| Gene ID | 1048 |
| Symbol | CEACAM5 |
| Synonymous | CD66e|CEA |
| Full name | carcinoembryonic antigen-related cell adhesion molecule 5 |
| Gene description | meconium antigen 100 |
| Cytoband | 19q13.1-q13.2 |
| Gene type | protein-coding |
| Synonymous | MIM:114890; HGNC:HGNC:1817; Ensembl:ENSG00000105388; HPRD:00274; Vega:OTTHUMG00000151061 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1359G>A; p.G453G; 19:41718249-41718249 |
skin | malignant_melanoma | Substitution - coding silent |
c.1792A>G; p.I598V; 19:41720942-41720942 |
liver | carcinoma | Substitution - Missense |
c.757G>A; p.E253K; 19:41715703-41715703 |
skin | malignant_melanoma | Substitution - Missense |
c.757G>A; p.E253K; 19:41715703-41715703 |
skin | malignant_melanoma | Substitution - Missense |
c.1999T>C; p.S667P; 19:41721149-41721149 |
skin | malignant_melanoma | Substitution - Missense |
c.512C>A; p.T171N; 19:41715058-41715058 |
skin; sole | malignant_melanoma; acral_lentiginous | Substitution - Missense |
c.1832T>C; p.L611P; 19:41720982-41720982 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1809G>A; p.S603S; 19:41720959-41720959 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.122C>G; p.T41R; 19:41709737-41709737 |
breast | carcinoma | Substitution - Missense |
c.959-8C>A; p.?; 19:41717447-41717447 |
biliary_tract; gallbladder | carcinoma; adenocarcinoma | Unknown |
c.1808C>T; p.S603L; 19:41720958-41720958 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.90G>T; p.P30P; 19:41709705-41709705 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.875A>G; p.N292S; 19:41715821-41715821 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1976A>G; p.N659S; 19:41721126-41721126 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1659C>A; p.N553K; 19:41720096-41720096 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.715G>A; p.A239T; 19:41715661-41715661 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.199T>A; p.W67R; 19:41709814-41709814 |
autonomic_ganglia | neuroblastoma | Substitution - Missense |
c.517G>A; p.D173N; 19:41715063-41715063 |
breast | carcinoma; ductal_carcinoma | Substitution - Missense |
c.1009G>A; p.D337N; 19:41717505-41717505 |
breast | carcinoma | Substitution - Missense |
c.1820C>T; p.S607L; 19:41720970-41720970 |
skin; trunk | malignant_melanoma | Substitution - Missense |
c.1820C>T; p.S607L; 19:41720970-41720970 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1820C>T; p.S607L; 19:41720970-41720970 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1820C>T; p.S607L; 19:41720970-41720970 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.710C>T; p.P237L; 19:41715656-41715656 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1270T>C; p.Y424H; 19:41718160-41718160 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1005G>A; p.V335V; 19:41717501-41717501 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.710C>T; p.P237L; 19:41715656-41715656 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1795_1796insC; p.D602fs*19; 19:41720945-41720946 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.2039C>T; p.S680F; 19:41727246-41727246 |
skin | malignant_melanoma | Substitution - Missense |
c.1236C>T; p.L412L; 19:41717732-41717732 |
skin | malignant_melanoma | Substitution - coding silent |
c.1548G>A; p.K516K; 19:41719985-41719985 |
skin | malignant_melanoma | Substitution - coding silent |
c.1257C>T; p.T419T; 19:41718147-41718147 |
skin | malignant_melanoma | Substitution - coding silent |
c.1815C>T; p.Y605Y; 19:41720965-41720965 |
skin | malignant_melanoma | Substitution - coding silent |
c.1742G>A; p.R581H; 19:41720179-41720179 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.771C>A; p.L257L; 19:41715717-41715717 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1742G>A; p.R581H; 19:41720179-41720179 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - Missense |
c.1695C>T; p.D565D; 19:41720132-41720132 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.91C>A; p.P31T; 19:41709706-41709706 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.963G>A; p.E321E; 19:41717459-41717459 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.1973C>T; p.S658F; 19:41721123-41721123 |
skin | malignant_melanoma | Substitution - Missense |
c.229C>T; p.R77C; 19:41709844-41709844 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1318G>C; p.A440P; 19:41718208-41718208 |
soft_tissue; striated_muscle | rhabdomyosarcoma | Substitution - Missense |
c.1826C>T; p.A609V; 19:41720976-41720976 |
ovary | other; neoplasm | Substitution - Missense |
c.65-2A>G; p.?; 19:41709678-41709678 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1871A>T; p.Q624L; 19:41721021-41721021 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.297G>A; p.E99E; 19:41709912-41709912 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.254G>A; p.G85E; 19:41709869-41709869 |
skin | malignant_melanoma | Substitution - Missense |
c.274G>C; p.G92R; 19:41709889-41709889 |
thyroid | carcinoma | Substitution - Missense |
c.1696G>A; p.A566T; 19:41720133-41720133 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.220G>A; p.D74N; 19:41709835-41709835 |
skin | malignant_melanoma | Substitution - Missense |
c.604C>A; p.L202I; 19:41715150-41715150 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1307C>T; p.S436F; 19:41718197-41718197 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1827G>A; p.A609A; 19:41720977-41720977 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1827G>A; p.A609A; 19:41720977-41720977 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.761A>T; p.N254I; 19:41715707-41715707 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1819T>C; p.S607P; 19:41720969-41720969 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1668C>T; p.L556L; 19:41720105-41720105 |
skin | malignant_melanoma | Substitution - coding silent |
c.278_279CC>TT; p.P93L; 19:41709893-41709894 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1727C>T; p.S576L; 19:41720164-41720164 |
skin | malignant_melanoma | Substitution - Missense |
c.585T>C; p.N195N; 19:41715131-41715131 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1549G>A; p.D517N; 19:41719986-41719986 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1727C>T; p.S576L; 19:41720164-41720164 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.424C>G; p.P142A; 19:41710039-41710039 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1002C>T; p.P334P; 19:41717498-41717498 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1002C>T; p.P334P; 19:41717498-41717498 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - coding silent |
c.110C>T; p.T37I; 19:41709725-41709725 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Substitution - Missense |
c.1517C>A; p.S506Y; 19:41719954-41719954 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.879T>C; p.N293N; 19:41715825-41715825 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.557C>T; p.P186L; 19:41715103-41715103 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1646T>A; p.L549Q; 19:41720083-41720083 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.293G>T; p.R98L; 19:41709908-41709908 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.498C>A; p.T166T; 19:41715044-41715044 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.2093G>T; p.G698V; 19:41727300-41727300 |
skin | malignant_melanoma | Substitution - Missense |
c.2067C>T; p.V689V; 19:41727274-41727274 |
skin | malignant_melanoma | Substitution - coding silent |
c.1789A>T; p.I597F; 19:41720939-41720939 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.211G>A; p.E71K; 19:41709826-41709826 |
skin | malignant_melanoma | Substitution - Missense |
c.1938G>A; p.T646T; 19:41721088-41721088 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.177C>A; p.P59P; 19:41709792-41709792 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.1265C>T; p.P422L; 19:41718155-41718155 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.755G>A; p.G252E; 19:41715701-41715701 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.1537G>A; p.V513M; 19:41719974-41719974 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.702C>T; p.L234L; 19:41715248-41715248 |
skin | malignant_melanoma | Substitution - coding silent |
c.469G>A; p.V157M; 19:41715015-41715015 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1737A>C; p.A579A; 19:41720174-41720174 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.469G>A; p.V157M; 19:41715015-41715015 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1383G>T; p.E461D; 19:41718273-41718273 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1130C>A; p.T377N; 19:41717626-41717626 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1154G>A; p.R385K; 19:41717650-41717650 |
skin; acral | malignant_melanoma | Substitution - Missense |
c.1776G>A; p.G592G; 19:41720926-41720926 |
thyroid | carcinoma | Substitution - coding silent |
c.797C>A; p.P266H; 19:41715743-41715743 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2060C>T; p.A687V; 19:41727267-41727267 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1918C>A; p.L640I; 19:41721068-41721068 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1918C>A; p.L640I; 19:41721068-41721068 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1918C>A; p.L640I; 19:41721068-41721068 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1950C>T; p.N650N; 19:41721100-41721100 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.227A>C; p.N76T; 19:41709842-41709842 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1898C>T; p.P633L; 19:41721048-41721048 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1526A>C; p.N509T; 19:41719963-41719963 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1861C>A; p.P621T; 19:41721011-41721011 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1888A>G; p.N630D; 19:41721038-41721038 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1439A>C; p.N480T; 19:41718329-41718329 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.551G>A; p.S184N; 19:41715097-41715097 |
skin; arm | malignant_melanoma | Substitution - Missense |
c.1601G>A; p.W534*; 19:41720038-41720038 |
skin; hand | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.586G>C; p.G196R; 19:41715132-41715132 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.425C>A; p.P142Q; 19:41714971-41714971 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.209G>C; p.G70A; 19:41709824-41709824 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1840T>C; p.S614P; 19:41720990-41720990 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.471G>A; p.V157V; 19:41715017-41715017 |
skin | malignant_melanoma | Substitution - coding silent |
c.1003G>A; p.V335M; 19:41717499-41717499 |
thyroid | other; neoplasm | Substitution - Missense |
c.537G>T; p.W179C; 19:41715083-41715083 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.1417G>A; p.G473R; 19:41718307-41718307 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1417G>A; p.G473R; 19:41718307-41718307 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.2025T>A; p.S675S; 19:41721175-41721175 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.77C>A; p.T26N; 19:41709692-41709692 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1183A>C; p.I395L; 19:41717679-41717679 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.893C>T; p.T298M; 19:41715839-41715839 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.571C>T; p.L191L; 19:41715117-41715117 |
skin | malignant_melanoma | Substitution - coding silent |
c.893C>T; p.T298M; 19:41715839-41715839 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.893C>T; p.T298M; 19:41715839-41715839 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; marginal_zone_lymphoma | Substitution - Missense |
c.334A>G; p.I112V; 19:41709949-41709949 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1348C>T; p.L450L; 19:41718238-41718238 |
skin | malignant_melanoma | Substitution - coding silent |
c.1796C>T; p.S599F; 19:41720946-41720946 |
skin | malignant_melanoma | Substitution - Missense |
c.1796C>T; p.S599F; 19:41720946-41720946 |
skin | malignant_melanoma | Substitution - Missense |
c.830T>G; p.F277C; 19:41715776-41715776 |
liver | carcinoma | Substitution - Missense |
c.830T>G; p.F277C; 19:41715776-41715776 |
liver | carcinoma | Substitution - Missense |
c.1593C>T; p.T531T; 19:41720030-41720030 |
skin | malignant_melanoma | Substitution - coding silent |
c.2080G>A; p.G694R; 19:41727287-41727287 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Missense |
c.317C>T; p.S106F; 19:41709932-41709932 |
skin | malignant_melanoma | Substitution - Missense |
c.1663A>G; p.T555A; 19:41720100-41720100 |
skin | malignant_melanoma | Substitution - Missense |
c.414C>G; p.F138L; 19:41710029-41710029 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.317C>T; p.S106F; 19:41709932-41709932 |
skin | malignant_melanoma | Substitution - Missense |
c.672G>A; p.R224R; 19:41715218-41715218 |
bone; extraskeletal | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.414C>G; p.F138L; 19:41710029-41710029 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1778C>T; p.P593L; 19:41720928-41720928 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1573C>T; p.P525S; 19:41720010-41720010 |
skin | malignant_melanoma | Substitution - Missense |
c.818T>G; p.V273G; 19:41715764-41715764 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.151G>C; p.V51L; 19:41709766-41709766 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.327C>T; p.I109I; 19:41709942-41709942 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.480G>A; p.K160K; 19:41715026-41715026 |
skin | malignant_melanoma | Substitution - coding silent |
c.1329A>C; p.P443P; 19:41718219-41718219 |
breast | carcinoma | Substitution - coding silent |
c.945G>A; p.T315T; 19:41715891-41715891 |
skin; trunk | malignant_melanoma; nodular | Substitution - coding silent |
c.2047C>T; p.L683F; 19:41727254-41727254 |
skin | malignant_melanoma | Substitution - Missense |
c.758A>G; p.E253G; 19:41715704-41715704 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.632C>A; p.A211E; 19:41715178-41715178 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1836C>A; p.N612K; 19:41720986-41720986 |
ovary | other; neoplasm | Substitution - Missense |
c.1563C>T; p.F521F; 19:41720000-41720000 |
skin | malignant_melanoma | Substitution - coding silent |
c.994T>G; p.S332A; 19:41717490-41717490 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1100C>T; p.P367L; 19:41717596-41717596 |
skin | malignant_melanoma | Substitution - Missense |
c.1100C>T; p.P367L; 19:41717596-41717596 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.1642C>T; p.Q548*; 19:41720079-41720079 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.1011T>C; p.D337D; 19:41717507-41717507 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.535T>C; p.W179R; 19:41715081-41715081 |
skin | malignant_melanoma | Substitution - Missense |
c.416G>A; p.R139Q; 19:41710031-41710031 |
skin; scalp | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.2076G>T; p.M692I; 19:41727283-41727283 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Substitution - Missense |
c.566C>A; p.P189H; 19:41715112-41715112 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1850C>T; p.S617L; 19:41721000-41721000 |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1140A>G; p.L380L; 19:41717636-41717636 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.625G>A; p.D209N; 19:41715171-41715171 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1246G>A; p.D416N; 19:41718136-41718136 |
skin | malignant_melanoma | Substitution - Missense |
c.129C>T; p.F43F; 19:41709744-41709744 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.2027-8C>T; p.?; 19:41727226-41727226 |
kidney | other; neoplasm | Unknown |
c.468C>A; p.P156P; 19:41715014-41715014 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.2024C>T; p.S675F; 19:41721174-41721174 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1535C>T; p.P512L; 19:41719972-41719972 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.673C>T; p.R225C; 19:41715219-41715219 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma | Substitution - Missense |
c.673C>T; p.R225C; 19:41715219-41715219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.673C>T; p.R225C; 19:41715219-41715219 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1262C>T; p.S421F; 19:41718152-41718152 |
skin | malignant_melanoma | Substitution - Missense |
c.472G>A; p.E158K; 19:41715018-41715018 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1430G>T; p.C477F; 19:41718320-41718320 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.887C>T; p.S296F; 19:41715833-41715833 |
skin | malignant_melanoma | Substitution - Missense |
c.333C>T; p.N111N; 19:41709948-41709948 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.481G>A; p.D161N; 19:41715027-41715027 |
skin | malignant_melanoma | Substitution - Missense |
c.924C>A; p.L308L; 19:41715870-41715870 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.481G>A; p.D161N; 19:41715027-41715027 |
skin | malignant_melanoma | Substitution - Missense |
c.1227G>A; p.L409L; 19:41717723-41717723 |
skin | malignant_melanoma | Substitution - coding silent |
c.410A>C; p.Q137P; 19:41710025-41710025 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1120G>T; p.D374Y; 19:41717616-41717616 |
prostate | adenoma | Substitution - Missense |
c.519C>T; p.D173D; 19:41715065-41715065 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.1767C>T; p.V589V; 19:41720204-41720204 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - coding silent |
c.2058G>A; p.G686G; 19:41727265-41727265 |
skin | malignant_melanoma | Substitution - coding silent |
c.1085G>A; p.S362N; 19:41717581-41717581 |
skin | malignant_melanoma | Substitution - Missense |
c.89C>T; p.P30L; 19:41709704-41709704 |
breast | carcinoma | Substitution - Missense |
c.1397A>G; p.N466S; 19:41718287-41718287 |
skin; upper_back | malignant_melanoma | Substitution - Missense |
c.538G>A; p.V180I; 19:41715084-41715084 |
skin | malignant_melanoma | Substitution - Missense |
c.406G>A; p.G136S; 19:41710021-41710021 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |