| Gene ID | 3918 |
| Symbol | LAMC2 |
| Synonymous | B2T|BM600|CSF|EBR2|EBR2A|LAMB2T|LAMNB2 |
| Full name | laminin, gamma 2 |
| Gene description | BM600-100kDa|CSF 140 kDa subunit|cell-scattering factor 140 kDa subunit|epiligrin subunit gamma|kalinin subunit gamma|ladsin 140 kDa subunit|laminin B2t chain|laminin subunit gamma-2|large adhesive scatter factor 140 kDa subunit|nicein subunit gamma |
| Cytoband | 1q25-q31 |
| Gene type | protein-coding |
| Synonymous | MIM:150292; HGNC:HGNC:6493; Ensembl:ENSG00000058085; HPRD:01031; Vega:OTTHUMG00000035520 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1298C>T; p.S433L; 1:183227527-183227527 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2769G>A; p.L923L; 1:183238321-183238321 |
ovary | other; neoplasm | Substitution - coding silent |
c.2191G>A; p.A731T; 1:183232828-183232828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1241T>C; p.I414T; 1:183226872-183226872 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402T>C; p.F468L; 1:183227631-183227631 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1402T>C; p.F468L; 1:183227631-183227631 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.518A>T; p.Y173F; 1:183220839-183220839 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3062T>C; p.I1021T; 1:183239556-183239556 |
kidney | other; neoplasm | Substitution - Missense |
c.2115T>C; p.V705V; 1:183232752-183232752 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3159G>A; p.M1053I; 1:183240129-183240129 |
skin | malignant_melanoma | Substitution - Missense |
c.2117G>A; p.R706Q; 1:183232754-183232754 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.488G>C; p.G163A; 1:183218473-183218473 |
breast | carcinoma | Substitution - Missense |
c.3257C>T; p.T1086I; 1:183240320-183240320 |
skin | malignant_melanoma | Substitution - Missense |
c.1316A>T; p.D439V; 1:183227545-183227545 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.3257C>T; p.T1086I; 1:183240320-183240320 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2984G>A; p.R995K; 1:183239478-183239478 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.1645T>G; p.Y549D; 1:183228550-183228550 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3269A>G; p.N1090S; 1:183240332-183240332 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2544T>A; p.S848R; 1:183236547-183236547 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.406G>A; p.D136N; 1:183218391-183218391 |
skin | malignant_melanoma | Substitution - Missense |
c.297C>T; p.S99S; 1:183215481-183215481 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1552C>T; p.Q518*; 1:183228457-183228457 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.3581G>A; p.*1194*; 1:183243399-183243399 |
oesophagus | carcinoma | Substitution - coding silent |
c.1583C>T; p.S528F; 1:183228488-183228488 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.3478G>A; p.E1160K; 1:183243296-183243296 |
skin | malignant_melanoma | Substitution - Missense |
c.3211A>G; p.M1071V; 1:183240181-183240181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1222G>T; p.G408W; 1:183226853-183226853 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2733G>T; p.Q911H; 1:183237483-183237483 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3206C>T; p.T1069M; 1:183240176-183240176 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1539T>C; p.P513P; 1:183228444-183228444 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.269-2A>G; p.?; 1:183215451-183215451 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.1354G>A; p.D452N; 1:183227583-183227583 |
skin | malignant_melanoma | Substitution - Missense |
c.1354G>A; p.D452N; 1:183227583-183227583 |
skin | malignant_melanoma | Substitution - Missense |
c.2443G>A; p.G815R; 1:183235717-183235717 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2443G>A; p.G815R; 1:183235717-183235717 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.67T>A; p.S23T; 1:183186419-183186419 |
skin | malignant_melanoma | Substitution - Missense |
c.43C>T; p.L15F; 1:183186395-183186395 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3015G>C; p.Q1005H; 1:183239509-183239509 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.3383C>T; p.S1128F; 1:183243201-183243201 |
skin | malignant_melanoma | Substitution - Missense |
c.239G>A; p.R80H; 1:183208040-183208040 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2686C>A; p.Q896K; 1:183237436-183237436 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3088T>A; p.L1030M; 1:183240058-183240058 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3454C>T; p.Q1152*; 1:183243272-183243272 |
skin | malignant_melanoma | Substitution - Nonsense |
c.3047A>G; p.E1016G; 1:183239541-183239541 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.776G>T; p.G259V; 1:183223147-183223147 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3023A>G; p.K1008R; 1:183239517-183239517 |
thyroid | carcinoma | Substitution - Missense |
c.601G>T; p.E201*; 1:183220922-183220922 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1427C>T; p.T476M; 1:183227656-183227656 |
liver | carcinoma | Substitution - Missense |
c.1975G>C; p.A659P; 1:183232304-183232304 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.296C>G; p.S99C; 1:183215480-183215480 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.976A>G; p.N326D; 1:183225630-183225630 |
liver | carcinoma | Substitution - Missense |
c.3545C>T; p.P1182L; 1:183243363-183243363 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1807G>A; p.E603K; 1:183231053-183231053 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.301C>T; p.R101W; 1:183215485-183215485 |
ovary | other; neoplasm | Substitution - Missense |
c.655A>G; p.K219E; 1:183222103-183222103 |
breast | carcinoma | Substitution - Missense |
c.2073C>T; p.Y691Y; 1:183232710-183232710 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2351A>C; p.D784A; 1:183235625-183235625 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.3385C>T; p.R1129*; 1:183243203-183243203 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2694T>G; p.N898K; 1:183237444-183237444 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.2380C>T; p.R794C; 1:183235654-183235654 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2380C>T; p.R794C; 1:183235654-183235654 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3423G>T; p.M1141I; 1:183243241-183243241 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1739C>G; p.S580*; 1:183230985-183230985 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.2475C>T; p.S825S; 1:183236478-183236478 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3278T>C; p.V1093A; 1:183240341-183240341 |
skin | malignant_melanoma | Substitution - Missense |
c.1783C>T; p.P595S; 1:183231029-183231029 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.995G>C; p.S332T; 1:183225649-183225649 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2349G>C; p.E783D; 1:183235623-183235623 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.581C>G; p.A194G; 1:183220902-183220902 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.3393G>T; p.K1131N; 1:183243211-183243211 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.802A>C; p.S268R; 1:183223173-183223173 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3393G>T; p.K1131N; 1:183243211-183243211 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3393G>T; p.K1131N; 1:183243211-183243211 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3393G>T; p.K1131N; 1:183243211-183243211 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3310G>A; p.G1104S; 1:183240373-183240373 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2221-1G>T; p.?; 1:183234366-183234366 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.971G>A; p.S324N; 1:183225625-183225625 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.747delC; p.Y250fs*14; 1:183222195-183222195 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.161_162TC>AA; p.L54>?; 1:183207962-183207963 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Complex |
c.2784T>G; p.N928K; 1:183238336-183238336 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.610G>T; p.V204F; 1:183220931-183220931 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1519G>A; p.E507K; 1:183228424-183228424 |
skin | malignant_melanoma | Substitution - Missense |
c.3311G>A; p.G1104D; 1:183240374-183240374 |
liver | carcinoma | Substitution - Missense |
c.2691G>T; p.K897N; 1:183237441-183237441 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.3063T>C; p.I1021I; 1:183239557-183239557 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1352A>G; p.N451S; 1:183227581-183227581 |
bone; femur | chondrosarcoma | Substitution - Missense |
c.3311G>A; p.G1104D; 1:183240374-183240374 |
liver | carcinoma | Substitution - Missense |
c.984C>T; p.S328S; 1:183225638-183225638 |
liver | carcinoma | Substitution - coding silent |
c.372G>A; p.T124T; 1:183215556-183215556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.781C>G; p.Q261E; 1:183223152-183223152 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1384T>C; p.C462R; 1:183227613-183227613 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - Missense |
c.571G>A; p.G191R; 1:183220892-183220892 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1757G>A; p.R586Q; 1:183231003-183231003 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.427C>A; p.P143T; 1:183218412-183218412 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.427C>A; p.P143T; 1:183218412-183218412 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.3312C>T; p.G1104G; 1:183240375-183240375 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.427C>A; p.P143T; 1:183218412-183218412 |
pancreas | pancreatic_intraepithelial_neoplasia_(PanIN) | Substitution - Missense |
c.2266A>G; p.S756G; 1:183234412-183234412 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.776G>A; p.G259E; 1:183223147-183223147 |
skin | malignant_melanoma | Substitution - Missense |
c.439G>A; p.A147T; 1:183218424-183218424 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2278G>C; p.E760Q; 1:183234424-183234424 |
liver | carcinoma | Substitution - Missense |
c.697T>C; p.S233P; 1:183222145-183222145 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2726T>A; p.L909H; 1:183237476-183237476 |
liver | carcinoma | Substitution - Missense |
c.2726T>A; p.L909H; 1:183237476-183237476 |
liver | carcinoma | Substitution - Missense |
c.65C>T; p.T22I; 1:183186417-183186417 |
skin | malignant_melanoma | Substitution - Missense |
c.3229-2A>G; p.?; 1:183240290-183240290 |
liver | carcinoma | Unknown |
c.3229-2A>G; p.?; 1:183240290-183240290 |
liver | carcinoma | Unknown |
c.993G>A; p.L331L; 1:183225647-183225647 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1409G>T; p.C470F; 1:183227638-183227638 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.2510C>T; p.A837V; 1:183236513-183236513 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1362C>T; p.H454H; 1:183227591-183227591 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.668G>A; p.R223Q; 1:183222116-183222116 |
skin | malignant_melanoma | Substitution - Missense |
c.668G>A; p.R223Q; 1:183222116-183222116 |
skin | malignant_melanoma | Substitution - Missense |
c.3270C>T; p.N1090N; 1:183240333-183240333 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2355T>G; p.Y785*; 1:183235629-183235629 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.1067-2A>C; p.?; 1:183226696-183226696 |
ovary | carcinoma; serous_carcinoma | Unknown |
c.3448C>T; p.R1150C; 1:183243266-183243266 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.3544C>G; p.P1182A; 1:183243362-183243362 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1358C>T; p.P453L; 1:183227587-183227587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1358C>T; p.P453L; 1:183227587-183227587 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3297C>T; p.L1099L; 1:183240360-183240360 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.590G>A; p.R197H; 1:183220911-183220911 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.196G>T; p.E66*; 1:183207997-183207997 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1686G>A; p.L562L; 1:183228591-183228591 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.2245G>A; p.V749M; 1:183234391-183234391 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.220C>T; p.R74W; 1:183208021-183208021 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2962G>C; p.D988H; 1:183239456-183239456 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1833T>G; p.A611A; 1:183231079-183231079 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.983G>A; p.S328N; 1:183225637-183225637 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.396G>C; p.Q132H; 1:183215580-183215580 |
breast | carcinoma | Substitution - Missense |
c.2776C>T; p.R926C; 1:183238328-183238328 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1710T>C; p.C570C; 1:183228615-183228615 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.698C>T; p.S233L; 1:183222146-183222146 |
skin | malignant_melanoma | Substitution - Missense |
c.1105C>T; p.R369C; 1:183226736-183226736 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2798G>A; p.R933K; 1:183238350-183238350 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1105C>T; p.R369C; 1:183226736-183226736 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1105C>T; p.R369C; 1:183226736-183226736 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2321A>G; p.N774S; 1:183235595-183235595 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.493C>T; p.R165C; 1:183218478-183218478 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185A>G; p.S729G; 1:183232822-183232822 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.2444G>T; p.G815V; 1:183235718-183235718 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2146G>C; p.V716L; 1:183232783-183232783 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1481A>G; p.E494G; 1:183228386-183228386 |
skin | malignant_melanoma | Substitution - Missense |
c.283C>T; p.R95*; 1:183215467-183215467 |
skin; trunk | malignant_melanoma; nodular | Substitution - Nonsense |
c.1023G>A; p.R341R; 1:183225677-183225677 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1467C>T; p.T489T; 1:183227696-183227696 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.513A>G; p.S171S; 1:183220834-183220834 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.134G>A; p.R45K; 1:183207935-183207935 |
skin | malignant_melanoma | Substitution - Missense |
c.2370C>T; p.L790L; 1:183235644-183235644 |
skin | malignant_melanoma | Substitution - coding silent |
c.1458C>G; p.P486P; 1:183227687-183227687 |
skin | malignant_melanoma | Substitution - coding silent |
c.2812C>G; p.L938V; 1:183238364-183238364 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.195C>T; p.C65C; 1:183207996-183207996 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.195C>T; p.C65C; 1:183207996-183207996 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.122G>T; p.R41L; 1:183207923-183207923 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.142G>T; p.G48C; 1:183207943-183207943 |
skin | malignant_melanoma | Substitution - Missense |
c.2450T>A; p.V817E; 1:183235724-183235724 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2716G>A; p.A906T; 1:183237466-183237466 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.161T>A; p.L54H; 1:183207962-183207962 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.514G>A; p.G172S; 1:183220835-183220835 |
skin | malignant_melanoma | Substitution - Missense |
c.2634G>A; p.A878A; 1:183237384-183237384 |
liver | carcinoma | Substitution - coding silent |
c.2634G>A; p.A878A; 1:183237384-183237384 |
liver | carcinoma | Substitution - coding silent |
c.2358C>A; p.S786S; 1:183235632-183235632 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - coding silent |
c.2358C>A; p.S786S; 1:183235632-183235632 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2595C>G; p.S865S; 1:183236598-183236598 |
skin | malignant_melanoma | Substitution - coding silent |
c.2358C>A; p.S786S; 1:183235632-183235632 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - coding silent |
c.2358C>A; p.S786S; 1:183235632-183235632 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - coding silent |
c.971G>T; p.S324I; 1:183225625-183225625 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2853C>G; p.I951M; 1:183238405-183238405 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2086G>A; p.D696N; 1:183232723-183232723 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.202T>C; p.C68R; 1:183208003-183208003 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1359G>A; p.P453P; 1:183227588-183227588 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2428G>A; p.G810S; 1:183235702-183235702 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2394T>A; p.H798Q; 1:183235668-183235668 |
breast | carcinoma | Substitution - Missense |
c.688C>T; p.L230F; 1:183222136-183222136 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3452A>G; p.Q1151R; 1:183243270-183243270 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2989C>A; p.L997M; 1:183239483-183239483 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1100C>T; p.S367L; 1:183226731-183226731 |
skin | malignant_melanoma | Substitution - Missense |
c.986C>A; p.P329H; 1:183225640-183225640 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1100C>T; p.S367L; 1:183226731-183226731 |
skin | malignant_melanoma | Substitution - Missense |
c.2733G>A; p.Q911Q; 1:183237483-183237483 |
skin | malignant_melanoma | Substitution - coding silent |
c.3058G>T; p.E1020*; 1:183239552-183239552 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.3386G>A; p.R1129Q; 1:183243204-183243204 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.166T>C; p.C56R; 1:183207967-183207967 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1398C>T; p.N466N; 1:183227627-183227627 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1784C>T; p.P595L; 1:183231030-183231030 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.2116C>T; p.R706W; 1:183232753-183232753 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2116C>T; p.R706W; 1:183232753-183232753 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3228+4A>T; p.?; 1:183240202-183240202 |
liver | carcinoma | Unknown |
c.2663A>C; p.H888P; 1:183237413-183237413 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.1639G>C; p.G547R; 1:183228544-183228544 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.2590C>T; p.Q864*; 1:183236593-183236593 |
skin; neck | malignant_melanoma | Substitution - Nonsense |
c.2149C>T; p.R717W; 1:183232786-183232786 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2149C>T; p.R717W; 1:183232786-183232786 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2149C>T; p.R717W; 1:183232786-183232786 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.772C>T; p.L258F; 1:183223143-183223143 |
skin | malignant_melanoma | Substitution - Missense |
c.772C>T; p.L258F; 1:183223143-183223143 |
skin | malignant_melanoma | Substitution - Missense |
c.3137T>C; p.L1046P; 1:183240107-183240107 |
liver | carcinoma | Substitution - Missense |
c.3137T>C; p.L1046P; 1:183240107-183240107 |
liver | carcinoma | Substitution - Missense |
c.2678A>T; p.K893M; 1:183237428-183237428 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.691C>A; p.Q231K; 1:183222139-183222139 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.745G>T; p.V249F; 1:183222193-183222193 |
pancreas | carcinoma | Substitution - Missense |
c.745G>T; p.V249F; 1:183222193-183222193 |
pancreas | carcinoma | Substitution - Missense |
c.892G>A; p.A298T; 1:183223263-183223263 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.2863C>T; p.L955F; 1:183238415-183238415 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2885T>G; p.V962G; 1:183239379-183239379 |
breast | carcinoma | Substitution - Missense |
c.2997C>T; p.S999S; 1:183239491-183239491 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2997C>T; p.S999S; 1:183239491-183239491 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1046G>A; p.R349Q; 1:183225700-183225700 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.539A>T; p.N180I; 1:183220860-183220860 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2801C>T; p.A934V; 1:183238353-183238353 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.3337C>T; p.L1113F; 1:183243155-183243155 |
skin | malignant_melanoma | Substitution - Missense |
c.2785C>T; p.L929F; 1:183238337-183238337 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1408T>C; p.C470R; 1:183227637-183227637 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.2334G>A; p.L778L; 1:183235608-183235608 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.605A>G; p.Y202C; 1:183220926-183220926 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.162C>A; p.L54L; 1:183207963-183207963 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1082A>C; p.D361A; 1:183226713-183226713 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2839G>C; p.E947Q; 1:183238391-183238391 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.238C>T; p.R80C; 1:183208039-183208039 |
breast | carcinoma | Substitution - Missense |
c.447C>G; p.P149P; 1:183218432-183218432 |
pancreas | carcinoma | Substitution - coding silent |
c.2805A>G; p.Q935Q; 1:183238357-183238357 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.3416G>A; p.R1139Q; 1:183243234-183243234 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.3416G>A; p.R1139Q; 1:183243234-183243234 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.798T>G; p.G266G; 1:183223169-183223169 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.3033C>T; p.A1011A; 1:183239527-183239527 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.798T>G; p.G266G; 1:183223169-183223169 |
thyroid | other; neoplasm | Substitution - coding silent |
c.589C>T; p.R197C; 1:183220910-183220910 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.589C>T; p.R197C; 1:183220910-183220910 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2443_2444GG>AA; p.G815K; 1:183235717-183235718 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.3154G>C; p.E1052Q; 1:183240124-183240124 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2541C>G; p.H847Q; 1:183236544-183236544 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.3546A>G; p.P1182P; 1:183243364-183243364 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |