| Gene ID | 10392 |
| Symbol | NOD1 |
| Synonymous | CARD4|CLR7.1|NLRC1 |
| Full name | nucleotide-binding oligomerization domain containing 1 |
| Gene description | NLR family, CARD domain containing 1|caspase recruitment domain family, member 4|caspase recruitment domain-containing protein 4|nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1|nucleotide-binding oligomerization |
| Cytoband | 7p14.3 |
| Gene type | protein-coding |
| Synonymous | MIM:605980; HGNC:HGNC:16390; Ensembl:ENSG00000106100; HPRD:05815; Vega:OTTHUMG00000023923 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.849C>T; p.F283F; 7:30452568-30452568 |
skin | malignant_melanoma | Substitution - coding silent |
c.678A>C; p.A226A; 7:30452739-30452739 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.249C>T; p.S83S; 7:30455264-30455264 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1653G>T; p.A551A; 7:30451764-30451764 |
thyroid | carcinoma | Substitution - coding silent |
c.977C>T; p.A326V; 7:30452440-30452440 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.88C>T; p.L30L; 7:30456834-30456834 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1908C>T; p.P636P; 7:30451509-30451509 |
skin | malignant_melanoma | Substitution - coding silent |
c.1908C>T; p.P636P; 7:30451509-30451509 |
skin | malignant_melanoma | Substitution - coding silent |
c.88C>T; p.L30L; 7:30456834-30456834 |
skin | malignant_melanoma | Substitution - coding silent |
c.2237A>C; p.K746T; 7:30448346-30448346 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2604G>A; p.T868T; 7:30436015-30436015 |
pancreas | carcinoma | Substitution - coding silent |
c.2583G>A; p.A861A; 7:30436036-30436036 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.414C>T; p.G138G; 7:30453003-30453003 |
skin | malignant_melanoma | Substitution - coding silent |
c.2583G>A; p.A861A; 7:30436036-30436036 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.680G>T; p.G227V; 7:30452737-30452737 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.931delC; p.L311fs*65; 7:30452486-30452486 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.931delC; p.L311fs*65; 7:30452486-30452486 |
large_intestine | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.1517C>T; p.P506L; 7:30451900-30451900 |
skin | malignant_melanoma | Substitution - Missense |
c.794C>T; p.P265L; 7:30452623-30452623 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.621C>A; p.G207G; 7:30452796-30452796 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1314C>A; p.P438P; 7:30452103-30452103 |
prostate | carcinoma; adenocarcinoma | Substitution - coding silent |
c.703C>T; p.R235C; 7:30452714-30452714 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2092G>A; p.V698I; 7:30451325-30451325 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2721G>T; p.Q907H; 7:30429442-30429442 |
breast | carcinoma | Substitution - Missense |
c.2285+2T>C; p.?; 7:30448296-30448296 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.2413G>A; p.A805T; 7:30446181-30446181 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185C>T; p.R729C; 7:30451232-30451232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2185C>T; p.R729C; 7:30451232-30451232 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2202-1G>C; p.?; 7:30448382-30448382 |
oesophagus | carcinoma; adenocarcinoma | Unknown |
c.1149_1150CC>TT; p.L384F; 7:30452267-30452268 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.291C>T; p.Y97Y; 7:30455222-30455222 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1722G>A; p.A574A; 7:30451695-30451695 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1722G>A; p.A574A; 7:30451695-30451695 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.468G>T; p.E156D; 7:30452949-30452949 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1911C>T; p.R637R; 7:30451506-30451506 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.57C>T; p.H19H; 7:30456865-30456865 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2236A>G; p.K746E; 7:30448347-30448347 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1970G>A; p.R657H; 7:30451447-30451447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.513T>C; p.N171N; 7:30452904-30452904 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1970G>A; p.R657H; 7:30451447-30451447 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1025T>A; p.F342Y; 7:30452392-30452392 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.880G>A; p.D294N; 7:30452537-30452537 |
pancreas | carcinoma | Substitution - Missense |
c.2258C>T; p.T753I; 7:30448325-30448325 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.1331G>A; p.R444Q; 7:30452086-30452086 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.1019G>C; p.R340P; 7:30452398-30452398 |
skin | malignant_melanoma | Substitution - Missense |
c.880G>A; p.D294N; 7:30452537-30452537 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.2307C>T; p.T769T; 7:30447029-30447029 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2510G>A; p.R837Q; 7:30437600-30437600 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1103G>A; p.R368Q; 7:30452314-30452314 |
liver | carcinoma | Substitution - Missense |
c.1103G>A; p.R368Q; 7:30452314-30452314 |
liver | carcinoma | Substitution - Missense |
c.2805G>A; p.L935L; 7:30425695-30425695 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.1477A>G; p.M493V; 7:30451940-30451940 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.331C>T; p.P111S; 7:30455182-30455182 |
skin | malignant_melanoma | Substitution - Missense |
c.1025T>C; p.F342S; 7:30452392-30452392 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.929C>T; p.P310L; 7:30452488-30452488 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2413G>T; p.A805S; 7:30446181-30446181 |
liver | carcinoma | Substitution - Missense |
c.2413G>T; p.A805S; 7:30446181-30446181 |
liver | carcinoma | Substitution - Missense |
c.675C>T; p.D225D; 7:30452742-30452742 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.675C>T; p.D225D; 7:30452742-30452742 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.586G>A; p.E196K; 7:30452831-30452831 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1623C>T; p.L541L; 7:30451794-30451794 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.102C>T; p.I34I; 7:30456820-30456820 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.627C>T; p.S209S; 7:30452790-30452790 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.627C>T; p.S209S; 7:30452790-30452790 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2248G>A; p.E750K; 7:30448335-30448335 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1098C>T; p.P366P; 7:30452319-30452319 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2059G>A; p.A687T; 7:30451358-30451358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.483C>T; p.D161D; 7:30452934-30452934 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1345C>T; p.P449S; 7:30452072-30452072 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.483C>T; p.D161D; 7:30452934-30452934 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2629C>G; p.Q877E; 7:30433172-30433172 |
breast | carcinoma | Substitution - Missense |
c.1059C>A; p.S353S; 7:30452358-30452358 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1145C>T; p.P382L; 7:30452272-30452272 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1253C>T; p.T418M; 7:30452164-30452164 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1519G>A; p.G507R; 7:30451898-30451898 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.915G>A; p.W305*; 7:30452502-30452502 |
skin | malignant_melanoma | Substitution - Nonsense |
c.276A>C; p.Q92H; 7:30455237-30455237 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.563C>T; p.T188I; 7:30452854-30452854 |
skin | malignant_melanoma | Substitution - Missense |
c.642G>A; p.R214R; 7:30452775-30452775 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2471T>C; p.V824A; 7:30437639-30437639 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.298C>T; p.L100F; 7:30455215-30455215 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.570C>A; p.I190I; 7:30452847-30452847 |
oesophagus; upper_third | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1298T>C; p.L433P; 7:30452119-30452119 |
skin | malignant_melanoma | Substitution - Missense |
c.2817G>T; p.E939D; 7:30425683-30425683 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1319G>A; p.S440N; 7:30452098-30452098 |
breast | carcinoma | Substitution - Missense |
c.690C>A; p.F230L; 7:30452727-30452727 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2102A>G; p.H701R; 7:30451315-30451315 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1074C>T; p.R358R; 7:30452343-30452343 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.690C>A; p.F230L; 7:30452727-30452727 |
skin | malignant_melanoma | Substitution - Missense |
c.2066C>T; p.S689L; 7:30451351-30451351 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.693C>T; p.F231F; 7:30452724-30452724 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.889C>T; p.R297C; 7:30452528-30452528 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1150C>A; p.L384I; 7:30452267-30452267 |
breast | carcinoma | Substitution - Missense |
c.1916A>G; p.Q639R; 7:30451501-30451501 |
soft_tissue; striated_muscle | rhabdomyosarcoma; embryonal | Substitution - Missense |
c.1903C>A; p.L635M; 7:30451514-30451514 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2831A>G; p.Y944C; 7:30425669-30425669 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Missense |
c.1646C>T; p.P549L; 7:30451771-30451771 |
skin; face | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.394C>A; p.Q132K; 7:30453023-30453023 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.717C>T; p.F239F; 7:30452700-30452700 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2663T>C; p.L888S; 7:30433138-30433138 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1723C>T; p.R575W; 7:30451694-30451694 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1518C>T; p.P506P; 7:30451899-30451899 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2644G>A; p.D882N; 7:30433157-30433157 |
liver | carcinoma | Substitution - Missense |
c.2644G>A; p.D882N; 7:30433157-30433157 |
liver | carcinoma | Substitution - Missense |
c.1692G>A; p.P564P; 7:30451725-30451725 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.378G>A; p.V126V; 7:30453039-30453039 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2256G>T; p.L752L; 7:30448327-30448327 |
liver | carcinoma | Substitution - coding silent |
c.2256G>T; p.L752L; 7:30448327-30448327 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2256G>T; p.L752L; 7:30448327-30448327 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - coding silent |
c.796G>A; p.E266K; 7:30452621-30452621 |
skin | malignant_melanoma | Substitution - Missense |
c.2067G>A; p.S689S; 7:30451350-30451350 |
stomach | carcinoma; diffuse_adenocarcinoma | Substitution - coding silent |
c.1431C>G; p.V477V; 7:30451986-30451986 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1278C>T; p.L426L; 7:30452139-30452139 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.796G>A; p.E266K; 7:30452621-30452621 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.796G>A; p.E266K; 7:30452621-30452621 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.796G>A; p.E266K; 7:30452621-30452621 |
thyroid | other; neoplasm | Substitution - Missense |
c.2838T>C; p.D946D; 7:30425662-30425662 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2394T>C; p.S798S; 7:30446200-30446200 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1667C>T; p.T556M; 7:30451750-30451750 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.228G>T; p.Q76H; 7:30455285-30455285 |
skin | malignant_melanoma | Substitution - Missense |
c.12G>T; p.Q4H; 7:30456910-30456910 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.2155G>A; p.G719S; 7:30451262-30451262 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1690C>T; p.P564S; 7:30451727-30451727 |
skin | malignant_melanoma | Substitution - Missense |
c.2802C>T; p.N934N; 7:30425698-30425698 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1022A>T; p.Q341L; 7:30452395-30452395 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.1022A>T; p.Q341L; 7:30452395-30452395 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.2656G>A; p.E886K; 7:30433145-30433145 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.2656G>A; p.E886K; 7:30433145-30433145 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1733T>C; p.L578P; 7:30451684-30451684 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1718C>T; p.P573L; 7:30451699-30451699 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1026C>T; p.F342F; 7:30452391-30452391 |
skin | malignant_melanoma | Substitution - coding silent |
c.2323T>A; p.Y775N; 7:30447013-30447013 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2651T>C; p.V884A; 7:30433150-30433150 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.2283G>T; p.L761F; 7:30448300-30448300 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2552G>A; p.G851D; 7:30436067-30436067 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.2564A>G; p.E855G; 7:30436055-30436055 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.155C>T; p.A52V; 7:30456767-30456767 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.2278T>C; p.Y760H; 7:30448305-30448305 |
liver | carcinoma | Substitution - Missense |
c.2278T>C; p.Y760H; 7:30448305-30448305 |
liver | carcinoma | Substitution - Missense |
c.668G>A; p.R223Q; 7:30452749-30452749 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.7G>C; p.E3Q; 7:30456915-30456915 |
breast | carcinoma | Substitution - Missense |
c.321C>T; p.I107I; 7:30455192-30455192 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2741C>A; p.A914D; 7:30429422-30429422 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.597C>T; p.F199F; 7:30452820-30452820 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.605G>A; p.G202D; 7:30452812-30452812 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2302A>G; p.I768V; 7:30447034-30447034 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.618G>A; p.V206V; 7:30452799-30452799 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2334A>C; p.K778N; 7:30447002-30447002 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2113C>A; p.R705R; 7:30451304-30451304 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2165A>G; p.E722G; 7:30451252-30451252 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1836C>T; p.A612A; 7:30451581-30451581 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2381_2382insA; p.N794fs*6; 7:30446212-30446213 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Insertion - Frameshift |
c.1A>C; p.M1L; 7:30456921-30456921 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.164C>T; p.A55V; 7:30456758-30456758 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.744G>T; p.L248L; 7:30452673-30452673 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2012C>T; p.A671V; 7:30451405-30451405 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.2012C>T; p.A671V; 7:30451405-30451405 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.1126A>G; p.S376G; 7:30452291-30452291 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1126A>G; p.S376G; 7:30452291-30452291 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.358G>A; p.V120M; 7:30455155-30455155 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.156C>G; p.A52A; 7:30456766-30456766 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.156C>G; p.A52A; 7:30456766-30456766 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.945C>T; p.A315A; 7:30452472-30452472 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2348G>A; p.C783Y; 7:30446988-30446988 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2622-7delT; p.?; 7:30433186-30433186 |
stomach | adenocarcinoma | Unknown |
c.2622-7delT; p.?; 7:30433186-30433186 |
stomach | adenocarcinoma | Unknown |
c.1031G>A; p.R344Q; 7:30452386-30452386 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1261C>G; p.L421V; 7:30452156-30452156 |
skin | malignant_melanoma | Substitution - Missense |
c.205C>T; p.R69C; 7:30455308-30455308 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.2446G>C; p.E816Q; 7:30446148-30446148 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.873G>A; p.S291S; 7:30452544-30452544 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.507C>T; p.F169F; 7:30452910-30452910 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.238G>T; p.E80*; 7:30455275-30455275 |
thyroid | other; neoplasm | Substitution - Nonsense |
c.2635_2637GAA>AAC; p.E879N; 7:30433164-30433166 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.2635_2637GAA>AAC; p.E879N; 7:30433164-30433166 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.811T>C; p.F271L; 7:30452606-30452606 |
skin; shoulder | malignant_melanoma | Substitution - Missense |
c.2161C>T; p.R721W; 7:30451256-30451256 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.561C>A; p.T187T; 7:30452856-30452856 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1925G>T; p.S642I; 7:30451492-30451492 |
ovary | other; neoplasm | Substitution - Missense |
c.1925G>T; p.S642I; 7:30451492-30451492 |
ovary | other; neoplasm | Substitution - Missense |
c.662C>T; p.T221M; 7:30452755-30452755 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |