425 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.796C>T; p.L266L; 3:46373698-46373698 |
skin | malignant_melanoma | Substitution - coding silent |
c.391G>A; p.V131I; 3:46373293-46373293 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.736C>T; p.L246F; 3:46373638-46373638 |
skin | malignant_melanoma | Substitution - Missense |
c.249C>T; p.V83V; 3:46373151-46373151 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.250C>T; p.P84S; 3:46373152-46373152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.503G>T; p.R168I; 3:46373405-46373405 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.201C>T; p.I67I; 3:46373103-46373103 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.276C>T; p.A92A; 3:46373178-46373178 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.375T>C; p.D125D; 3:46373277-46373277 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.390C>T; p.V130V; 3:46373292-46373292 |
skin | malignant_melanoma | Substitution - coding silent |
c.390C>T; p.V130V; 3:46373292-46373292 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.390C>T; p.V130V; 3:46373292-46373292 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.390C>T; p.V130V; 3:46373292-46373292 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.390C>T; p.V130V; 3:46373292-46373292 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.834T>A; p.A278A; 3:46373736-46373736 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.390C>T; p.V130V; 3:46373292-46373292 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.933C>T; p.F311F; 3:46373835-46373835 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.714C>T; p.F238F; 3:46373616-46373616 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.155T>C; p.I52T; 3:46373057-46373057 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.902G>A; p.G301E; 3:46373804-46373804 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.757A>T; p.I253F; 3:46373659-46373659 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.918C>A; p.N306K; 3:46373820-46373820 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.673C>T; p.R225*; 3:46373575-46373575 |
pancreas | carcinoma | Substitution - Nonsense |
c.592A>G; p.I198V; 3:46373494-46373494 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.952A>G; p.K318E; 3:46373854-46373854 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.170A>T; p.N57I; 3:46373072-46373072 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.170A>T; p.N57I; 3:46373072-46373072 |
skin | malignant_melanoma | Substitution - Missense |
c.170A>T; p.N57I; 3:46373072-46373072 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.170A>T; p.N57I; 3:46373072-46373072 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.170A>T; p.N57I; 3:46373072-46373072 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.170A>T; p.N57I; 3:46373072-46373072 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.321C>G; p.L107L; 3:46373223-46373223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.170A>T; p.N57I; 3:46373072-46373072 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.321C>G; p.L107L; 3:46373223-46373223 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.228C>T; p.D76D; 3:46373130-46373130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.556C>A; p.Q186K; 3:46373458-46373458 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.228C>T; p.D76D; 3:46373130-46373130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.228C>T; p.D76D; 3:46373130-46373130 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.556C>A; p.Q186K; 3:46373458-46373458 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.305A>G; p.Q102R; 3:46373207-46373207 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.992C>A; p.A331D; 3:46373894-46373894 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.736C>A; p.L246I; 3:46373638-46373638 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.255C>G; p.F85L; 3:46373157-46373157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.255C>G; p.F85L; 3:46373157-46373157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.255C>G; p.F85L; 3:46373157-46373157 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.664C>T; p.L222F; 3:46373566-46373566 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.789C>A; p.F263L; 3:46373691-46373691 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.575A>T; p.N192I; 3:46373477-46373477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.789C>A; p.F263L; 3:46373691-46373691 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.295A>G; p.T99A; 3:46373197-46373197 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.351C>G; p.F117L; 3:46373253-46373253 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351C>G; p.F117L; 3:46373253-46373253 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.423G>A; p.T141T; 3:46373325-46373325 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.554G>T; p.S185I; 3:46373456-46373456 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.554G>T; p.S185I; 3:46373456-46373456 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.85G>A; p.A29T; 3:46372987-46372987 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.554G>T; p.S185I; 3:46373456-46373456 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.554G>T; p.S185I; 3:46373456-46373456 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.774C>A; p.N258K; 3:46373676-46373676 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.554_585del32; p.S185fs*32; 3:46373456-46373487 |
kidney | carcinoma; renal_cell_carcinoma | Deletion - Frameshift |
c.554_585del32; p.S185fs*32; 3:46373456-46373487 |
large_intestine; colon | carcinoma | Deletion - Frameshift |
c.554_585del32; p.S185fs*32; 3:46373456-46373487 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Deletion - Frameshift |
c.554_585del32; p.S185fs*32; 3:46373456-46373487 |
skin; upper_leg | malignant_melanoma | Deletion - Frameshift |
c.101C>T; p.P34L; 3:46373003-46373003 |
skin | malignant_melanoma | Substitution - Missense |
c.349T>G; p.F117V; 3:46373251-46373251 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.326T>A; p.F109Y; 3:46373228-46373228 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.291A>G; p.G97G; 3:46373193-46373193 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.326T>A; p.F109Y; 3:46373228-46373228 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.27C>A; p.I9I; 3:46372929-46372929 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.398C>T; p.A133V; 3:46373300-46373300 |
stomach | adenocarcinoma | Substitution - Missense |
c.307C>T; p.L103F; 3:46373209-46373209 |
skin | malignant_melanoma | Substitution - Missense |
c.307C>T; p.L103F; 3:46373209-46373209 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.674G>A; p.R225Q; 3:46373576-46373576 |
skin | malignant_melanoma | Substitution - Missense |
c.674G>A; p.R225Q; 3:46373576-46373576 |
skin | malignant_melanoma | Substitution - Missense |
c.674G>A; p.R225Q; 3:46373576-46373576 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.674G>A; p.R225Q; 3:46373576-46373576 |
skin | malignant_melanoma | Substitution - Missense |
c.316G>C; p.G106R; 3:46373218-46373218 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.336C>T; p.F112F; 3:46373238-46373238 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.33C>T; p.D11D; 3:46372935-46372935 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.456T>C; p.T152T; 3:46373358-46373358 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.274G>A; p.A92T; 3:46373176-46373176 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.456T>C; p.T152T; 3:46373358-46373358 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.274G>A; p.A92T; 3:46373176-46373176 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.252C>A; p.P84P; 3:46373154-46373154 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.252C>A; p.P84P; 3:46373154-46373154 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.864G>A; p.T288T; 3:46373766-46373766 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |