| Gene ID | 64399 |
| Symbol | HHIP |
| Synonymous | HIP |
| Full name | hedgehog interacting protein |
| Gene description | hedgehog-interacting protein |
| Cytoband | 4q28-q32 |
| Gene type | protein-coding |
| Synonymous | MIM:606178; HGNC:HGNC:14866; HPRD:06937 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1700G>C; p.S567T; 4:144718896-144718896 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.803T>G; p.I268S; 4:144659810-144659810 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1801delG; p.A601fs*4; 4:144734781-144734781 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.755A>C; p.K252T; 4:144659762-144659762 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1801delG; p.A601fs*4; 4:144734781-144734781 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Deletion - Frameshift |
c.412C>T; p.P138S; 4:144652737-144652737 |
skin | malignant_melanoma | Substitution - Missense |
c.1611C>T; p.L537L; 4:144715363-144715363 |
skin | malignant_melanoma | Substitution - coding silent |
c.139C>T; p.R47C; 4:144646814-144646814 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.139C>T; p.R47C; 4:144646814-144646814 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>T; p.S96F; 4:144652612-144652612 |
skin | malignant_melanoma | Substitution - Missense |
c.99A>T; p.G33G; 4:144646774-144646774 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1220C>A; p.S407Y; 4:144708230-144708230 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>A; p.S96Y; 4:144652612-144652612 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.287C>A; p.S96Y; 4:144652612-144652612 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1931G>A; p.R644H; 4:144737785-144737785 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.58G>A; p.E20K; 4:144646733-144646733 |
skin | malignant_melanoma | Substitution - Missense |
c.471A>G; p.P157P; 4:144652796-144652796 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.88G>A; p.E30K; 4:144646763-144646763 |
skin | malignant_melanoma | Substitution - Missense |
c.1084G>T; p.D362Y; 4:144707187-144707187 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1719G>T; p.Q573H; 4:144718915-144718915 |
liver | carcinoma | Substitution - Missense |
c.1719G>T; p.Q573H; 4:144718915-144718915 |
liver | carcinoma | Substitution - Missense |
c.322G>C; p.E108Q; 4:144652647-144652647 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1861G>A; p.G621R; 4:144734841-144734841 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.13C>T; p.L5F; 4:144646688-144646688 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1594G>A; p.E532K; 4:144715346-144715346 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.766C>T; p.P256S; 4:144659773-144659773 |
skin | malignant_melanoma | Substitution - Missense |
c.1663G>C; p.G555R; 4:144715415-144715415 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.135G>A; p.P45P; 4:144646810-144646810 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.766C>T; p.P256S; 4:144659773-144659773 |
skin | malignant_melanoma | Substitution - Missense |
c.105G>T; p.R35S; 4:144646780-144646780 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.257G>A; p.G86E; 4:144646932-144646932 |
skin | malignant_melanoma | Substitution - Missense |
c.1894G>A; p.D632N; 4:144734874-144734874 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.1622G>A; p.G541E; 4:144715374-144715374 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1644C>T; p.S548S; 4:144715396-144715396 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1843G>A; p.G615S; 4:144734823-144734823 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1427G>A; p.S476N; 4:144714228-144714228 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1164C>T; p.F388F; 4:144708174-144708174 |
skin | malignant_melanoma | Substitution - coding silent |
c.1164C>T; p.F388F; 4:144708174-144708174 |
skin | malignant_melanoma | Substitution - coding silent |
c.1164C>T; p.F388F; 4:144708174-144708174 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.734T>C; p.L245P; 4:144659741-144659741 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1574C>A; p.P525H; 4:144715326-144715326 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.262_268delGGGCGCC; p.G88fs*46; 4:144646937-144646943 |
liver | carcinoma; hepatocellular_carcinoma | Deletion - Frameshift |
c.679C>T; p.R227W; 4:144659686-144659686 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1798C>T; p.P600S; 4:144734778-144734778 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1891G>T; p.G631W; 4:144734871-144734871 |
prostate | carcinoma | Substitution - Missense |
c.1267G>A; p.E423K; 4:144708277-144708277 |
large_intestine; rectum | adenoma | Substitution - Missense |
c.1082C>T; p.P361L; 4:144707185-144707185 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.284T>G; p.F95C; 4:144652609-144652609 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.439G>T; p.E147*; 4:144652764-144652764 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1548G>A; p.G516G; 4:144715300-144715300 |
skin | malignant_melanoma | Substitution - coding silent |
c.1287C>T; p.L429L; 4:144708297-144708297 |
pancreas | carcinoma; adenocarcinoma | Substitution - coding silent |
c.44C>T; p.A15V; 4:144646719-144646719 |
skin | malignant_melanoma | Substitution - Missense |
c.566G>A; p.R189K; 4:144658883-144658883 |
pancreas | carcinoma | Substitution - Missense |
c.1730G>A; p.G577E; 4:144718926-144718926 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.44C>T; p.A15V; 4:144646719-144646719 |
skin | malignant_melanoma | Substitution - Missense |
c.1823G>A; p.C608Y; 4:144734803-144734803 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1226C>A; p.P409Q; 4:144708236-144708236 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.255G>A; p.P85P; 4:144646930-144646930 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1391G>A; p.R464K; 4:144712039-144712039 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1196C>G; p.T399R; 4:144708206-144708206 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1743A>C; p.K581N; 4:144718939-144718939 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1209C>A; p.N403K; 4:144708219-144708219 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.91G>A; p.G31R; 4:144646766-144646766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.116G>A; p.C39Y; 4:144646791-144646791 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.116G>A; p.C39Y; 4:144646791-144646791 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.1137G>A; p.M379I; 4:144707240-144707240 |
skin | malignant_melanoma | Substitution - Missense |
c.758T>G; p.I253R; 4:144659765-144659765 |
liver | carcinoma | Substitution - Missense |
c.1413G>A; p.G471G; 4:144712061-144712061 |
skin | malignant_melanoma | Substitution - coding silent |
c.758T>G; p.I253R; 4:144659765-144659765 |
liver | carcinoma | Substitution - Missense |
c.1413G>A; p.G471G; 4:144712061-144712061 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.959G>A; p.R320K; 4:144706658-144706658 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1672G>A; p.E558K; 4:144715424-144715424 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.261A>C; p.L87L; 4:144646936-144646936 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2072A>G; p.Y691C; 4:144737926-144737926 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.775G>A; p.E259K; 4:144659782-144659782 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.400G>T; p.D134Y; 4:144652725-144652725 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1997G>A; p.C666Y; 4:144737851-144737851 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.97G>A; p.G33R; 4:144646772-144646772 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1097A>G; p.Y366C; 4:144707200-144707200 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1291G>A; p.D431N; 4:144708301-144708301 |
skin | malignant_melanoma | Substitution - Missense |
c.1291G>A; p.D431N; 4:144708301-144708301 |
skin | malignant_melanoma | Substitution - Missense |
c.1291G>A; p.D431N; 4:144708301-144708301 |
skin | malignant_melanoma | Substitution - Missense |
c.1291G>A; p.D431N; 4:144708301-144708301 |
skin | malignant_melanoma | Substitution - Missense |
c.585C>G; p.Y195*; 4:144658902-144658902 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1540C>T; p.R514C; 4:144714341-144714341 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1540C>T; p.R514C; 4:144714341-144714341 |
skin | malignant_melanoma | Substitution - Missense |
c.1465G>T; p.G489C; 4:144714266-144714266 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1910-2A>G; p.?; 4:144737762-144737762 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.872C>T; p.P291L; 4:144706571-144706571 |
skin | malignant_melanoma | Substitution - Missense |
c.1423+2T>C; p.?; 4:144712073-144712073 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.477C>T; p.F159F; 4:144658794-144658794 |
skin | malignant_melanoma | Substitution - coding silent |
c.1537G>A; p.D513N; 4:144714338-144714338 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1537G>A; p.D513N; 4:144714338-144714338 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537G>A; p.D513N; 4:144714338-144714338 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.518G>T; p.R173I; 4:144658835-144658835 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1524C>G; p.S508R; 4:144714325-144714325 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.241C>T; p.R81W; 4:144646916-144646916 |
pancreas | carcinoma | Substitution - Missense |
c.1468C>T; p.P490S; 4:144714269-144714269 |
skin | malignant_melanoma | Substitution - Missense |
c.992C>T; p.P331L; 4:144707095-144707095 |
skin | malignant_melanoma | Substitution - Missense |
c.992C>T; p.P331L; 4:144707095-144707095 |
skin | malignant_melanoma | Substitution - Missense |
c.492G>A; p.A164A; 4:144658809-144658809 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.444C>A; p.F148L; 4:144652769-144652769 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1421A>G; p.Y474C; 4:144712069-144712069 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1864A>T; p.K622*; 4:144734844-144734844 |
skin | malignant_melanoma | Substitution - Nonsense |
c.444C>A; p.F148L; 4:144652769-144652769 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.150G>A; p.R50R; 4:144646825-144646825 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1924G>T; p.A642S; 4:144737778-144737778 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>A; p.A288T; 4:144706561-144706561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>A; p.A288T; 4:144706561-144706561 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>A; p.A288T; 4:144706561-144706561 |
skin | malignant_melanoma | Substitution - Missense |
c.955C>T; p.L319F; 4:144706654-144706654 |
skin; trunk | malignant_melanoma; nodular | Substitution - Missense |
c.773G>A; p.G258E; 4:144659780-144659780 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.773G>A; p.G258E; 4:144659780-144659780 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.190G>A; p.G64R; 4:144646865-144646865 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.190G>A; p.G64R; 4:144646865-144646865 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.54C>A; p.F18L; 4:144646729-144646729 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1842C>G; p.N614K; 4:144734822-144734822 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1703G>A; p.S568N; 4:144718899-144718899 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1622G>T; p.G541V; 4:144715374-144715374 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.722G>A; p.R241H; 4:144659729-144659729 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.722G>A; p.R241H; 4:144659729-144659729 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1101C>T; p.I367I; 4:144707204-144707204 |
skin | malignant_melanoma | Substitution - coding silent |
c.674G>T; p.G225V; 4:144659681-144659681 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.538T>G; p.F180V; 4:144658855-144658855 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.1461T>C; p.S487S; 4:144714262-144714262 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1657G>A; p.G553R; 4:144715409-144715409 |
skin | malignant_melanoma | Substitution - Missense |
c.534G>T; p.L178F; 4:144658851-144658851 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.642C>A; p.H214Q; 4:144659649-144659649 |
liver | carcinoma | Substitution - Missense |
c.642C>A; p.H214Q; 4:144659649-144659649 |
liver | carcinoma | Substitution - Missense |
c.889G>A; p.G297R; 4:144706588-144706588 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.938G>A; p.G313E; 4:144706637-144706637 |
pancreas | carcinoma | Substitution - Missense |
c.93G>A; p.G31G; 4:144646768-144646768 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.225G>A; p.R75R; 4:144646900-144646900 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.134C>T; p.P45L; 4:144646809-144646809 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.123T>A; p.N41K; 4:144646798-144646798 |
thyroid | other; neoplasm | Substitution - Missense |
c.350C>T; p.P117L; 4:144652675-144652675 |
skin | malignant_melanoma | Substitution - Missense |
c.1227A>G; p.P409P; 4:144708237-144708237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1758A>G; p.K586K; 4:144718954-144718954 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.137A>G; p.K46R; 4:144646812-144646812 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1370G>A; p.G457E; 4:144712018-144712018 |
skin | malignant_melanoma | Substitution - Missense |
c.616G>A; p.E206K; 4:144658933-144658933 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1684G>T; p.V562F; 4:144718880-144718880 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1684G>T; p.V562F; 4:144718880-144718880 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1684G>T; p.V562F; 4:144718880-144718880 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1684G>T; p.V562F; 4:144718880-144718880 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2099T>C; p.V700A; 4:144737953-144737953 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1815T>G; p.T605T; 4:144734795-144734795 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1252A>G; p.T418A; 4:144708262-144708262 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1270G>A; p.V424M; 4:144708280-144708280 |
skin | malignant_melanoma | Substitution - Missense |
c.680G>A; p.R227Q; 4:144659687-144659687 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.859C>T; p.L287F; 4:144706558-144706558 |
skin | malignant_melanoma | Substitution - Missense |
c.1740C>A; p.Y580*; 4:144718936-144718936 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.680G>A; p.R227Q; 4:144659687-144659687 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.680G>A; p.R227Q; 4:144659687-144659687 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.159G>A; p.R53R; 4:144646834-144646834 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1612G>A; p.G538S; 4:144715364-144715364 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1526A>G; p.Y509C; 4:144714327-144714327 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1612G>A; p.G538S; 4:144715364-144715364 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.129delC; p.P45fs*4; 4:144646804-144646804 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1490A>C; p.Y497S; 4:144714291-144714291 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.569G>A; p.G190E; 4:144658886-144658886 |
skin | malignant_melanoma | Substitution - Missense |
c.1490A>C; p.Y497S; 4:144714291-144714291 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1072C>T; p.L358F; 4:144707175-144707175 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.265C>T; p.R89C; 4:144646940-144646940 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1085A>G; p.D362G; 4:144707188-144707188 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.542C>T; p.P181L; 4:144658859-144658859 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.767C>T; p.P256L; 4:144659774-144659774 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.10A>C; p.M4L; 4:144646685-144646685 |
skin | malignant_melanoma | Substitution - Missense |
c.83G>T; p.R28I; 4:144646758-144646758 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1412G>A; p.G471E; 4:144712060-144712060 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.149G>A; p.R50K; 4:144646824-144646824 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1049G>T; p.R350I; 4:144707152-144707152 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.37G>C; p.A13P; 4:144646712-144646712 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.24_26delGCT; p.L12delL; 4:144646699-144646701 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.24_26delGCT; p.L12delL; 4:144646699-144646701 |
NS | malignant_melanoma | Deletion - In frame |
c.775G>T; p.E259*; 4:144659782-144659782 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1999G>A; p.E667K; 4:144737853-144737853 |
skin | malignant_melanoma | Substitution - Missense |
c.1838G>A; p.R613Q; 4:144734818-144734818 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1972delA; p.G660fs*17; 4:144737826-144737826 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1931G>C; p.R644P; 4:144737785-144737785 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.929G>A; p.W310*; 4:144706628-144706628 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1965C>G; p.C655W; 4:144737819-144737819 |
skin; ankle | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.418C>T; p.L140F; 4:144652743-144652743 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.79G>A; p.E27K; 4:144646754-144646754 |
skin | malignant_melanoma | Substitution - Missense |
c.1257C>T; p.N419N; 4:144708267-144708267 |
skin | malignant_melanoma | Substitution - coding silent |
c.1158-2A>G; p.?; 4:144708166-144708166 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1830G>T; p.R610S; 4:144734810-144734810 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1909G>A; p.A637T; 4:144734889-144734889 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.621G>T; p.E207D; 4:144658938-144658938 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1803A>G; p.A601A; 4:144734783-144734783 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1860G>A; p.T620T; 4:144734840-144734840 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.142C>A; p.L48M; 4:144646817-144646817 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1547G>A; p.G516E; 4:144714348-144714348 |
skin; mucosal | malignant_melanoma | Substitution - Missense |
c.493G>T; p.D165Y; 4:144658810-144658810 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.694G>T; p.A232S; 4:144659701-144659701 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1209C>T; p.N403N; 4:144708219-144708219 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.223C>T; p.R75W; 4:144646898-144646898 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.85A>T; p.N29Y; 4:144646760-144646760 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1679-1G>T; p.?; 4:144718874-144718874 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1789A>G; p.T597A; 4:144734769-144734769 |
breast | carcinoma | Substitution - Missense |
c.1745T>G; p.I582S; 4:144718941-144718941 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1745T>G; p.I582S; 4:144718941-144718941 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.122A>C; p.N41T; 4:144646797-144646797 |
thyroid | other; neoplasm | Substitution - Missense |
c.386_387delAA; p.E129fs*37; 4:144652711-144652712 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - Frameshift |