| Gene ID | 10188 |
| Symbol | TNK2 |
| Synonymous | ACK|ACK-1|ACK1|p21cdc42Hs |
| Full name | tyrosine kinase, non-receptor, 2 |
| Gene description | activated CDC42 kinase 1|activated Cdc42-associated kinase 1|activated p21cdc42Hs kinase|tyrosine kinase non-receptor protein 2 |
| Cytoband | 3q29 |
| Gene type | protein-coding |
| Synonymous | MIM:606994; HGNC:HGNC:19297; Ensembl:ENSG00000061938; HPRD:06104; Vega:OTTHUMG00000155737 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2926C>T; p.Q976*; 3:195867225-195867225 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3010C>T; p.R1004W; 3:195866989-195866989 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.R275Q; 3:195882114-195882114 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1227G>A; p.M409I; 3:195878282-195878282 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1227G>A; p.M409I; 3:195878282-195878282 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1227G>A; p.M409I; 3:195878282-195878282 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.100C>T; p.R34C; 3:195888489-195888489 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1055G>A; p.R352Q; 3:195878552-195878552 |
ovary | other; neoplasm | Substitution - Missense |
c.3087C>T; p.G1029G; 3:195866912-195866912 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1165C>A; p.Q389K; 3:195878344-195878344 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1732G>T; p.V578L; 3:195868521-195868521 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2251C>G; p.R751G; 3:195868002-195868002 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2759A>G; p.K920R; 3:195867494-195867494 |
skin | malignant_melanoma | Substitution - Missense |
c.571C>T; p.R191C; 3:195883195-195883195 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2772C>A; p.S924S; 3:195867481-195867481 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.375C>T; p.D125D; 3:195884893-195884893 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.751C>T; p.R251C; 3:195882187-195882187 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.224G>A; p.W75*; 3:195886987-195886987 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.1418G>A; p.R473H; 3:195872309-195872309 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.250C>T; p.R84*; 3:195885018-195885018 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Nonsense |
c.131A>G; p.E44G; 3:195888458-195888458 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1986G>T; p.G662G; 3:195868267-195868267 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1551C>T; p.T517T; 3:195868702-195868702 |
pancreas | carcinoma | Substitution - coding silent |
c.219G>T; p.K73N; 3:195886992-195886992 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2810C>T; p.P937L; 3:195867443-195867443 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.74G>A; p.R25Q; 3:195888515-195888515 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2367G>T; p.S789S; 3:195867886-195867886 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.675C>T; p.L225L; 3:195882263-195882263 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.810C>G; p.D270E; 3:195882128-195882128 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2894C>G; p.A965G; 3:195867257-195867257 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1844C>T; p.P615L; 3:195868409-195868409 |
skin | malignant_melanoma | Substitution - Missense |
c.852C>T; p.Y284Y; 3:195882086-195882086 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2645C>T; p.P882L; 3:195867608-195867608 |
thyroid | other; neoplasm | Substitution - Missense |
c.527G>A; p.R176Q; 3:195883239-195883239 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.898G>A; p.E300K; 3:195879165-195879165 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; mantle_cell_lymphoma | Substitution - Missense |
c.898G>A; p.E300K; 3:195879165-195879165 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.898G>A; p.E300K; 3:195879165-195879165 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2646C>T; p.P882P; 3:195867607-195867607 |
thyroid | other; neoplasm | Substitution - coding silent |
c.457-8C>G; p.?; 3:195883317-195883317 |
eye; uveal_tract | malignant_melanoma; spindle | Unknown |
c.511A>T; p.M171L; 3:195883255-195883255 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1046G>A; p.R349Q; 3:195878561-195878561 |
prostate | carcinoma | Substitution - Missense |
c.1349C>T; p.S450L; 3:195872378-195872378 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |
c.1349C>T; p.S450L; 3:195872378-195872378 |
skin | malignant_melanoma | Substitution - Missense |
c.1349C>T; p.S450L; 3:195872378-195872378 |
skin; leg | malignant_melanoma | Substitution - Missense |
c.1349C>T; p.S450L; 3:195872378-195872378 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1836G>T; p.L612L; 3:195868417-195868417 |
skin | malignant_melanoma | Substitution - coding silent |
c.1318C>T; p.R440C; 3:195872409-195872409 |
prostate | carcinoma | Substitution - Missense |
c.2798G>A; p.R933Q; 3:195867455-195867455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2598A>G; p.P866P; 3:195867655-195867655 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.157C>T; p.R53W; 3:195888432-195888432 |
skin | malignant_melanoma | Substitution - Missense |
c.2423C>G; p.S808*; 3:195867830-195867830 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.439G>A; p.A147T; 3:195884829-195884829 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.457-2A>G; p.?; 3:195883311-195883311 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.296G>A; p.R99Q; 3:195884972-195884972 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.296G>A; p.R99Q; 3:195884972-195884972 |
ovary | carcinoma; mucinous_carcinoma | Substitution - Missense |
c.1164C>T; p.A388A; 3:195878345-195878345 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3042G>A; p.E1014E; 3:195866957-195866957 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2236_2237CC>TT; p.P746F; 3:195868016-195868017 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1984G>A; p.G662R; 3:195868269-195868269 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2683C>T; p.P895S; 3:195867570-195867570 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2908G>A; p.V970M; 3:195867243-195867243 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1859C>A; p.P620H; 3:195868394-195868394 |
pancreas | carcinoma | Substitution - Missense |
c.295C>T; p.R99W; 3:195884973-195884973 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1859C>A; p.P620H; 3:195868394-195868394 |
pancreas | carcinoma | Substitution - Missense |
c.2625C>T; p.F875F; 3:195867628-195867628 |
skin | malignant_melanoma | Substitution - coding silent |
c.1144C>G; p.R382G; 3:195878463-195878463 |
ovary | other; neoplasm | Substitution - Missense |
c.1611G>A; p.L537L; 3:195868642-195868642 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.635C>T; p.S212L; 3:195882303-195882303 |
skin | malignant_melanoma | Substitution - Missense |
c.2338_2339CC>TT; p.P780L; 3:195867914-195867915 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1544-1_1544insAACC; p.Y518fs*3; 3:195868709-195868710 |
large_intestine; colon | carcinoma | Unknown |
c.635C>T; p.S212L; 3:195882303-195882303 |
skin; scalp | malignant_melanoma | Substitution - Missense |
c.101G>T; p.R34L; 3:195888488-195888488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.252A>G; p.R84R; 3:195885016-195885016 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.101G>T; p.R34L; 3:195888488-195888488 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.101G>T; p.R34L; 3:195888488-195888488 |
lung | carcinoma; non_small_cell_carcinoma | Substitution - Missense |
c.252A>G; p.R84R; 3:195885016-195885016 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1482_1483insC; p.D495fs*25; 3:195870174-195870175 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2101G>T; p.A701S; 3:195868152-195868152 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1482_1483insC; p.D495fs*25; 3:195870174-195870175 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1022A>T; p.H341L; 3:195878585-195878585 |
liver | carcinoma | Substitution - Missense |
c.1022A>T; p.H341L; 3:195878585-195878585 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.120C>T; p.Y40Y; 3:195888469-195888469 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.360C>G; p.L120L; 3:195884908-195884908 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.144G>A; p.K48K; 3:195888445-195888445 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.2819C>A; p.T940N; 3:195867434-195867434 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1085A>G; p.N362S; 3:195878522-195878522 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2252G>A; p.R751H; 3:195868001-195868001 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1493G>C; p.S498T; 3:195870164-195870164 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.158G>A; p.R53Q; 3:195888431-195888431 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1667C>T; p.P556L; 3:195868586-195868586 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.570C>T; p.I190I; 3:195883196-195883196 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1895_1896insC; p.P633fs*4; 3:195868357-195868358 |
large_intestine; caecum | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.296G>T; p.R99L; 3:195884972-195884972 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2225G>T; p.R742L; 3:195868028-195868028 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2225G>T; p.R742L; 3:195868028-195868028 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2702C>T; p.A901V; 3:195867551-195867551 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2146A>G; p.R716G; 3:195868107-195868107 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.294C>T; p.F98F; 3:195884974-195884974 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.652C>A; p.R218S; 3:195882286-195882286 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1786G>A; p.A596T; 3:195868467-195868467 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.295C>A; p.R99R; 3:195884973-195884973 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.463G>T; p.V155L; 3:195883303-195883303 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.171G>A; p.R57R; 3:195887040-195887040 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.303C>A; p.T101T; 3:195884965-195884965 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2070G>A; p.P690P; 3:195868183-195868183 |
breast | carcinoma | Substitution - coding silent |
c.2576A>C; p.Y859S; 3:195867677-195867677 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2070G>A; p.P690P; 3:195868183-195868183 |
thyroid | other; neoplasm | Substitution - coding silent |
c.12G>A; p.E4E; 3:195888577-195888577 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.1417C>G; p.R473G; 3:195872310-195872310 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2100C>T; p.S700S; 3:195868153-195868153 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.400G>C; p.D134H; 3:195884868-195884868 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2674C>T; p.L892L; 3:195867579-195867579 |
skin | malignant_melanoma | Substitution - coding silent |
c.297G>A; p.R99R; 3:195884971-195884971 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |
c.2037G>A; p.P679P; 3:195868216-195868216 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.94G>A; p.V32I; 3:195888495-195888495 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.987G>A; p.E329E; 3:195879076-195879076 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1301G>A; p.C434Y; 3:195872426-195872426 |
liver | carcinoma | Substitution - Missense |
c.1419C>T; p.R473R; 3:195872308-195872308 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.69C>T; p.F23F; 3:195888520-195888520 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.790G>A; p.D264N; 3:195882148-195882148 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.287G>T; p.S96I; 3:195884981-195884981 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.579C>T; p.Y193Y; 3:195883187-195883187 |
bone; fibula | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1178T>C; p.M393T; 3:195878331-195878331 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.599C>T; p.P200L; 3:195883167-195883167 |
skin | malignant_melanoma | Substitution - Missense |
c.2266C>A; p.L756M; 3:195867987-195867987 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2997C>T; p.F999F; 3:195867002-195867002 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.73C>T; p.R25W; 3:195888516-195888516 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.873G>T; p.K291N; 3:195882065-195882065 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291C>T; p.R431W; 3:195872436-195872436 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.126G>A; p.K42K; 3:195888463-195888463 |
skin | malignant_melanoma | Substitution - coding silent |
c.126G>A; p.K42K; 3:195888463-195888463 |
skin | malignant_melanoma | Substitution - coding silent |
c.92A>G; p.N31S; 3:195888497-195888497 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.975C>T; p.T325T; 3:195879088-195879088 |
skin | malignant_melanoma | Substitution - coding silent |
c.1395_1396delAG; p.G466fs*5; 3:195872331-195872332 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.1036G>A; p.E346K; 3:195878571-195878571 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1036G>A; p.E346K; 3:195878571-195878571 |
ovary | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1334C>T; p.S445F; 3:195872393-195872393 |
skin | malignant_melanoma | Substitution - Missense |
c.2355C>T; p.S785S; 3:195867898-195867898 |
skin | malignant_melanoma | Substitution - coding silent |
c.1522delC; p.Q508fs*3; 3:195870135-195870135 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1482delC; p.D495fs*3; 3:195870175-195870175 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2177C>T; p.A726V; 3:195868076-195868076 |
skin | malignant_melanoma | Substitution - Missense |
c.1482delC; p.D495fs*3; 3:195870175-195870175 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2266C>T; p.L756L; 3:195867987-195867987 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1522delC; p.Q508fs*3; 3:195870135-195870135 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1482delC; p.D495fs*3; 3:195870175-195870175 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2246C>T; p.P749L; 3:195868007-195868007 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2311G>T; p.G771*; 3:195867942-195867942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1876G>T; p.A626S; 3:195868377-195868377 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.978C>T; p.Y326Y; 3:195879085-195879085 |
skin | malignant_melanoma | Substitution - coding silent |
c.978C>T; p.Y326Y; 3:195879085-195879085 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1156C>T; p.L386L; 3:195878451-195878451 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.380G>A; p.R127H; 3:195884888-195884888 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2282delC; p.P761fs*72; 3:195867971-195867971 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2081G>A; p.G694E; 3:195868172-195868172 |
breast | carcinoma | Substitution - Missense |
c.222G>A; p.S74S; 3:195886989-195886989 |
prostate | carcinoma | Substitution - coding silent |
c.2081G>A; p.G694E; 3:195868172-195868172 |
breast | carcinoma | Substitution - Missense |
c.1798C>A; p.L600M; 3:195868455-195868455 |
liver | carcinoma | Substitution - Missense |
c.2629C>T; p.R877C; 3:195867624-195867624 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1798C>A; p.L600M; 3:195868455-195868455 |
liver | carcinoma | Substitution - Missense |
c.1522_1523insC; p.Q508fs*12; 3:195870134-195870135 |
large_intestine | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.1895delC; p.P632fs*84; 3:195868358-195868358 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1895delC; p.P632fs*84; 3:195868358-195868358 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.259G>T; p.A87S; 3:195885009-195885009 |
ovary | other; neoplasm | Substitution - Missense |
c.835C>T; p.Q279*; 3:195882103-195882103 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1970C>T; p.A657V; 3:195868283-195868283 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.801G>T; p.K267N; 3:195882137-195882137 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.293T>A; p.F98Y; 3:195884975-195884975 |
ovary | other; neoplasm | Substitution - Missense |
c.1769C>T; p.A590V; 3:195868484-195868484 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085delA; p.N362fs*48; 3:195878522-195878522 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1719C>T; p.F573F; 3:195868534-195868534 |
thyroid | other; neoplasm | Substitution - coding silent |
c.957A>G; p.T319T; 3:195879106-195879106 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1769C>T; p.A590V; 3:195868484-195868484 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1108C>T; p.H370Y; 3:195878499-195878499 |
skin | malignant_melanoma | Substitution - Missense |
c.1719C>T; p.F573F; 3:195868534-195868534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.672C>T; p.F224F; 3:195882266-195882266 |
skin | malignant_melanoma | Substitution - coding silent |
c.792C>T; p.D264D; 3:195882146-195882146 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.940T>A; p.W314R; 3:195879123-195879123 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1798C>T; p.L600L; 3:195868455-195868455 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1387A>G; p.I463V; 3:195872340-195872340 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.124A>G; p.K42E; 3:195888465-195888465 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2319T>C; p.A773A; 3:195867934-195867934 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2319T>C; p.A773A; 3:195867934-195867934 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2319T>C; p.A773A; 3:195867934-195867934 |
breast | carcinoma | Substitution - coding silent |
c.333G>C; p.E111D; 3:195884935-195884935 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2491delC; p.Q831fs*2; 3:195867762-195867762 |
large_intestine; rectum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2491delC; p.Q831fs*2; 3:195867762-195867762 |
large_intestine; caecum | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.2491delC; p.Q831fs*2; 3:195867762-195867762 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.486C>T; p.P162P; 3:195883280-195883280 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3068C>A; p.A1023D; 3:195866931-195866931 |
liver | carcinoma | Substitution - Missense |
c.3068C>A; p.A1023D; 3:195866931-195866931 |
liver | carcinoma | Substitution - Missense |
c.1124G>A; p.R375K; 3:195878483-195878483 |
skin | malignant_melanoma | Substitution - Missense |
c.1577A>G; p.D526G; 3:195868676-195868676 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.683C>T; p.T228I; 3:195882255-195882255 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1719C>G; p.F573L; 3:195868534-195868534 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.914G>A; p.R305H; 3:195879149-195879149 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.326C>T; p.A109V; 3:195884942-195884942 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.416T>C; p.V139A; 3:195884852-195884852 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2113G>A; p.E705K; 3:195868140-195868140 |
pancreas | carcinoma; acinar_carcinoma | Substitution - Missense |