The
TP53
Database
About
User Manual
Other Resources
Events
Release Notes
Search Germline Variant Data
Criteria to Include
Tumor
Topography
ADRENAL GLAND
ANUS
BILIARY TRACT
BLADDER
BONES (limbs)
BONES (other)
BRAIN
BREAST
CERVIX UTERI
COLON
COLORECTUM, NOS
CORPUS UTERI
DIGESTIVE ORGANS, NOS
ENDOCRINE GLANDS, NOS
ESOPHAGUS
EYE AND ADNEXA
FEMALE GENITAL ORG., NOS
GALLBLADDER
GUM
HEAD&NECK, NOS
HEART/MED/PLEURA
HEMATOP. SYSTEM
HYPOPHARYNX
KIDNEY
LARYNX
LIP
LIVER
LUNG
LYMPH NODES
MENINGES
MOUTH (floor)
MOUTH (other)
NASAL CAVITY
NASOPHARYNX
NERVES
OROPHARYNX
OTHER DIGESTIVE ORG.
OTHER ENDOCRINE Gl.
OTHER FEMALE GEN. ORG.
OTHER HEAD&NECK
OTHER MALE GEN. ORG.
OTHER RESPIR. SYST.
OTHER SITES
OTHER URINARY ORG.
OVARY
PALATE
PANCREAS
PAROTID GLAND
PENIS
PERITONEUM
PLACENTA
PROSTATE
PYRIFORM SINUS
RECTOSIGM. JUNCT.
RECTUM
RENAL PELVIS
SALIVARY GLAND
SINUSES
SKIN
SMALL INTESTINE
SOFT TISSUES
SPINAL CORD
STOMACH
TESTIS
THYMUS
THYROID
TONGUE (base)
TONGUE (other)
TONSIL
UNKNOWN SITE
UP. URINARY TARCT, NOS
URETER
URINARY TRACT, NOS
UTERUS
VAGINA
VULVA
Clear All
Add All
Morphology
Acinar cell carcinoma
Acute leukemia, NOS
Acute megakaryoblastic leukemia
Acute monocytic leukemia
Acute myeloid leukemia with maturation
Acute myeloid leukemia, M6 type
Acute myeloid leukemia, NOS
Acute myeloid leukemia, minimal differentiation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adenocarcinoid tumor
Adenocarcinoma in situ in adenomatous polyp
Adenocarcinoma in situ, NOS
Adenocarcinoma with squamous metaplasia
Adenocarcinoma, NOS
Adenocarcinoma, diffuse type (C16._)
Adenocarcinoma, endocervical type
Adenocarcinoma, intestinal type (C16._)
Adenocarcinoma, metastatic, NOS
Adenofibroma, NOS (C56.9)
Adenoid cystic carcinoma
Adenoma, NOS
Adenomatous polyposis coli (C18._)
Adenosarcoma
Adenosquamous carcinoma
Adrenal cortical adenoma, NOS (C74.0)
Adrenal cortical adenoma, clear cell (C74.0)
Adrenal cortical carcinoma (C74.0)
Adult T-cell leukemia/lymphoma (HTLV-1 positive)
Aggressive NK-cell leukemia
Aggressive fibromatosis
Alveolar rhabdomyosarcoma
Ameloblastoma, NOS
Anaplastic large cell lymphoma, T cell and null cell type
Angioimmunoblastic T-cell lymphoma
Angiomyolipoma
Angiomyoma
Apocrine adenocarcinoma
Askin tumor
Astroblastoma (C71._)
Astrocytoma, NOS (C71._)
Astrocytoma, anaplastic (C71._)
Atypical adenoma
Atypical carcinoid tumor
Atypical choroid plexus papilloma (C71.5)
Atypical fibrous histiocytoma
Atypical medullary carcinoma (C50._)
B Lymphoblastic leukemia/lymphoma with hypodiploidy (Hypodiploid ALL)
B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma
Barrett's esophagus
Basal cell carcinoma, NOS (C44._)
Basal cell carcinoma, nodular (C44._)
Basaloid carcinoma (C21.1)
Basosquamous carcinoma (C44._)
Benign fibrous histiocytoma
Bowen disease (C44._)
Brenner tumor, NOS (C56.9)
Brenner tumor, malignant (C56.9)
Bronchiolo-alveolar adenocarcinoma (C34._)
Burkitt cell leukemia
Burkitt lymphoma, NOS
Canalicular adenoma
Cancer, NOS
Carcinoid tumor of uncertain malignant potential
Carcinoid tumor, NOS (except of Appendix M-8240/1)
Carcinoma in pleomorphic adenoma (C07._, C08._)
Carcinoma in situ, NOS
Carcinoma with osteoclast-like giant cells
Carcinoma, NOS
Carcinoma, anaplastic, NOS
Carcinoma, metastatic, NOS
Carcinoma, undifferentiated, NOS
Carcinosarcoma, NOS
Central neurocytoma
Cholangiocarcinoma (C22.1, C24.0)
Chondroblastic osteosarcoma (C40._, C41._)
Chondrosarcoma, NOS (C40._, C41._)
Chordoma, NOS
Choriocarcinoma, NOS
Choroid plexus carcinoma (C71.5)
Choroid plexus papilloma, NOS (C71.5)
Chronic myeloid leukemia, NOS
Chronic myelomonocytic leukemia, NOS
Clear cell adenocarcinofibroma (C56.9)
Clear cell adenocarcinoma, NOS
Clear cell sarcoma of kidney (C64.9)
Clear cell sarcoma, NOS (except of Kidney M-8964/3)
Combined hepatocellular carcinoma and cholangiocarcinoma (C22.0)
Combined small cell carcinoma
Comedocarcinoma, NOS (C50._)
Comedocarcinoma, noninfiltrating (C50._)
Cribriform carcinoma in situ (C50._)
Cribriform carcinoma, NOS
Cutaneous T-cell lymphoma, NOS (C44._)
Cystadenocarcinoma, NOS
Cystadenoma, NOS
Dedifferentiated chondrosarcoma (C40._, C41._)
Dermatofibroma, NOS (C44._)
Dermatofibrosarcoma, NOS (C44._)
Ductal carcinoma in situ, solid type (C50._)
Dysembryoplastic neuroepithelial tumor (C71._)
Dysgerminoma
Dysplasia, NOS
Dysplasia, mild
Dysplasia, moderate
Dysplasia, severe
Dysplastic nevus (C44._)
Eccrine adenocarcinoma (C44._)
Embryo fibroblasts
Embryonal carcinoma, NOS
Embryonal rhabdomyosarcoma, NOS
Embryonal sarcoma
Endometrioid adenocarcinoma, NOS
Endometriosis, NOS
Ependymoma, NOS (C71._)
Ependymoma, anaplastic (C71._)
Epithelial tumor, benign
Epithelioid leiomyoma
Esophagitis
Essential thrombocythemia
Ewing sarcoma
Fibrillary astrocytoma (C71._)
Fibroadenoma, NOS (C50._)
Fibroma, NOS
Fibrosarcoma, NOS
Fibrosis, NOS
Follicular adenocarcinoma, NOS (C73.9)
Follicular adenocarcinoma, well differentiated (C73.9)
Follicular adenoma (C73.9)
Follicular lymphoma, NOS
Follicular lymphoma, grade 1
Follicular lymphoma, grade 2
Follicular lymphoma, grade 3
Ganglioneuroblastoma
Ganglioneuroma
Gastrointestinal stromal sarcoma
Gastrointestinal stromal tumor, NOS
Gemistocytic astrocytoma (C71._)
Germ cell tumor, nonseminomatous (C62._)
Germinoma
Giant cell and spindle cell carcinoma
Giant cell carcinoma
Giant cell glioblastoma (C71._)
Giant cell tumor of bone, NOS (C40._, C41._)
Giant cell tumor of soft parts, NOS
Glandular intraepithelial neoplasia, grade III
Glassy cell carcinoma
Glioblastoma, NOS (C71._)
Glioma, malignant (C71._)
Gliomatosis cerebri (C71._)
Gliosarcoma (C71._)
Glomus tumor, NOS
Glucagonoma, malignant (C25._)
Goblet cell carcinoid
Granulosa cell tumor, juvenile (C56.9)
Granulosa cell tumor, malignant (C56.9)
Hairy cell leukemia (C42.1)
Hemangioendothelioma, NOS
Hemangioma, NOS
Hemangiopericytoma, NOS
Hemangiosarcoma
Hepatoblastoma (C22.0)
Hepatocellular adenoma (C22.0)
Hepatocellular carcinoma, NOS (C22.0)
Hepatocellular carcinoma, fibrolamellar (C22.0)
Hepatoid adecarcinoma
Hibernoma
Hidrocystoma (C44._)
Histiocytoma, NOS
Hodgkin lymphoma, NOS
Hodgkin lymphoma, lymphocyte-rich
Hodgkin lymphoma, lymphocytic depletion, NOS
Hodgkin lymphoma, mixed cellularity, NOS
Hodgkin lymphoma, nodular sclerosis, NOS
Hodgkin lymphoma, nodular sclerosis, grade 1
Hydatidiform mole, NOS (C58.9)
Hypereosinophilic syndrome
Hyperplasia, NOS
Hyperplasia, glandular
Infiltrating basal cell carcinoma, NOS (C44._)
Infiltrating duct and lobular carcinoma (C50._)
Infiltrating duct carcinoma, NOS (C50._)
Infiltrating ductular carcinoma (C50._)
Inflammatory carcinoma (C50._)
Insulinoma, malignant (C25._)
Intraductal carcinoma and lobular carcinoma in situ (C50._)
Intraductal carcinoma, noninfiltrating, NOS
Intraductal papillary adenocarcinoma with invasion (C50._)
Intraductal papillary-mucinous adenoma (C25._)
Intraductal papillary-mucinous carcinoma, non invasive (C25._)
Kaposi sarcoma
Keloid
Keratoacanthoma, NOS
Keratosis, NOS
Keratosis, actinic
Klatskin tumor (C22.1, C24.0)
Langerhans cell histiocytosis, NOS
Large cell carcinoma, NOS
Large cell neuroendocrine carcinoma
Leiomyoma, NOS
Leiomyosarcoma, NOS
Lentigo maligna melanoma (C44._)
Leucoplakia, NOS
Leukemia, NOS
Leydig cell tumor, malignant (C62._)
Lipoblastomatosis
Lipoma, NOS
Liposarcoma, NOS
Lobular carcinoma, NOS (C50._)
Lymphoid leukemia, NOS
Lymphomatoid papulosis (C44._)
Malignant fibrous histiocytoma
Malignant histiocytosis
Malignant lymphoma, NOS
Malignant lymphoma, large B-cell, diffuse, NOS
Malignant lymphoma, large B-cell, diffuse, immunoblastic, NOS
Malignant lymphoma, mixed small and large cell, diffuse
Malignant lymphoma, non-Hodgkin, NOS
Malignant lymphoma, small B lymphocytic, NOS
Malignant melanoma, NOS
Malignant myoepithelioma
Malignant peripheral nerve sheath tumor
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
Malignant rhabdoid tumor
Malignant teratoma, intermediate
Mantle cell lymphoma
Marginal zone B-cell lymphoma, NOS
Mature T-cell lymphoma, NOS
Medullary carcinoma, NOS
Medulloblastoma, NOS (C71.6)
Medulloepithelioma, NOS
Melanoma in situ
Meningeal sarcomatosis
Meningioma, NOS
Meningioma, malignant
Merkel cell carcinoma (C44._)
Mesodermal mixed tumor
Mesothelioma, malignant
Metaplasia
Metaplastic carcinoma, NOS
Mixed cell adenocarcinoma
Mixed glioma (C71._)
Mixed liposarcoma
Mixed tumor, malignant, NOS
Mucinous adenocarcinoma
Mucinous cystadenocarcinoma, NOS (C56.9)
Mucinous cystadenocarcinoma, non-invasive (C25._)
Mucinous cystic tumor of borderline malignancy (C56.9)
Mucoepidermoid carcinoma
Mullerian mixed tumor (C54._)
Multifocal superficial basal cell carcinoma (C44._)
Multiple myeloma (C42.1)
Mycosis fungoides (C44._)
Myelodysplastic syndrome with 5q deletion
Myelodysplastic syndrome, NOS
Myeloid leukemia, NOS
Myeloproliferative disease, NOS
Myelosclerosis with myeloid metaplasia
Myoepithelioma
Myofibroblastic tumor, NOS
Myofibroblastoma
Myoma
Myxoid liposarcoma
Myxopapillary ependymoma (C71._)
Myxosarcoma
NK/T-cell lymphoma, nasal and nasal-type
Neoplasm, NOS
Neoplasm, benign
Nephroblastoma, NOS (C64.9)
Neurilemoma, NOS
Neurilemoma, malignant
Neuroblastoma, NOS
Neuroendocrine carcinoma, NOS
Neuroepithelioma, NOS
Neurofibroma, NOS
Nodular melanoma (C44._)
Non-small cell carcinoma (C34._)
Normal tissue
Oat cell carcinoma (C34._)
Oligodendroglioma, NOS (C71._)
Oligodendroglioma, anaplastic (C71._)
Osteochondroma (C40._, C41._)
Osteosarcoma, NOS (C40._, C41._)
Oxyphilic adenocarcinoma
Paget's disease and intraductal carcinoma of breast (C50._)
Paget's disease, mammary (C50._)
Papillary adenocarcinoma, NOS
Papillary carcinoma in situ
Papillary carcinoma, NOS
Papillary carcinoma, follicular variant (C73.9)
Papillary cystadenocarcinoma, NOS (C56.9)
Papillary serous cystadenocarcinoma (C56.9)
Papillary transitional cell carcinoma (C67._)
Papillary transitional cell carcinoma, non invasive (C67._)
Papillary transitional cell neoplasm of low malignant potential (C67._)
Papilloma, NOS (except Papilloma of bladder M-8120/1)
Parosteal osteosarcoma (C40._, C41._)
Periosteal osteosarcoma (C40._, C41._)
Peripheral neuroectodermal tumor
Pheochromocytoma, NOS (C74.1)
Pheochromocytoma, malignant (C74.1)
Phyllodes tumor, benign (C50._)
Phyllodes tumor, malignant (C50._)
Pigmented nevus, NOS (C44._)
Pilocytic astrocytoma (C71._)
Pituitary adenoma, NOS (C75.1)
Pituitary carcinoma, NOS (C75.1)
Plasma cell leukemia (C42.1)
Plasmacytoid carcinoma
Plasmacytoma, NOS
Pleomorphic adenoma
Pleomorphic carcinoma
Pleomorphic liposarcoma
Pleomorphic rhabdomyosarcoma, adult type
Pleomorphic xanthoastrocytoma (C71._)
Pleuropulmonary blastoma
Plexiform fibrohistiocytic tumor
Polycythemia vera
Polyp, NOS
Precursor B-cell lymphoblastic leukemia
Precursor T-cell lymphoblastic leukemia
Precursor T-cell lymphoblastic lymphoma
Precursor cell lymphoblastic leukemia, NOS
Precursor cell lymphoblastic lymphoma, NOS
Primary effusion lymphoma
Primitive neuroectodermal tumor, NOS (C71._)
Prolymphocytic leukemia, NOS
Pseudosarcomatous carcinoma
Pterygium
Pulmonary blastoma (C34._)
Pulmonary sclerosing hemangioma
Refractory anemia with excess blasts
Refractory anemia with excess blasts in transformation
Renal cell carcinoma, NOS (C64.9)
Renal cell carcinoma, chromophobe type (C64.9)
Renal cell carcinoma, sarcomatoid (C64.9)
Retinoblastoma, NOS (C69.2)
Rhabdomyosarcoma, NOS
Sarcoma, NOS
Scirrhous adenocarcinoma
Sebaceous adenocarcinoma (C44._)
Secretory carcinoma of breast (C50._)
Seminoma, NOS (C62._)
Serous adenocarcinofibroma
Serous cystadenocarcinoma, NOS (C56.9)
Serous cystadenoma, borderline malignancy (C56.9)
Serous surface papillary carcinoma (C56.9)
Serous surface papillary tumor of borderline malignancy (C56.9)
Serrated adenoma (C18._)
Sex cord-gonadal stromal tumor, NOS
Sezary syndrome
Signet ring cell carcinoma
Small cell carcinoma, NOS
Small cell carcinoma, fusiform cell
Small cell carcinoma, intermediate cell
Solid carcinoma, NOS
Solitary fibrous tumor, malignant
Spindle cell carcinoma, NOS
Spindle cell sarcoma
Splenic marginal zone-B-cell lymphoma (C42.2)
Squamous cell carcinoma in situ with questionable stromal invasion
Squamous cell carcinoma in situ, NOS
Squamous cell carcinoma, NOS
Squamous cell carcinoma, adenoïd
Squamous cell carcinoma, keratinizing, NOS
Squamous cell carcinoma, large cell, nonkeratinizing, NOS
Squamous cell carcinoma, metastatic, NOS
Squamous cell carcinoma, spindle cell
Squamous intraepithelial neoplasia, grade III
Stromal sarcoma, NOS
Superficial spreading melanoma (C44._)
Sweat gland adenocarcinoma (C44._)
Synovial sarcoma, NOS
Synovial sarcoma, biphasic
T-cell large granular lymphocytic leukemia
Teratocarcinoma
Teratoma with malignant transformation
Teratoma, NOS
Teratoma, benign
Teratoma, malignant, NOS
Therapy-related acute myeloid leukemia, NOS
Therapy-related myelodysplastic syndrome
Thymic carcinoma, NOS (C37.9)
Thymoma, NOS (C37.9)
Thymoma, malignant (C37.9)
Transitional cell carcinoma in situ
Transitional cell carcinoma, NOS
Trichilemmocarcinoma (C44._)
Trichilemmoma (C44._)
Trichoepithelioma (C44._)
Tubular adenocarcinoma
Tubular adenoma, NOS
Tubulovillous adenoma, NOS
Tumor cells, NOS
Undifferentiated sarcoma
Urothelial papilloma, NOS
Villous adenoma, NOS
Waldenstrom macroglobulinemia (C42.0)
Yolk sac tumor
Clear All
Add All
Variant
cDNA Descriptions
c.(?_-1)_(*1_?)del
c.*267G>A
c.1-10782G>T
c.1-10788G>C
c.1-3176A>T
c.1000G>A
c.1000G>C
c.1006G>T
c.1006_1007insNNNNNN
c.1009C>T
c.1010G>A
c.1010G>C
c.1010G>T
c.1013T>G
c.1015G>A
c.1015G>C
c.1015G>T
c.1024C>T
c.1025G>C
c.1027G>T
c.1031T>C
c.1036G>T
c.1040C>A
c.1054G>A
c.1073A>T
c.1076C>T
c.1079G>C
c.107C>T
c.1093C>T
c.1096T>G
c.1101-2A>G
c.1123C>T
c.1129del
c.112C>T
c.1136G>A
c.1146del
c.1163A>C
c.142del
c.145G>C
c.145del
c.149T>C
c.150T>A
c.151del
c.154C>T
c.166G>T
c.170A>T
c.184G>T
c.189delinsNNN
c.1_1182del
c.202G>T
c.210_211insN
c.213_214insN
c.214del
c.216_217insN
c.242del
c.245C>T
c.261_270del
c.266_269del
c.267delC
c.272G>A
c.273_274insG
c.277_278del
c.286_288del
c.289G>A
c.291del
c.293C>G
c.293del
c.294_297del
c.298C>T
c.309C>A
c.309C>G
c.310C>T
c.313G>T
c.314G>T
c.318C>G
c.319T>C
c.31G>C
c.320_321insN
c.321C>A
c.322G>A
c.323_329dup
c.326T>C
c.326del
c.328_329delinsT
c.328_329insNNNNNNN
c.329G>A
c.329G>C
c.329G>T
c.329_330insNNNNNNN
c.330_331insNNNNNNN
c.332T>C
c.339_341del
c.354A>T
c.356C>G
c.358A>T
c.361T>A
c.364_365ins31
c.365_366del
c.372C>A
c.373A>C
c.374C>A
c.374C>G
c.374C>T
c.374_375+7del
c.375+1G>A
c.375+1_375+2insN
c.375+2T>C
c.375+5G>C
c.375G>A
c.375G>C
c.375G>T
c.375del
c.376-1G>A
c.376-2A>G
c.376-2_376-1insN
c.377A>G
c.378C>G
c.379T>A
c.379T>C
c.384_385delinsC
c.388C>T
c.389T>A
c.389T>C
c.390_426del
c.392A>G
c.392A>T
c.393_395del
c.394A>C
c.394A>G
c.395A>G
c.398T>C
c.398T>G
c.401T>A
c.402T>G
c.406C>T
c.406_424delinsACAA
c.412G>C
c.412G>T
c.413C>T
c.418_454del
c.420-421insAGACC
c.422G>A
c.423C>G
c.427G>A
c.428T>C
c.431A>T
c.437G>A
c.438G>A
c.439G>A
c.439_445del
c.439del
c.448_460del
c.450del
c.451C>A
c.451C>G
c.451C>T
c.453_454insN
c.453_455del
c.454_455insC
c.454_466del
c.455C>T
c.455del
c.461G>T
c.464C>A
c.466C>T
c.467G>A
c.467G>C
c.469G>A
c.469G>T
c.470T>A
c.472C>G
c.472C>T
c.473G>A
c.473G>C
c.473G>T
c.475_482del
c.476C>A
c.481G>A
c.481_482insNNNNNNN
c.484A>T
c.485T>A
c.486del
c.488A>G
c.489C>G
c.491_494del
c.493C>T
c.499C>A
c.499C>T
c.503A>G
c.503A>T
c.509C>T
c.509_512del
c.514G>A
c.514G>T
c.517G>A
c.518T>C
c.520A>G
c.522_523insN
c.523C>G
c.523C>T
c.524G>A
c.524G>T
c.526T>G
c.527G>A
c.528C>A
c.52del
c.530C>G
c.532C>G
c.532del
c.534C>G
c.535C>T
c.536A>G
c.537T>A
c.537T>G
c.538G>A
c.541C>A
c.541C>T
c.542G>A
c.542G>C
c.542G>T
c.548C>A
c.550del
c.554G>A
c.555C>T
c.559+1G>A
c.559+1G>T
c.559+2T>A
c.559+2T>G
c.559+5G>A
c.559G>C
c.560-11_560-1del
c.560-15_560-5del
c.560-1G>A
c.560-1G>C
c.560-2A>C
c.563T>C
c.566C>A
c.566C>T
c.569C>G
c.569C>T
c.571_572del
c.577C>G
c.577C>T
c.578A>C
c.578A>G
c.580C>T
c.584T>A
c.584T>C
c.586C>T
c.587G>A
c.587G>C
c.589G>A
c.590T>A
c.592G>T
c.596G>T
c.604C>T
c.613T>G
c.613del
c.614A>G
c.618_624del
c.620A>G
c.625A>T
c.625_626del
c.626_627del
c.628A>T
c.631_632del
c.632_641del
c.634del
c.637C>T
c.638G>A
c.638G>C
c.638G>T
c.63C>T
c.641A>G
c.642_643insNNNNNN
c.643A>G
c.643_660del
c.643del
c.645del
c.646G>A
c.652G>A
c.655C>T
c.659A>C
c.659A>G
c.662del
c.665C>T
c.666G>A
c.672+1G>A
c.672+1G>T
c.672+2T>C
c.672+2T>G
c.672+389_994-765del
c.672+65_672+66insNN
c.672G>T
c.673-1G>A
c.673-2A>G
c.673-39G>A
c.679T>A
c.681_682insT
c.685T>C
c.685_686insN
c.686_687del
c.695T>C
c.697C>G
c.700T>C
c.701A>G
c.703A>G
c.704A>G
c.706_708del
c.707A>G
c.708C>A
c.709A>G
c.710T>A
c.711G>A
c.712T>A
c.712T>G
c.713G>A
c.713G>C
c.716del
c.717C>G
c.717_718del
c.718A>G
c.721T>A
c.721del
c.722C>A
c.722C>T
c.723del
c.724T>C
c.725G>A
c.725G>T
c.728T>C
c.72del
c.730G>A
c.730del
c.731G>A
c.731G>T
c.733G>A
c.733G>T
c.734G>A
c.734G>T
c.736A>C
c.736A>G
c.736A>T
c.737T>C
c.74+2_96+29del
c.74+78G>T
c.742C>T
c.743G>A
c.743G>T
c.746G>A
c.746G>C
c.748del
c.749C>T
c.75-10_81del
c.75-18_78dup
c.75-32C>A
c.751A>C
c.752T>C
c.753C>G
c.753C>T
c.760A>G
c.761T>A
c.761T>C
c.763_765del
c.764_766del
c.766A>C
c.767C>T
c.770T>A
c.770del
c.772G>A
c.773A>C
c.782+143_835delinsGCC
c.782+1G>A
c.783-1G>A
c.783-2A>G
c.784G>A
c.78del
c.790_792del
c.790del
c.794T>C
c.797G>A
c.799C>T
c.800G>A
c.801_802insG
c.808T>C
c.80C>T
c.80del
c.812A>T
c.814G>A
c.814G>T
c.815T>C
c.817C>A
c.817C>G
c.817C>T
c.818G>A
c.818G>T
c.818_827del
c.820_821insNNN
c.820del
c.823T>C
c.824G>A
c.824G>T
c.825T>A
c.825_832delinsNNNNN
c.826_840del
c.827C>A
c.830G>A
c.832C>G
c.832C>T
c.833C>T
c.835G>A
c.839G>A
c.839G>C
c.840A>C
c.841G>A
c.841G>T
c.842A>G
c.842A>T
c.843C>A
c.844C>G
c.844C>T
c.844_845insC
c.844_851del
c.845G>A
c.845G>C
c.846del
c.847C>T
c.848G>A
c.848G>C
c.848_849insGGCG
c.850A>T
c.853G>A
c.853G>C
c.854A>T
c.856G>A
c.857A>C
c.859G>A
c.859G>T
c.868C>T
c.869G>A
c.869G>T
c.872A>G
c.875A>T
c.877G>T
c.879_880insN
c.880G>T
c.892G>A
c.892G>T
c.892delinsTTT
c.898_899insNNNN
c.902_903insC
c.904G>A
c.906del
c.910A>G
c.913_916del
c.914A>T
c.916C>T
c.916_917insNNNN
c.917G>A
c.917G>C
c.919+1G>A
c.919+1G>T
c.919del
c.91G>A
c.920-1G>T
c.920-5C>T
c.925C>T
c.927_936del
c.929_930insN
c.936del
c.951G>C
c.951del
c.96+31_97-32del
c.961A>G
c.966A>G
c.97-11C>G
c.97-1G>A
c.97-28T>A
c.970G>C
c.974G>T
c.991C>T
c.993+1G>A
c.993+1del
c.993+307C>G
c.993+309C>T
c.993+851_1100+280del
c.993G>A
c.994-1G>A
c.994-1G>C
c.994-1G>T
c.994A>T
c.994_1139del
c.996C>G
c.997C>G
c.997C>T
c.997_998insN
c.?
c.?(322GGTTTCCGTCTG>ATTCAG)
c.?(451C>G)
c.?(652del)
c.?(del exon1)
c.?(del exon1-10)
c.?(del exon1-9)
c.?(del exon10-11)
c.?(del exon2-10)
c.?(del exon2-4)
c.?(del exon2-9)
c.?(del exon5)
c.?(del exon5-9)
c.?(del prom_ex1)
c.?(del)
c.?(del45kb)
c.?(dup exon4)
c.?(exon8del)
c.?(large del)
i.e.: c.524G>A or 524G>A
Reference Sequence: NM_000546.5
Clear All
Protein Descriptions
>
p.?
p.A119G
p.A138P
p.A138S
p.A138V
p.A159D
p.A161T
p.A189D
p.A189V
p.A276D
p.A307fs
p.A347D
p.C124*
p.C141W
p.C141Y
p.C176*
p.C176G
p.C176Y
p.C229R
p.C229fs
p.C238G
p.C238S
p.C238Y
p.C242F
p.C242R
p.C242Y
p.C275*
p.C275F
p.C275R
p.C275Y
p.C277Y
p.D184fs
p.D207G
p.D21D
p.D281E
p.D281G
p.D281N
p.D281V
p.D281Y
p.D324H
p.D352N
p.D48fs
p.D49H
p.D49fs
p.D57V
p.E11Q
p.E180K
p.E198*
p.E221fs
p.E224D
p.E258A
p.E258K
p.E271V
p.E285K
p.E285Q
p.E285V
p.E286A
p.E286K
p.E287*
p.E287K
p.E294*
p.E294fs
p.E298*
p.E298K
p.E336*
p.E339*
p.E339K
p.E339Q
p.E343*
p.E346*
p.E358V
p.E388A
p.E51fs
p.E56*
p.E62*
p.E68*
p.F109S
p.F134L
p.F134Y
p.F212fs
p.F270L
p.F338C
p.G105C
p.G105V
p.G108S
p.G108_L111delinsIQ
p.G154V
p.G187R
p.G199V
p.G244D
p.G244S
p.G244V
p.G244fs
p.G245C
p.G245D
p.G245S
p.G245V
p.G262S
p.G266E
p.G279R
p.G293W
p.G302R
p.G302fs
p.G325V
p.G334R
p.G360A
p.H168L
p.H168R
p.H178D
p.H178Q
p.H178fs
p.H179Q
p.H179R
p.H179Y
p.H193D
p.H193P
p.H193R
p.H193Y
p.H214R
p.H233D
p.H365Y
p.I162F
p.I162N
p.I162fs
p.I195N
p.I195T
p.I232T
p.I251I
p.I251L
p.I251M
p.I251T
p.I254N
p.I254T
p.I254V
p.I255del
p.I332F
p.I332M
p.I50I
p.I50T
p.K120*
p.K132E
p.K132Q
p.K132R
p.K164fs
p.K24fs
p.K291R
p.K292I
p.K305M
p.K321E
p.K382fs
p.L111P
p.L130F
p.L130H
p.L130P
p.L188P
p.L194F
p.L257Q
p.L257fs
p.L264del
p.L264fs
p.L265P
p.L26fs
p.L344P
p.M133R
p.M133T
p.M237I
p.M237K
p.M237V
p.M243T
p.M246L
p.M246T
p.M246V
p.N131I
p.N131S
p.N131del
p.N210Y
p.N235D
p.N235S
p.N239K
p.N239fs
p.N310fs
p.P151A
p.P151S
p.P151T
p.P151fs
p.P152L
p.P152fs
p.P177R
p.P190L
p.P190R
p.P191fs
p.P219S
p.P222L
p.P222P
p.P250L
p.P250fs
p.P278A
p.P278L
p.P278S
p.P27L
p.P27fs
p.P300fs
p.P309S
p.P322P
p.P359L
p.P36L
p.P71fs
p.P82L
p.P89fs
p.P98R
p.P98fs
p.Q100*
p.Q104*
p.Q136*
p.Q144L
p.Q165*
p.Q167*
p.Q167K
p.Q317H
p.Q317fs
p.Q331*
p.Q331Q
p.Q375*
p.Q38*
p.Q52*
p.R110H
p.R110L
p.R110P
p.R156C
p.R156H
p.R156P
p.R158C
p.R158G
p.R158H
p.R158L
p.R158P
p.R174G
p.R174fs
p.R175C
p.R175G
p.R175H
p.R175L
p.R181C
p.R181H
p.R181L
p.R181P
p.R181S
p.R196*
p.R196P
p.R196Q
p.R202C
p.R209*
p.R209fs
p.R213*
p.R213L
p.R213P
p.R213Q
p.R248L
p.R248Q
p.R248W
p.R249K
p.R249T
p.R267Q
p.R267W
p.R273C
p.R273G
p.R273H
p.R273L
p.R273S
p.R280K
p.R280S
p.R280T
p.R282G
p.R282P
p.R282Q
p.R282W
p.R283C
p.R283H
p.R283P
p.R283fs
p.R290C
p.R290H
p.R290L
p.R306*
p.R306P
p.R306Q
p.R306fs
p.R333C
p.R333G
p.R333fs
p.R337C
p.R337H
p.R337L
p.R337P
p.R342*
p.R342P
p.R379H
p.S106R
p.S121T
p.S127P
p.S127T
p.S183*
p.S185N
p.S185S
p.S215G
p.S215fs
p.S227T
p.S240G
p.S241F
p.S241T
p.S241Y
p.S241fs
p.S366A
p.S96del
p.T118T
p.T125K
p.T125M
p.T125P
p.T125R
p.T125T
p.T125fs
p.T150fs
p.T155N
p.T170M
p.T170fs
p.T18fs
p.T211fs
p.T256I
p.T256P
p.T284S
p.T304A
p.T312fs
p.T377fs
p.V122fs
p.V143A
p.V143M
p.V147I
p.V147fs
p.V157D
p.V157F
p.V157I
p.V172F
p.V172I
p.V173A
p.V173M
p.V197E
p.V197M
p.V216M
p.V218M
p.V225_Q331del
p.V272A
p.V272L
p.V272M
p.V274fs
p.V31I
p.V73fs
p.V97I
p.W146*
p.W91*
p.Y103*
p.Y107*
p.Y107H
p.Y107fs
p.Y126*
p.Y126C
p.Y126_K132del
p.Y163*
p.Y163C
p.Y205C
p.Y205D
p.Y205fs
p.Y220C
p.Y220S
p.Y234C
p.Y234H
p.Y236*
p.Y236C
p.Y236del
i.e.: p.R175H or R175H
Reference Sequence: UniProt P04637
Clear All
Genomic Descriptions (hg19)
g.7572660C>T
g.7572927_7579912del
g.7572946T>G
g.7572963del
g.7572970_7574033
g.7572973C>T
g.7572980del
g.7572986G>A
g.7573010T>C
g.7573647_7576002del
g.7573931A>C
g.7573934G>A
g.7573948C>G
g.7573951G>A
g.7573954T>A
g.7573973C>T
g.7573987G>T
g.7573991C>A
g.7573996A>G
g.7574000C>A
g.7574002C>G
g.7574003G>A
g.7574012C>A
g.7574012C>G
g.7574012C>T
g.7574014A>C
g.7574017C>A
g.7574017C>G
g.7574017C>T
g.7574018G>A
g.7574020_7574021insNNNNNN
g.7574021C>A
g.7574027C>G
g.7574027C>T
g.7574029_7574030insN
g.7574030G>A
g.7574030G>C
g.7574031G>C
g.7574033T>A
g.7574034C>A
g.7574034C>G
g.7574034C>T
g.7574798_7577788del
g.7576544G>A
g.7576546G>C
g.7576852C>T
g.7576852del
g.7576853C>T
g.7576855G>A
g.7576872C>A
g.7576876C>G
g.7576880T>C
g.7576885T>C
g.7576895C>G
g.7576895del
g.7576910_7576919del
g.7576910del
g.7576916_7576917insN
g.7576921G>A
g.7576927C>A
g.7576931G>A
g.7577018C>A
g.7577018C>T
g.7577019del
g.7577021C>G
g.7577021C>T
g.7577021_7577022insNNNN
g.7577022G>A
g.7577022_7577025del
g.7577024T>A
g.7577028T>C
g.7577032del
g.7577034C>T
g.7577035_7577036insG
g.7577039_7577040insNNNN
g.7577046C>A
g.7577046C>T
g.7577058C>A
g.7577058_7577059insN
g.7577061C>A
g.7577063T>A
g.7577066T>C
g.7577069C>A
g.7577069C>T
g.7577070G>A
g.7577079C>A
g.7577079C>T
g.7577081T>G
g.7577082C>T
g.7577084T>A
g.7577085C>G
g.7577085C>T
g.7577087_7577094del
g.7577088T>A
g.7577089_7577090insCGCC
g.7577090C>G
g.7577090C>T
g.7577091G>A
g.7577092del
g.7577093C>G
g.7577093C>T
g.7577093_7577094insG
g.7577094G>A
g.7577094G>C
g.7577095G>T
g.7577096T>A
g.7577096T>C
g.7577097C>A
g.7577097C>T
g.7577098T>G
g.7577098_7577112del
g.7577099C>G
g.7577099C>T
g.7577103C>T
g.7577103_7577356delinsGGC
g.7577105G>A
g.7577106G>A
g.7577106G>C
g.7577106_7577113delinsNNNNN
g.7577108C>T
g.7577111G>T
g.7577111_7577120del
g.7577113A>T
g.7577114C>A
g.7577114C>T
g.7577115A>G
g.7577117_7577118insNNN
g.7577118del
g.7577120C>A
g.7577120C>T
g.7577121G>A
g.7577121G>C
g.7577121G>T
g.7577123A>G
g.7577124C>A
g.7577124C>T
g.7577126T>A
g.7577130A>G
g.7577136_7577137insC
g.7577138C>T
g.7577139G>A
g.7577141C>T
g.7577144A>G
g.7577146_7577148del
g.7577148del
g.7577154C>T
g.7577156C>T
g.7577157T>C
g.7577498C>T
g.7577508T>G
g.7577509C>T
g.7577511A>T
g.7577511del
g.7577514G>A
g.7577515T>G
g.7577515_7577517del
g.7577516_7577518del
g.7577520A>G
g.7577520A>T
g.7577521T>C
g.7577528G>A
g.7577528G>C
g.7577529A>G
g.7577530T>G
g.7577532G>A
g.7577533del
g.7577535C>G
g.7577535C>T
g.7577538C>A
g.7577538C>T
g.7577539G>A
g.7577544A>G
g.7577545T>A
g.7577545T>C
g.7577545T>G
g.7577547C>A
g.7577547C>T
g.7577548C>A
g.7577548C>T
g.7577550C>A
g.7577550C>T
g.7577551C>T
g.7577551del
g.7577553A>G
g.7577556C>A
g.7577556C>T
g.7577557A>G
g.7577558del
g.7577559G>A
g.7577559G>T
g.7577560A>T
g.7577560del
g.7577563T>C
g.7577563_7577564del
g.7577564G>C
g.7577565del
g.7577568C>G
g.7577568C>T
g.7577569A>C
g.7577569A>T
g.7577570C>T
g.7577571A>T
g.7577572T>C
g.7577573G>T
g.7577573_7577575del
g.7577574T>C
g.7577577T>C
g.7577578T>C
g.7577580T>C
g.7577581A>G
g.7577584G>C
g.7577586A>G
g.7577594_7577595del
g.7577595_7577596insN
g.7577596A>G
g.7577599_7577600insA
g.7577602A>T
g.7577609C>T
g.7577610T>C
g.7577647C>T
g.7578111_7578112insNN
g.7578175A>C
g.7578175A>G
g.7578176C>A
g.7578176C>T
g.7578177C>A
g.7578183C>T
g.7578184G>A
g.7578187del
g.7578189_7578206del
g.7578190T>C
g.7578190T>G
g.7578194G>A
g.7578197C>T
g.7578203C>T
g.7578204del
g.7578206T>C
g.7578206_7578207insNNNNNN
g.7578206del
g.7578208T>C
g.7578208_7578217del
g.7578211C>A
g.7578211C>G
g.7578211C>T
g.7578212G>A
g.7578215del
g.7578217_7578218del
g.7578221T>A
g.7578222_7578223del
g.7578223_7578224del
g.7578224T>A
g.7578225_7578231del
g.7578229T>C
g.7578235T>C
g.7578236A>C
g.7578236del
g.7578245G>A
g.7578253C>A
g.7578257C>A
g.7578259A>T
g.7578260C>T
g.7578262C>G
g.7578262C>T
g.7578263G>A
g.7578265A>G
g.7578265A>T
g.7578269G>A
g.7578271T>C
g.7578271T>G
g.7578272G>A
g.7578272G>C
g.7578277_7578278del
g.7578280G>A
g.7578280G>C
g.7578283G>A
g.7578283G>T
g.7578286A>G
g.7578290C>G
g.7578290C>T
g.7578290_7578300del
g.7578291T>G
g.7578294_7578304del
g.7578366C>T
g.7578369A>C
g.7578369A>T
g.7578370C>A
g.7578370C>T
g.7578371C>G
g.7578375G>A
g.7578376C>T
g.7578380del
g.7578382G>T
g.7578388C>A
g.7578388C>G
g.7578388C>T
g.7578389G>A
g.7578389G>T
g.7578392C>T
g.7578393A>C
g.7578393A>T
g.7578394T>C
g.7578395G>A
g.7578396G>C
g.7578398G>C
g.7578398del
g.7578400G>C
g.7578402G>T
g.7578403C>T
g.7578404A>C
g.7578406C>A
g.7578406C>T
g.7578407G>A
g.7578407G>C
g.7578407_7578408insN
g.7578410T>C
g.7578412A>G
g.7578413C>T
g.7578416C>A
g.7578416C>T
g.7578418_7578421del
g.7578421G>A
g.7578427T>A
g.7578427T>C
g.7578431G>A
g.7578431G>T
g.7578436_7578439del
g.7578437G>A
g.7578441G>C
g.7578442T>C
g.7578444del
g.7578445A>T
g.7578446T>A
g.7578448_7578449insNNNNNNN
g.7578448_7578455del
g.7578449C>T
g.7578454G>T
g.7578457C>A
g.7578457C>G
g.7578457C>T
g.7578458G>A
g.7578458G>C
g.7578460A>T
g.7578461C>A
g.7578461C>T
g.7578463C>G
g.7578463C>T
g.7578464G>A
g.7578464_7578476del
g.7578466G>T
g.7578469C>A
g.7578470_7578482del
g.7578475G>A
g.7578475_7578476insG
g.7578475_7578477del
g.7578475del
g.7578476_7578477insN
g.7578476_7578512del
g.7578479G>A
g.7578479G>C
g.7578479G>T
g.7578480del
g.7578485_7578491del
g.7578491C>T
g.7578491del
g.7578492C>T
g.7578493C>T
g.7578499T>A
g.7578502A>G
g.7578503C>T
g.7578504_7578540del
g.7578507G>C
g.7578508C>T
g.7578509_7578510insGGTCT
g.7578517G>A
g.7578518C>A
g.7578518C>G
g.7578524G>A
g.7578528A>C
g.7578529A>T
g.7578532A>C
g.7578532A>G
g.7578535T>C
g.7578535_7578537del
g.7578536T>C
g.7578536T>G
g.7578538T>A
g.7578538T>C
g.7578541A>G
g.7578541A>T
g.7578542G>A
g.7578545_7578546delinsG
g.7578551A>G
g.7578551A>T
g.7578552G>C
g.7578553T>C
g.7578555C>T
g.7578555_7578556insN
g.7578556T>C
g.7579305_7579313del
g.7579307C>G
g.7579310A>G
g.7579310_7579311insN
g.7579311C>T
g.7579312C>A
g.7579312C>G
g.7579312C>T
g.7579312del
g.7579313G>A
g.7579313G>C
g.7579313G>T
g.7579314T>G
g.7579315G>T
g.7579321_7579322del
g.7579322_7579323ins31
g.7579326A>T
g.7579329T>A
g.7579331G>C
g.7579333T>A
g.7579346_7579348del
g.7579355A>G
g.7579356_7579357insNNNNNNN
g.7579357_7579358insNNNNNNN
g.7579358C>A
g.7579358C>G
g.7579358C>T
g.7579358_7579359insNNNNNNN
g.7579361A>G
g.7579361del
g.7579365C>T
g.7579366G>T
g.7579366_7579367insN
g.7579368A>G
g.7579369G>C
g.7579373C>A
g.7579374C>A
g.7579377G>A
g.7579378G>C
g.7579378G>T
g.7579389G>A
g.7579390_7579393del
g.7579394G>C
g.7579394del
g.7579396del
g.7579398C>T
g.7579399_7579401del
g.7579409_7579410del
g.7579413_7579414insC
g.7579415C>T
g.7579417_7579426del
g.7579418_7579421del
g.7579442G>A
g.7579445del
g.7579470_7579471insN
g.7579473_7579474insN
g.7579473del
g.7579476_7579477insN
g.7579485C>A
g.7579498delinsNNN
g.7579503C>A
g.7579517T>A
g.7579521C>A
g.7579533G>A
g.7579536del
g.7579537A>T
g.7579538A>G
g.7579542C>G
g.7579542del
g.7579545del
g.7579575G>A
g.7579580G>A
g.7579591C>T
g.7579601G>C
g.7579618A>T
g.7579622_7579669del
g.7579671_7579837del
g.7579705C>T
g.7579715_7579731del
g.7579716G>A
g.7579716del
g.7579718del
g.7579753G>T
g.7579761C>A
g.7579841del
g.7579850G>A
g.7579861del
g.7579882C>G
g.7583088T>A
g.7590694C>A
g.7590700C>G
g.?
g.?(del prom_ex1)
g.?(del)
g.?(del45kb)
g.?(large del)
i.e.: g.7578406C>T or 7578406C>T
Reference Sequence: GenBank NC_000017.10
Clear All
Genomic Descriptions (hg38)
g.7669342C>T
g.7669609_7676594del
g.7669628T>G
g.7669645del
g.7669652_7670715del
g.7669655C>T
g.7669662del
g.7669668G>A
g.7669692T>C
g.7670329_7672684del
g.7670613A>C
g.7670616G>A
g.7670630C>G
g.7670633G>A
g.7670636T>A
g.7670655C>T
g.7670669G>T
g.7670673C>A
g.7670678A>G
g.7670682C>A
g.7670684C>G
g.7670685G>A
g.7670694C>A
g.7670694C>G
g.7670694C>T
g.7670696A>C
g.7670699C>A
g.7670699C>G
g.7670699C>T
g.7670700G>A
g.7670702_7670703insNNNNNN
g.7670703C>A
g.7670709C>G
g.7670709C>T
g.7670711_7670712insN
g.7670712G>A
g.7670712G>C
g.7670713G>C
g.7670715T>A
g.7670716C>A
g.7670716C>G
g.7670716C>T
g.7671480_7674470del
g.7673226G>A
g.7673228G>C
g.7673534C>T
g.7673534del
g.7673535C>T
g.7673537G>A
g.7673554C>A
g.7673558C>G
g.7673562T>C
g.7673567T>C
g.7673577C>G
g.7673577del
g.7673592_7673601del
g.7673592del
g.7673598_7673599insN
g.7673603G>A
g.7673609C>A
g.7673613G>A
g.7673700C>A
g.7673700C>T
g.7673701del
g.7673703C>G
g.7673703C>T
g.7673703_7673704insNNNN
g.7673704G>A
g.7673704_7673707del
g.7673706T>A
g.7673710T>C
g.7673714del
g.7673716C>T
g.7673717_7673718insG
g.7673721_7673722insNNNN
g.7673728C>A
g.7673728C>T
g.7673740C>A
g.7673740_7673741insN
g.7673743C>A
g.7673745T>A
g.7673748T>C
g.7673751C>A
g.7673751C>T
g.7673752G>A
g.7673761C>A
g.7673761C>T
g.7673763T>G
g.7673764C>T
g.7673766T>A
g.7673767C>G
g.7673767C>T
g.7673769_7673776del
g.7673770T>A
g.7673771_7673772insCGCC
g.7673772C>G
g.7673772C>T
g.7673773G>A
g.7673774del
g.7673775C>G
g.7673775C>T
g.7673775_7673776insG
g.7673776G>A
g.7673776G>C
g.7673777G>T
g.7673778T>A
g.7673778T>C
g.7673779C>A
g.7673779C>T
g.7673780T>G
g.7673780_7673794del
g.7673781C>G
g.7673781C>T
g.7673785C>T
g.7673785_7674038delinsGGC
g.7673787G>A
g.7673788G>A
g.7673788G>C
g.7673788_7673795delinsNNNNN
g.7673790C>T
g.7673793G>T
g.7673793_7673802del
g.7673795A>T
g.7673796C>A
g.7673796C>T
g.7673797A>G
g.7673799_7673800insNNN
g.7673800del
g.7673802C>A
g.7673802C>T
g.7673803G>A
g.7673803G>C
g.7673803G>T
g.7673805A>G
g.7673806C>A
g.7673806C>T
g.7673808T>A
g.7673812A>G
g.7673818_7673819insC
g.7673820C>T
g.7673821G>A
g.7673823C>T
g.7673826A>G
g.7673828_7673830del
g.7673830del
g.7673836C>T
g.7673838C>T
g.7673839T>C
g.7674180C>T
g.7674190T>G
g.7674191C>T
g.7674193A>T
g.7674193del
g.7674196G>A
g.7674197T>G
g.7674197_7674199del
g.7674198_7674200del
g.7674202A>G
g.7674202A>T
g.7674203T>C
g.7674210G>A
g.7674210G>C
g.7674211A>G
g.7674212T>G
g.7674214G>A
g.7674215del
g.7674217C>G
g.7674217C>T
g.7674220C>A
g.7674220C>T
g.7674221G>A
g.7674226A>G
g.7674227T>A
g.7674227T>C
g.7674227T>G
g.7674229C>A
g.7674229C>T
g.7674230C>A
g.7674230C>T
g.7674232C>A
g.7674232C>T
g.7674233C>T
g.7674233del
g.7674235A>G
g.7674238C>A
g.7674238C>T
g.7674239A>G
g.7674240del
g.7674241G>A
g.7674241G>T
g.7674242A>T
g.7674242del
g.7674245T>C
g.7674245_7674246del
g.7674246G>C
g.7674247del
g.7674250C>G
g.7674250C>T
g.7674251A>C
g.7674251A>T
g.7674252C>T
g.7674253A>T
g.7674254T>C
g.7674255G>T
g.7674255_7674257del
g.7674256T>C
g.7674259T>C
g.7674260T>C
g.7674262T>C
g.7674263A>G
g.7674266G>C
g.7674268A>G
g.7674276_7674277del
g.7674277_7674278insN
g.7674278A>G
g.7674281_7674282insA
g.7674284A>T
g.7674291C>T
g.7674292T>C
g.7674329C>T
g.7674793_7674794insNN
g.7674857A>C
g.7674857A>G
g.7674858C>A
g.7674858C>T
g.7674859C>A
g.7674865C>T
g.7674866G>A
g.7674869del
g.7674871_7674888del
g.7674872T>C
g.7674872T>G
g.7674876G>A
g.7674879C>T
g.7674885C>T
g.7674886del
g.7674888T>C
g.7674888_7674889insNNNNNN
g.7674888del
g.7674890T>C
g.7674890_7674899del
g.7674893C>A
g.7674893C>G
g.7674893C>T
g.7674894G>A
g.7674897del
g.7674899_7674900del
g.7674903T>A
g.7674904_7674905del
g.7674905_7674906del
g.7674906T>A
g.7674907_7674913del
g.7674911T>C
g.7674917T>C
g.7674918A>C
g.7674918del
g.7674927G>A
g.7674935C>A
g.7674939C>A
g.7674941A>T
g.7674942C>T
g.7674944C>G
g.7674944C>T
g.7674945G>A
g.7674947A>G
g.7674947A>T
g.7674951G>A
g.7674953T>C
g.7674953T>G
g.7674954G>A
g.7674954G>C
g.7674959_7674960del
g.7674962G>A
g.7674962G>C
g.7674965G>A
g.7674965G>T
g.7674968A>G
g.7674972C>G
g.7674972C>T
g.7674972_7674982del
g.7674973T>G
g.7674976_7674986del
g.7675048C>T
g.7675051A>C
g.7675051A>T
g.7675052C>A
g.7675052C>T
g.7675053C>G
g.7675057G>A
g.7675058C>T
g.7675062del
g.7675064G>T
g.7675070C>A
g.7675070C>G
g.7675070C>T
g.7675071G>A
g.7675071G>T
g.7675074C>T
g.7675075A>C
g.7675075A>T
g.7675076T>C
g.7675077G>A
g.7675078G>C
g.7675080G>C
g.7675080del
g.7675082G>C
g.7675084G>T
g.7675085C>T
g.7675086A>C
g.7675088C>A
g.7675088C>T
g.7675089G>A
g.7675089G>C
g.7675089_7675090insN
g.7675092T>C
g.7675094A>G
g.7675095C>T
g.7675098C>A
g.7675098C>T
g.7675100_7675103del
g.7675103G>A
g.7675109T>A
g.7675109T>C
g.7675113G>A
g.7675113G>T
g.7675118_7675121del
g.7675119G>A
g.7675123G>C
g.7675124T>C
g.7675126del
g.7675127A>T
g.7675128T>A
g.7675130_7675131insNNNNNNN
g.7675130_7675137del
g.7675131C>T
g.7675136G>T
g.7675139C>A
g.7675139C>G
g.7675139C>T
g.7675140G>A
g.7675140G>C
g.7675142A>T
g.7675143C>A
g.7675143C>T
g.7675145C>G
g.7675145C>T
g.7675146G>A
g.7675146_7675158del
g.7675148G>T
g.7675151C>A
g.7675152_7675164del
g.7675157G>A
g.7675157_7675158insG
g.7675157_7675159del
g.7675157del
g.7675158_7675159insN
g.7675158_7675194del
g.7675161G>A
g.7675161G>C
g.7675161G>T
g.7675162del
g.7675167_7675173del
g.7675173C>T
g.7675173del
g.7675174C>T
g.7675175C>T
g.7675181T>A
g.7675184A>G
g.7675185C>T
g.7675186_7675222del
g.7675189G>C
g.7675190C>T
g.7675191_7675192insGGTCT
g.7675199G>A
g.7675200C>A
g.7675200C>G
g.7675206G>A
g.7675210A>C
g.7675211A>T
g.7675214A>C
g.7675214A>G
g.7675217T>C
g.7675217_7675219del
g.7675218T>C
g.7675218T>G
g.7675220T>A
g.7675220T>C
g.7675223A>G
g.7675223A>T
g.7675224G>A
g.7675227_7675228delinsG
g.7675233A>G
g.7675233A>T
g.7675234G>C
g.7675235T>C
g.7675237C>T
g.7675237_7675238insN
g.7675238T>C
g.7675987_7675995del
g.7675989C>G
g.7675992A>G
g.7675992_7675993insN
g.7675993C>T
g.7675994C>A
g.7675994C>G
g.7675994C>T
g.7675994del
g.7675995G>A
g.7675995G>C
g.7675995G>T
g.7675996T>G
g.7675997G>T
g.7676003_7676004del
g.7676004_7676005ins31
g.7676008A>T
g.7676011T>A
g.7676013G>C
g.7676015T>A
g.7676028_7676030del
g.7676037A>G
g.7676038_7676039insNNNNNNN
g.7676039_7676040insNNNNNNN
g.7676040C>A
g.7676040C>G
g.7676040C>T
g.7676040_7676041insNNNNNNN
g.7676043A>G
g.7676043del
g.7676047C>T
g.7676048G>T
g.7676048_7676049insN
g.7676050A>G
g.7676051G>C
g.7676055C>A
g.7676056C>A
g.7676059G>A
g.7676060G>C
g.7676060G>T
g.7676071G>A
g.7676072_7676075del
g.7676076G>C
g.7676076del
g.7676078del
g.7676080C>T
g.7676081_7676083del
g.7676091_7676092del
g.7676095_7676096insC
g.7676097C>T
g.7676099_7676108del
g.7676100_7676103del
g.7676124G>A
g.7676127del
g.7676152_7676153insN
g.7676155_7676156insN
g.7676155del
g.7676158_7676159insN
g.7676167C>A
g.7676180delinsNNN
g.7676185C>A
g.7676199T>A
g.7676203C>A
g.7676215G>A
g.7676218del
g.7676219A>T
g.7676220A>G
g.7676224C>G
g.7676224del
g.7676227del
g.7676257G>A
g.7676262G>A
g.7676273C>T
g.7676283G>C
g.7676300A>T
g.7676304_7676351del
g.7676353_7676519del
g.7676387C>T
g.7676397_7676413del
g.7676398G>A
g.7676398del
g.7676400del
g.7676435G>T
g.7676443C>A
g.7676523del
g.7676532G>A
g.7676543del
g.7676564C>G
g.7679770T>A
g.7687376C>A
g.7687382C>G
g.?
g.?(del prom_ex1)
g.?(del)
g.?(del45kb)
g.?(large del)
i.e.: g.7675088C>T or 7675088C>T
Reference Sequence: GenBank NC_000017.11
Clear All
Type
A:T>C:G
A:T>G:C
A:T>T:A
G:C>A:T
G:C>A:T at CpG
G:C>C:G
G:C>T:A
complex
del
ins
Clear All
Add All
Description
A>C
A>G
A>T
C>A
C>G
C>T
G>A
G>C
G>T
GGTTTCCGTCTG>ATTCAG
T>A
T>C
T>G
del exon1
del exon1-10
del exon10-11
del exon2-10
del exon2-4
del exon2-9
del exon5
del exon5-9
del exon8
del prom-ex1
del1
del10
del1064
del11
del1182
del13
del15
del167
del17
del18
del1ins3
del2
del2356
del254ins3
del2991
del2ins1
del3
del37
del4
del45kb
del48
del7
del8
del8ins5
del9
del?
dup Promoter
dup exon4
ins1
ins2
ins3
ins31
ins4
ins5
ins6
ins7
large del
rearrangement/large del
Clear All
Add All
Struct-Function Motif
C-term
C-term/NLS
C-term/tetramerisation
L1/S/H2
L2/L3
N-term
N-term/Transactivation
N-term/Transactivation/NES
NDBL/beta-sheets
SH3-like/Pro-rich
Clear All
Add All
Exon/Intron
1-exon
1-intron
2-exon
2-intron
3-exon
3-intron
4-exon
4-intron
5'UTR
5-exon
5-intron
6-exon
6-intron
7-exon
7-intron
8-exon
8-intron
9-exon
9-intron
10-exon
10-intron
11-exon
e1-exon
e2-exon
e4-exon
e5-exon
e8-exon
e10-exon
Clear All
Add All
Effect
FS
intronic
large del
missense
nonsense
other
silent
splice
Clear All
Add All
Transactivation Class
functional
non-functional
partially functional
supertrans
SIFT Class
Damaging
Tolerated
Chromosome Positioning
hg19
hg38
Mutant Base (coding)
Any
A
C
G
T
Codon Number
Enter by Range
Codon No.
Start (≤)
to
(≤) End
Wild-Type Codon
Mutant Codon
Wild-Type Amino Acid
Mutant Amino Acid
Help Resources
p53 Coding Sequence
Genetic Code
Individual and Pedigree
Confirmed or Obligate Carriers Only
Cancer-Affected Individuals Only
Age at Diagnosis
Start
to
End
Sex
Female
Male
Family History
FH
LFL
LFS
Other
TP53_Chompret
noFH
Clear All
Add All
Mode of Inheritance
M
M&P
P
de novo
de novo, mosaic
inherited, NOS
Clear All
Add All
Family Case
1st degree relative
2nd degree relative
3rd degree relative
proband
twin
other
NA
Clear All
Add All
Country/Population
Afghanistan
Africa
Albania
Algeria
American Samoa
Americas
Angola
Anguilla
Antigua And Barbuda
Argentina
Armenia
Aruba
Asia
Australia
Australia/New Zealand
Austria
Azerbaijan
Bahamas
Bahrain
Bangladesh
Barbados
Belarus
Belgium
Belize
Benin
Bhutan
Bolivia
Bosnia And Herzegovina
Botswana
Brazil
Brunei Darussalam
Bulgaria
Burkina Faso
Burundi
Cambodia
Cameroon
Canada
Cape Verde
Caribbean
Cayman Islands
Central African Republic
Central America
Chad
Channel Islands
Chile
China
China, Hong-Kong
China, Macau
Chinese Taipei (Taiwan)
Colombia
Comoros
Congo
Cook Islands
Costa Rica
Cote D'ivoire
Croatia
Cuba
Cyprus
Czech Republic
Denmark
Djibouti
Dominica
East Timor
Eastern Africa
Eastern Asia
Eastern Europe
Ecuador
Egypt
El Salvador
Equatorial Guinea
Eritrea
Estonia
Ethiopia
Europe
Faeroe Islands
Falkland Islands
Fiji
Finland
France
France, Guadeloupe
France, La Reunion
France, Martinique
French Guyana
French Polynesia
Gabon
Gambia
Georgia
Germany
Ghana
Greece
Grenada
Guam
Guatemala
Guinea
Guinea-Bissau
Guyana
Haiti
Honduras
Hungary
Iceland
India
Indonesia
Iran
Iraq
Ireland
Isle of Man
Israel
Italy
Jamaica
Japan
Jordan
Kazakhstan
Kenya
Kiribati
Korea
Kuwait
Kyrgyzstan
Lao People's Democratic Republic
Latvia
Lebanon
Lesotho
Less developed regions
Liberia
Libya
Liechtenstein
Lithuania
Luxembourg
Macedonia
Madagascar
Malawi
Malaysia
Maldives
Mali
Malta
Marshall Islands
Mauritania
Mauritius
Melanesia
Mexico
Micronesia
Middle Africa
Moldova
Monaco
Mongolia
Montserrat
More developed regions
Morocco
Mozambique
Myanmar
Namibia
Nauru
Nepal
Netherlands Antilles
New Caledonia
New Zealand
Nicaragua
Niger
Nigeria
Northern Africa
Northern America
Northern Europe
Northern Mariana Islands
Norway
Oman
Pacific Islands
Pakistan
Palestinian Occupied Territory
Panama
Papua New Guinea
Paraguay
Peru
Philippines
Pitcairn Islands
Poland
Polynesia
Portugal
Puerto Rico
Qatar
Romania
Russia
Rwanda
Saint Lucia
Saint Vincent And The Grenadines
Samoa
Saudi Arabia
Senegal
Serbia
Seychelles
Sierra Leone
Singapore
Slovakia
Slovenia
Solomon Islands
Somalia
South Africa
South America
South Central Asia
South Eastern Asia
Southern Africa
Southern Europe
Spain
Sri Lanka
St. Christopher and Nevis
St. Helena
St. Pierre And Miquelon
Sudan
Suriname
Swaziland
Sweden
Switzerland
Syrian Arab Republic
Tajikistan
Tanzania
Thailand
The Netherlands
Togo
Tokelau
Tonga
Trinidad And Tobago
Tunisia
Turkey
Turkmenistan
Turks And Caicos Islands
Tuvalu
UK
USA
Uganda
Ukraine
United Arab Emirates
United Virgin Islands
Uruguay
Uzbekistan
Vanuatu
Venezuela
Vietnam
Wallis And Futuna Islands
Western Africa
Western Asia
Western Europe
Western Pacific
Western Sahara
Yemen
Yugoslavia
Zambia
Zimbabwe
Clear All
Add All
Reference
Reference
Clear All
Browse Reference
Show
5
10
25
entries
Search:
Author
Year
Title
Journal
PubMed
Abstract
Abe T;Blackford AL;Tamura K;Ford M;McCormick P;Chuidian M;Almario JA;Borges M;Lennon AM;Shin EJ;Klein AP;Hruban RH;Canto MI;Goggins M;
2019
Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance
J Clin Oncol
30883245
Aceto GM;Awadelkarim KD;Di NM;Moscatello C;Pantalone MR;Verginelli F;Elwali NE;Mariani-Costantini R;
2019
Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors
Breast Cancer Res Treat
30796655
Achatz MI;
2011
IARC data
Unpublished
Achatz MI;Olivier M;Calvez FL;Martel-Planche G;Lopes A;Rossi BM;Ashton-Prolla P;Giugliani R;Palmero EI;Vargas FR;Rocha JC;Vettore AL;Hainaut P;
2007
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
Cancer Lett
16494995
Agarwalla PK;Dunn IF;Turner CD;Ligon KL;Schneider KA;Smith ER;
2008
A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature
Pediatr Neurosurg
19127094
Showing 1 to 5 of 454 entries
Previous
1
2
3
4
5
…
91
Next
Criteria to Exclude
Tumor
Topography
ADRENAL GLAND
ANUS
BILIARY TRACT
BLADDER
BONES (limbs)
BONES (other)
BRAIN
BREAST
CERVIX UTERI
COLON
COLORECTUM, NOS
CORPUS UTERI
DIGESTIVE ORGANS, NOS
ENDOCRINE GLANDS, NOS
ESOPHAGUS
EYE AND ADNEXA
FEMALE GENITAL ORG., NOS
GALLBLADDER
GUM
HEAD&NECK, NOS
HEART/MED/PLEURA
HEMATOP. SYSTEM
HYPOPHARYNX
KIDNEY
LARYNX
LIP
LIVER
LUNG
LYMPH NODES
MENINGES
MOUTH (floor)
MOUTH (other)
NASAL CAVITY
NASOPHARYNX
NERVES
OROPHARYNX
OTHER DIGESTIVE ORG.
OTHER ENDOCRINE Gl.
OTHER FEMALE GEN. ORG.
OTHER HEAD&NECK
OTHER MALE GEN. ORG.
OTHER RESPIR. SYST.
OTHER SITES
OTHER URINARY ORG.
OVARY
PALATE
PANCREAS
PAROTID GLAND
PENIS
PERITONEUM
PLACENTA
PROSTATE
PYRIFORM SINUS
RECTOSIGM. JUNCT.
RECTUM
RENAL PELVIS
SALIVARY GLAND
SINUSES
SKIN
SMALL INTESTINE
SOFT TISSUES
SPINAL CORD
STOMACH
TESTIS
THYMUS
THYROID
TONGUE (base)
TONGUE (other)
TONSIL
UNKNOWN SITE
UP. URINARY TARCT, NOS
URETER
URINARY TRACT, NOS
UTERUS
VAGINA
VULVA
Clear All
Add All
Morphology
Acinar cell carcinoma
Acute leukemia, NOS
Acute megakaryoblastic leukemia
Acute monocytic leukemia
Acute myeloid leukemia with maturation
Acute myeloid leukemia, M6 type
Acute myeloid leukemia, NOS
Acute myeloid leukemia, minimal differentiation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adenocarcinoid tumor
Adenocarcinoma in situ in adenomatous polyp
Adenocarcinoma in situ, NOS
Adenocarcinoma with squamous metaplasia
Adenocarcinoma, NOS
Adenocarcinoma, diffuse type (C16._)
Adenocarcinoma, endocervical type
Adenocarcinoma, intestinal type (C16._)
Adenocarcinoma, metastatic, NOS
Adenofibroma, NOS (C56.9)
Adenoid cystic carcinoma
Adenoma, NOS
Adenomatous polyposis coli (C18._)
Adenosarcoma
Adenosquamous carcinoma
Adrenal cortical adenoma, NOS (C74.0)
Adrenal cortical adenoma, clear cell (C74.0)
Adrenal cortical carcinoma (C74.0)
Adult T-cell leukemia/lymphoma (HTLV-1 positive)
Aggressive NK-cell leukemia
Aggressive fibromatosis
Alveolar rhabdomyosarcoma
Ameloblastoma, NOS
Anaplastic large cell lymphoma, T cell and null cell type
Angioimmunoblastic T-cell lymphoma
Angiomyolipoma
Angiomyoma
Apocrine adenocarcinoma
Askin tumor
Astroblastoma (C71._)
Astrocytoma, NOS (C71._)
Astrocytoma, anaplastic (C71._)
Atypical adenoma
Atypical carcinoid tumor
Atypical choroid plexus papilloma (C71.5)
Atypical fibrous histiocytoma
Atypical medullary carcinoma (C50._)
B Lymphoblastic leukemia/lymphoma with hypodiploidy (Hypodiploid ALL)
B-cell chronic lymphocytic leukemia/small lymphocytic lymphoma
Barrett's esophagus
Basal cell carcinoma, NOS (C44._)
Basal cell carcinoma, nodular (C44._)
Basaloid carcinoma (C21.1)
Basosquamous carcinoma (C44._)
Benign fibrous histiocytoma
Bowen disease (C44._)
Brenner tumor, NOS (C56.9)
Brenner tumor, malignant (C56.9)
Bronchiolo-alveolar adenocarcinoma (C34._)
Burkitt cell leukemia
Burkitt lymphoma, NOS
Canalicular adenoma
Cancer, NOS
Carcinoid tumor of uncertain malignant potential
Carcinoid tumor, NOS (except of Appendix M-8240/1)
Carcinoma in pleomorphic adenoma (C07._, C08._)
Carcinoma in situ, NOS
Carcinoma with osteoclast-like giant cells
Carcinoma, NOS
Carcinoma, anaplastic, NOS
Carcinoma, metastatic, NOS
Carcinoma, undifferentiated, NOS
Carcinosarcoma, NOS
Central neurocytoma
Cholangiocarcinoma (C22.1, C24.0)
Chondroblastic osteosarcoma (C40._, C41._)
Chondrosarcoma, NOS (C40._, C41._)
Chordoma, NOS
Choriocarcinoma, NOS
Choroid plexus carcinoma (C71.5)
Choroid plexus papilloma, NOS (C71.5)
Chronic myeloid leukemia, NOS
Chronic myelomonocytic leukemia, NOS
Clear cell adenocarcinofibroma (C56.9)
Clear cell adenocarcinoma, NOS
Clear cell sarcoma of kidney (C64.9)
Clear cell sarcoma, NOS (except of Kidney M-8964/3)
Combined hepatocellular carcinoma and cholangiocarcinoma (C22.0)
Combined small cell carcinoma
Comedocarcinoma, NOS (C50._)
Comedocarcinoma, noninfiltrating (C50._)
Cribriform carcinoma in situ (C50._)
Cribriform carcinoma, NOS
Cutaneous T-cell lymphoma, NOS (C44._)
Cystadenocarcinoma, NOS
Cystadenoma, NOS
Dedifferentiated chondrosarcoma (C40._, C41._)
Dermatofibroma, NOS (C44._)
Dermatofibrosarcoma, NOS (C44._)
Ductal carcinoma in situ, solid type (C50._)
Dysembryoplastic neuroepithelial tumor (C71._)
Dysgerminoma
Dysplasia, NOS
Dysplasia, mild
Dysplasia, moderate
Dysplasia, severe
Dysplastic nevus (C44._)
Eccrine adenocarcinoma (C44._)
Embryo fibroblasts
Embryonal carcinoma, NOS
Embryonal rhabdomyosarcoma, NOS
Embryonal sarcoma
Endometrioid adenocarcinoma, NOS
Endometriosis, NOS
Ependymoma, NOS (C71._)
Ependymoma, anaplastic (C71._)
Epithelial tumor, benign
Epithelioid leiomyoma
Esophagitis
Essential thrombocythemia
Ewing sarcoma
Fibrillary astrocytoma (C71._)
Fibroadenoma, NOS (C50._)
Fibroma, NOS
Fibrosarcoma, NOS
Fibrosis, NOS
Follicular adenocarcinoma, NOS (C73.9)
Follicular adenocarcinoma, well differentiated (C73.9)
Follicular adenoma (C73.9)
Follicular lymphoma, NOS
Follicular lymphoma, grade 1
Follicular lymphoma, grade 2
Follicular lymphoma, grade 3
Ganglioneuroblastoma
Ganglioneuroma
Gastrointestinal stromal sarcoma
Gastrointestinal stromal tumor, NOS
Gemistocytic astrocytoma (C71._)
Germ cell tumor, nonseminomatous (C62._)
Germinoma
Giant cell and spindle cell carcinoma
Giant cell carcinoma
Giant cell glioblastoma (C71._)
Giant cell tumor of bone, NOS (C40._, C41._)
Giant cell tumor of soft parts, NOS
Glandular intraepithelial neoplasia, grade III
Glassy cell carcinoma
Glioblastoma, NOS (C71._)
Glioma, malignant (C71._)
Gliomatosis cerebri (C71._)
Gliosarcoma (C71._)
Glomus tumor, NOS
Glucagonoma, malignant (C25._)
Goblet cell carcinoid
Granulosa cell tumor, juvenile (C56.9)
Granulosa cell tumor, malignant (C56.9)
Hairy cell leukemia (C42.1)
Hemangioendothelioma, NOS
Hemangioma, NOS
Hemangiopericytoma, NOS
Hemangiosarcoma
Hepatoblastoma (C22.0)
Hepatocellular adenoma (C22.0)
Hepatocellular carcinoma, NOS (C22.0)
Hepatocellular carcinoma, fibrolamellar (C22.0)
Hepatoid adecarcinoma
Hibernoma
Hidrocystoma (C44._)
Histiocytoma, NOS
Hodgkin lymphoma, NOS
Hodgkin lymphoma, lymphocyte-rich
Hodgkin lymphoma, lymphocytic depletion, NOS
Hodgkin lymphoma, mixed cellularity, NOS
Hodgkin lymphoma, nodular sclerosis, NOS
Hodgkin lymphoma, nodular sclerosis, grade 1
Hydatidiform mole, NOS (C58.9)
Hypereosinophilic syndrome
Hyperplasia, NOS
Hyperplasia, glandular
Infiltrating basal cell carcinoma, NOS (C44._)
Infiltrating duct and lobular carcinoma (C50._)
Infiltrating duct carcinoma, NOS (C50._)
Infiltrating ductular carcinoma (C50._)
Inflammatory carcinoma (C50._)
Insulinoma, malignant (C25._)
Intraductal carcinoma and lobular carcinoma in situ (C50._)
Intraductal carcinoma, noninfiltrating, NOS
Intraductal papillary adenocarcinoma with invasion (C50._)
Intraductal papillary-mucinous adenoma (C25._)
Intraductal papillary-mucinous carcinoma, non invasive (C25._)
Kaposi sarcoma
Keloid
Keratoacanthoma, NOS
Keratosis, NOS
Keratosis, actinic
Klatskin tumor (C22.1, C24.0)
Langerhans cell histiocytosis, NOS
Large cell carcinoma, NOS
Large cell neuroendocrine carcinoma
Leiomyoma, NOS
Leiomyosarcoma, NOS
Lentigo maligna melanoma (C44._)
Leucoplakia, NOS
Leukemia, NOS
Leydig cell tumor, malignant (C62._)
Lipoblastomatosis
Lipoma, NOS
Liposarcoma, NOS
Lobular carcinoma, NOS (C50._)
Lymphoid leukemia, NOS
Lymphomatoid papulosis (C44._)
Malignant fibrous histiocytoma
Malignant histiocytosis
Malignant lymphoma, NOS
Malignant lymphoma, large B-cell, diffuse, NOS
Malignant lymphoma, large B-cell, diffuse, immunoblastic, NOS
Malignant lymphoma, mixed small and large cell, diffuse
Malignant lymphoma, non-Hodgkin, NOS
Malignant lymphoma, small B lymphocytic, NOS
Malignant melanoma, NOS
Malignant myoepithelioma
Malignant peripheral nerve sheath tumor
Malignant peripheral nerve sheath tumor with rhabdomyoblastic differentiation
Malignant rhabdoid tumor
Malignant teratoma, intermediate
Mantle cell lymphoma
Marginal zone B-cell lymphoma, NOS
Mature T-cell lymphoma, NOS
Medullary carcinoma, NOS
Medulloblastoma, NOS (C71.6)
Medulloepithelioma, NOS
Melanoma in situ
Meningeal sarcomatosis
Meningioma, NOS
Meningioma, malignant
Merkel cell carcinoma (C44._)
Mesodermal mixed tumor
Mesothelioma, malignant
Metaplasia
Metaplastic carcinoma, NOS
Mixed cell adenocarcinoma
Mixed glioma (C71._)
Mixed liposarcoma
Mixed tumor, malignant, NOS
Mucinous adenocarcinoma
Mucinous cystadenocarcinoma, NOS (C56.9)
Mucinous cystadenocarcinoma, non-invasive (C25._)
Mucinous cystic tumor of borderline malignancy (C56.9)
Mucoepidermoid carcinoma
Mullerian mixed tumor (C54._)
Multifocal superficial basal cell carcinoma (C44._)
Multiple myeloma (C42.1)
Mycosis fungoides (C44._)
Myelodysplastic syndrome with 5q deletion
Myelodysplastic syndrome, NOS
Myeloid leukemia, NOS
Myeloproliferative disease, NOS
Myelosclerosis with myeloid metaplasia
Myoepithelioma
Myofibroblastic tumor, NOS
Myofibroblastoma
Myoma
Myxoid liposarcoma
Myxopapillary ependymoma (C71._)
Myxosarcoma
NK/T-cell lymphoma, nasal and nasal-type
Neoplasm, NOS
Neoplasm, benign
Nephroblastoma, NOS (C64.9)
Neurilemoma, NOS
Neurilemoma, malignant
Neuroblastoma, NOS
Neuroendocrine carcinoma, NOS
Neuroepithelioma, NOS
Neurofibroma, NOS
Nodular melanoma (C44._)
Non-small cell carcinoma (C34._)
Normal tissue
Oat cell carcinoma (C34._)
Oligodendroglioma, NOS (C71._)
Oligodendroglioma, anaplastic (C71._)
Osteochondroma (C40._, C41._)
Osteosarcoma, NOS (C40._, C41._)
Oxyphilic adenocarcinoma
Paget's disease and intraductal carcinoma of breast (C50._)
Paget's disease, mammary (C50._)
Papillary adenocarcinoma, NOS
Papillary carcinoma in situ
Papillary carcinoma, NOS
Papillary carcinoma, follicular variant (C73.9)
Papillary cystadenocarcinoma, NOS (C56.9)
Papillary serous cystadenocarcinoma (C56.9)
Papillary transitional cell carcinoma (C67._)
Papillary transitional cell carcinoma, non invasive (C67._)
Papillary transitional cell neoplasm of low malignant potential (C67._)
Papilloma, NOS (except Papilloma of bladder M-8120/1)
Parosteal osteosarcoma (C40._, C41._)
Periosteal osteosarcoma (C40._, C41._)
Peripheral neuroectodermal tumor
Pheochromocytoma, NOS (C74.1)
Pheochromocytoma, malignant (C74.1)
Phyllodes tumor, benign (C50._)
Phyllodes tumor, malignant (C50._)
Pigmented nevus, NOS (C44._)
Pilocytic astrocytoma (C71._)
Pituitary adenoma, NOS (C75.1)
Pituitary carcinoma, NOS (C75.1)
Plasma cell leukemia (C42.1)
Plasmacytoid carcinoma
Plasmacytoma, NOS
Pleomorphic adenoma
Pleomorphic carcinoma
Pleomorphic liposarcoma
Pleomorphic rhabdomyosarcoma, adult type
Pleomorphic xanthoastrocytoma (C71._)
Pleuropulmonary blastoma
Plexiform fibrohistiocytic tumor
Polycythemia vera
Polyp, NOS
Precursor B-cell lymphoblastic leukemia
Precursor T-cell lymphoblastic leukemia
Precursor T-cell lymphoblastic lymphoma
Precursor cell lymphoblastic leukemia, NOS
Precursor cell lymphoblastic lymphoma, NOS
Primary effusion lymphoma
Primitive neuroectodermal tumor, NOS (C71._)
Prolymphocytic leukemia, NOS
Pseudosarcomatous carcinoma
Pterygium
Pulmonary blastoma (C34._)
Pulmonary sclerosing hemangioma
Refractory anemia with excess blasts
Refractory anemia with excess blasts in transformation
Renal cell carcinoma, NOS (C64.9)
Renal cell carcinoma, chromophobe type (C64.9)
Renal cell carcinoma, sarcomatoid (C64.9)
Retinoblastoma, NOS (C69.2)
Rhabdomyosarcoma, NOS
Sarcoma, NOS
Scirrhous adenocarcinoma
Sebaceous adenocarcinoma (C44._)
Secretory carcinoma of breast (C50._)
Seminoma, NOS (C62._)
Serous adenocarcinofibroma
Serous cystadenocarcinoma, NOS (C56.9)
Serous cystadenoma, borderline malignancy (C56.9)
Serous surface papillary carcinoma (C56.9)
Serous surface papillary tumor of borderline malignancy (C56.9)
Serrated adenoma (C18._)
Sex cord-gonadal stromal tumor, NOS
Sezary syndrome
Signet ring cell carcinoma
Small cell carcinoma, NOS
Small cell carcinoma, fusiform cell
Small cell carcinoma, intermediate cell
Solid carcinoma, NOS
Solitary fibrous tumor, malignant
Spindle cell carcinoma, NOS
Spindle cell sarcoma
Splenic marginal zone-B-cell lymphoma (C42.2)
Squamous cell carcinoma in situ with questionable stromal invasion
Squamous cell carcinoma in situ, NOS
Squamous cell carcinoma, NOS
Squamous cell carcinoma, adenoïd
Squamous cell carcinoma, keratinizing, NOS
Squamous cell carcinoma, large cell, nonkeratinizing, NOS
Squamous cell carcinoma, metastatic, NOS
Squamous cell carcinoma, spindle cell
Squamous intraepithelial neoplasia, grade III
Stromal sarcoma, NOS
Superficial spreading melanoma (C44._)
Sweat gland adenocarcinoma (C44._)
Synovial sarcoma, NOS
Synovial sarcoma, biphasic
T-cell large granular lymphocytic leukemia
Teratocarcinoma
Teratoma with malignant transformation
Teratoma, NOS
Teratoma, benign
Teratoma, malignant, NOS
Therapy-related acute myeloid leukemia, NOS
Therapy-related myelodysplastic syndrome
Thymic carcinoma, NOS (C37.9)
Thymoma, NOS (C37.9)
Thymoma, malignant (C37.9)
Transitional cell carcinoma in situ
Transitional cell carcinoma, NOS
Trichilemmocarcinoma (C44._)
Trichilemmoma (C44._)
Trichoepithelioma (C44._)
Tubular adenocarcinoma
Tubular adenoma, NOS
Tubulovillous adenoma, NOS
Tumor cells, NOS
Undifferentiated sarcoma
Urothelial papilloma, NOS
Villous adenoma, NOS
Waldenstrom macroglobulinemia (C42.0)
Yolk sac tumor
Clear All
Add All
Variant
cDNA Descriptions
c.(?_-1)_(*1_?)del
c.*267G>A
c.1-10782G>T
c.1-10788G>C
c.1-3176A>T
c.1000G>A
c.1000G>C
c.1006G>T
c.1006_1007insNNNNNN
c.1009C>T
c.1010G>A
c.1010G>C
c.1010G>T
c.1013T>G
c.1015G>A
c.1015G>C
c.1015G>T
c.1024C>T
c.1025G>C
c.1027G>T
c.1031T>C
c.1036G>T
c.1040C>A
c.1054G>A
c.1073A>T
c.1076C>T
c.1079G>C
c.107C>T
c.1093C>T
c.1096T>G
c.1101-2A>G
c.1123C>T
c.1129del
c.112C>T
c.1136G>A
c.1146del
c.1163A>C
c.142del
c.145G>C
c.145del
c.149T>C
c.150T>A
c.151del
c.154C>T
c.166G>T
c.170A>T
c.184G>T
c.189delinsNNN
c.1_1182del
c.202G>T
c.210_211insN
c.213_214insN
c.214del
c.216_217insN
c.242del
c.245C>T
c.261_270del
c.266_269del
c.267delC
c.272G>A
c.273_274insG
c.277_278del
c.286_288del
c.289G>A
c.291del
c.293C>G
c.293del
c.294_297del
c.298C>T
c.309C>A
c.309C>G
c.310C>T
c.313G>T
c.314G>T
c.318C>G
c.319T>C
c.31G>C
c.320_321insN
c.321C>A
c.322G>A
c.323_329dup
c.326T>C
c.326del
c.328_329delinsT
c.328_329insNNNNNNN
c.329G>A
c.329G>C
c.329G>T
c.329_330insNNNNNNN
c.330_331insNNNNNNN
c.332T>C
c.339_341del
c.354A>T
c.356C>G
c.358A>T
c.361T>A
c.364_365ins31
c.365_366del
c.372C>A
c.373A>C
c.374C>A
c.374C>G
c.374C>T
c.374_375+7del
c.375+1G>A
c.375+1_375+2insN
c.375+2T>C
c.375+5G>C
c.375G>A
c.375G>C
c.375G>T
c.375del
c.376-1G>A
c.376-2A>G
c.376-2_376-1insN
c.377A>G
c.378C>G
c.379T>A
c.379T>C
c.384_385delinsC
c.388C>T
c.389T>A
c.389T>C
c.390_426del
c.392A>G
c.392A>T
c.393_395del
c.394A>C
c.394A>G
c.395A>G
c.398T>C
c.398T>G
c.401T>A
c.402T>G
c.406C>T
c.406_424delinsACAA
c.412G>C
c.412G>T
c.413C>T
c.418_454del
c.420-421insAGACC
c.422G>A
c.423C>G
c.427G>A
c.428T>C
c.431A>T
c.437G>A
c.438G>A
c.439G>A
c.439_445del
c.439del
c.448_460del
c.450del
c.451C>A
c.451C>G
c.451C>T
c.453_454insN
c.453_455del
c.454_455insC
c.454_466del
c.455C>T
c.455del
c.461G>T
c.464C>A
c.466C>T
c.467G>A
c.467G>C
c.469G>A
c.469G>T
c.470T>A
c.472C>G
c.472C>T
c.473G>A
c.473G>C
c.473G>T
c.475_482del
c.476C>A
c.481G>A
c.481_482insNNNNNNN
c.484A>T
c.485T>A
c.486del
c.488A>G
c.489C>G
c.491_494del
c.493C>T
c.499C>A
c.499C>T
c.503A>G
c.503A>T
c.509C>T
c.509_512del
c.514G>A
c.514G>T
c.517G>A
c.518T>C
c.520A>G
c.522_523insN
c.523C>G
c.523C>T
c.524G>A
c.524G>T
c.526T>G
c.527G>A
c.528C>A
c.52del
c.530C>G
c.532C>G
c.532del
c.534C>G
c.535C>T
c.536A>G
c.537T>A
c.537T>G
c.538G>A
c.541C>A
c.541C>T
c.542G>A
c.542G>C
c.542G>T
c.548C>A
c.550del
c.554G>A
c.555C>T
c.559+1G>A
c.559+1G>T
c.559+2T>A
c.559+2T>G
c.559+5G>A
c.559G>C
c.560-11_560-1del
c.560-15_560-5del
c.560-1G>A
c.560-1G>C
c.560-2A>C
c.563T>C
c.566C>A
c.566C>T
c.569C>G
c.569C>T
c.571_572del
c.577C>G
c.577C>T
c.578A>C
c.578A>G
c.580C>T
c.584T>A
c.584T>C
c.586C>T
c.587G>A
c.587G>C
c.589G>A
c.590T>A
c.592G>T
c.596G>T
c.604C>T
c.613T>G
c.613del
c.614A>G
c.618_624del
c.620A>G
c.625A>T
c.625_626del
c.626_627del
c.628A>T
c.631_632del
c.632_641del
c.634del
c.637C>T
c.638G>A
c.638G>C
c.638G>T
c.63C>T
c.641A>G
c.642_643insNNNNNN
c.643A>G
c.643_660del
c.643del
c.645del
c.646G>A
c.652G>A
c.655C>T
c.659A>C
c.659A>G
c.662del
c.665C>T
c.666G>A
c.672+1G>A
c.672+1G>T
c.672+2T>C
c.672+2T>G
c.672+389_994-765del
c.672+65_672+66insNN
c.672G>T
c.673-1G>A
c.673-2A>G
c.673-39G>A
c.679T>A
c.681_682insT
c.685T>C
c.685_686insN
c.686_687del
c.695T>C
c.697C>G
c.700T>C
c.701A>G
c.703A>G
c.704A>G
c.706_708del
c.707A>G
c.708C>A
c.709A>G
c.710T>A
c.711G>A
c.712T>A
c.712T>G
c.713G>A
c.713G>C
c.716del
c.717C>G
c.717_718del
c.718A>G
c.721T>A
c.721del
c.722C>A
c.722C>T
c.723del
c.724T>C
c.725G>A
c.725G>T
c.728T>C
c.72del
c.730G>A
c.730del
c.731G>A
c.731G>T
c.733G>A
c.733G>T
c.734G>A
c.734G>T
c.736A>C
c.736A>G
c.736A>T
c.737T>C
c.74+2_96+29del
c.74+78G>T
c.742C>T
c.743G>A
c.743G>T
c.746G>A
c.746G>C
c.748del
c.749C>T
c.75-10_81del
c.75-18_78dup
c.75-32C>A
c.751A>C
c.752T>C
c.753C>G
c.753C>T
c.760A>G
c.761T>A
c.761T>C
c.763_765del
c.764_766del
c.766A>C
c.767C>T
c.770T>A
c.770del
c.772G>A
c.773A>C
c.782+143_835delinsGCC
c.782+1G>A
c.783-1G>A
c.783-2A>G
c.784G>A
c.78del
c.790_792del
c.790del
c.794T>C
c.797G>A
c.799C>T
c.800G>A
c.801_802insG
c.808T>C
c.80C>T
c.80del
c.812A>T
c.814G>A
c.814G>T
c.815T>C
c.817C>A
c.817C>G
c.817C>T
c.818G>A
c.818G>T
c.818_827del
c.820_821insNNN
c.820del
c.823T>C
c.824G>A
c.824G>T
c.825T>A
c.825_832delinsNNNNN
c.826_840del
c.827C>A
c.830G>A
c.832C>G
c.832C>T
c.833C>T
c.835G>A
c.839G>A
c.839G>C
c.840A>C
c.841G>A
c.841G>T
c.842A>G
c.842A>T
c.843C>A
c.844C>G
c.844C>T
c.844_845insC
c.844_851del
c.845G>A
c.845G>C
c.846del
c.847C>T
c.848G>A
c.848G>C
c.848_849insGGCG
c.850A>T
c.853G>A
c.853G>C
c.854A>T
c.856G>A
c.857A>C
c.859G>A
c.859G>T
c.868C>T
c.869G>A
c.869G>T
c.872A>G
c.875A>T
c.877G>T
c.879_880insN
c.880G>T
c.892G>A
c.892G>T
c.892delinsTTT
c.898_899insNNNN
c.902_903insC
c.904G>A
c.906del
c.910A>G
c.913_916del
c.914A>T
c.916C>T
c.916_917insNNNN
c.917G>A
c.917G>C
c.919+1G>A
c.919+1G>T
c.919del
c.91G>A
c.920-1G>T
c.920-5C>T
c.925C>T
c.927_936del
c.929_930insN
c.936del
c.951G>C
c.951del
c.96+31_97-32del
c.961A>G
c.966A>G
c.97-11C>G
c.97-1G>A
c.97-28T>A
c.970G>C
c.974G>T
c.991C>T
c.993+1G>A
c.993+1del
c.993+307C>G
c.993+309C>T
c.993+851_1100+280del
c.993G>A
c.994-1G>A
c.994-1G>C
c.994-1G>T
c.994A>T
c.994_1139del
c.996C>G
c.997C>G
c.997C>T
c.997_998insN
c.?
c.?(322GGTTTCCGTCTG>ATTCAG)
c.?(451C>G)
c.?(652del)
c.?(del exon1)
c.?(del exon1-10)
c.?(del exon1-9)
c.?(del exon10-11)
c.?(del exon2-10)
c.?(del exon2-4)
c.?(del exon2-9)
c.?(del exon5)
c.?(del exon5-9)
c.?(del prom_ex1)
c.?(del)
c.?(del45kb)
c.?(dup exon4)
c.?(exon8del)
c.?(large del)
i.e.: c.524G>A or 524G>A
Reference Sequence: NM_000546.5
Clear All
Protein Descriptions
>
p.?
p.A119G
p.A138P
p.A138S
p.A138V
p.A159D
p.A161T
p.A189D
p.A189V
p.A276D
p.A307fs
p.A347D
p.C124*
p.C141W
p.C141Y
p.C176*
p.C176G
p.C176Y
p.C229R
p.C229fs
p.C238G
p.C238S
p.C238Y
p.C242F
p.C242R
p.C242Y
p.C275*
p.C275F
p.C275R
p.C275Y
p.C277Y
p.D184fs
p.D207G
p.D21D
p.D281E
p.D281G
p.D281N
p.D281V
p.D281Y
p.D324H
p.D352N
p.D48fs
p.D49H
p.D49fs
p.D57V
p.E11Q
p.E180K
p.E198*
p.E221fs
p.E224D
p.E258A
p.E258K
p.E271V
p.E285K
p.E285Q
p.E285V
p.E286A
p.E286K
p.E287*
p.E287K
p.E294*
p.E294fs
p.E298*
p.E298K
p.E336*
p.E339*
p.E339K
p.E339Q
p.E343*
p.E346*
p.E358V
p.E388A
p.E51fs
p.E56*
p.E62*
p.E68*
p.F109S
p.F134L
p.F134Y
p.F212fs
p.F270L
p.F338C
p.G105C
p.G105V
p.G108S
p.G108_L111delinsIQ
p.G154V
p.G187R
p.G199V
p.G244D
p.G244S
p.G244V
p.G244fs
p.G245C
p.G245D
p.G245S
p.G245V
p.G262S
p.G266E
p.G279R
p.G293W
p.G302R
p.G302fs
p.G325V
p.G334R
p.G360A
p.H168L
p.H168R
p.H178D
p.H178Q
p.H178fs
p.H179Q
p.H179R
p.H179Y
p.H193D
p.H193P
p.H193R
p.H193Y
p.H214R
p.H233D
p.H365Y
p.I162F
p.I162N
p.I162fs
p.I195N
p.I195T
p.I232T
p.I251I
p.I251L
p.I251M
p.I251T
p.I254N
p.I254T
p.I254V
p.I255del
p.I332F
p.I332M
p.I50I
p.I50T
p.K120*
p.K132E
p.K132Q
p.K132R
p.K164fs
p.K24fs
p.K291R
p.K292I
p.K305M
p.K321E
p.K382fs
p.L111P
p.L130F
p.L130H
p.L130P
p.L188P
p.L194F
p.L257Q
p.L257fs
p.L264del
p.L264fs
p.L265P
p.L26fs
p.L344P
p.M133R
p.M133T
p.M237I
p.M237K
p.M237V
p.M243T
p.M246L
p.M246T
p.M246V
p.N131I
p.N131S
p.N131del
p.N210Y
p.N235D
p.N235S
p.N239K
p.N239fs
p.N310fs
p.P151A
p.P151S
p.P151T
p.P151fs
p.P152L
p.P152fs
p.P177R
p.P190L
p.P190R
p.P191fs
p.P219S
p.P222L
p.P222P
p.P250L
p.P250fs
p.P278A
p.P278L
p.P278S
p.P27L
p.P27fs
p.P300fs
p.P309S
p.P322P
p.P359L
p.P36L
p.P71fs
p.P82L
p.P89fs
p.P98R
p.P98fs
p.Q100*
p.Q104*
p.Q136*
p.Q144L
p.Q165*
p.Q167*
p.Q167K
p.Q317H
p.Q317fs
p.Q331*
p.Q331Q
p.Q375*
p.Q38*
p.Q52*
p.R110H
p.R110L
p.R110P
p.R156C
p.R156H
p.R156P
p.R158C
p.R158G
p.R158H
p.R158L
p.R158P
p.R174G
p.R174fs
p.R175C
p.R175G
p.R175H
p.R175L
p.R181C
p.R181H
p.R181L
p.R181P
p.R181S
p.R196*
p.R196P
p.R196Q
p.R202C
p.R209*
p.R209fs
p.R213*
p.R213L
p.R213P
p.R213Q
p.R248L
p.R248Q
p.R248W
p.R249K
p.R249T
p.R267Q
p.R267W
p.R273C
p.R273G
p.R273H
p.R273L
p.R273S
p.R280K
p.R280S
p.R280T
p.R282G
p.R282P
p.R282Q
p.R282W
p.R283C
p.R283H
p.R283P
p.R283fs
p.R290C
p.R290H
p.R290L
p.R306*
p.R306P
p.R306Q
p.R306fs
p.R333C
p.R333G
p.R333fs
p.R337C
p.R337H
p.R337L
p.R337P
p.R342*
p.R342P
p.R379H
p.S106R
p.S121T
p.S127P
p.S127T
p.S183*
p.S185N
p.S185S
p.S215G
p.S215fs
p.S227T
p.S240G
p.S241F
p.S241T
p.S241Y
p.S241fs
p.S366A
p.S96del
p.T118T
p.T125K
p.T125M
p.T125P
p.T125R
p.T125T
p.T125fs
p.T150fs
p.T155N
p.T170M
p.T170fs
p.T18fs
p.T211fs
p.T256I
p.T256P
p.T284S
p.T304A
p.T312fs
p.T377fs
p.V122fs
p.V143A
p.V143M
p.V147I
p.V147fs
p.V157D
p.V157F
p.V157I
p.V172F
p.V172I
p.V173A
p.V173M
p.V197E
p.V197M
p.V216M
p.V218M
p.V225_Q331del
p.V272A
p.V272L
p.V272M
p.V274fs
p.V31I
p.V73fs
p.V97I
p.W146*
p.W91*
p.Y103*
p.Y107*
p.Y107H
p.Y107fs
p.Y126*
p.Y126C
p.Y126_K132del
p.Y163*
p.Y163C
p.Y205C
p.Y205D
p.Y205fs
p.Y220C
p.Y220S
p.Y234C
p.Y234H
p.Y236*
p.Y236C
p.Y236del
i.e.: p.R175H or R175H
Reference Sequence: UniProt P04637
Clear All
Genomic Descriptions (hg19)
g.7572660C>T
g.7572927_7579912del
g.7572946T>G
g.7572963del
g.7572970_7574033
g.7572973C>T
g.7572980del
g.7572986G>A
g.7573010T>C
g.7573647_7576002del
g.7573931A>C
g.7573934G>A
g.7573948C>G
g.7573951G>A
g.7573954T>A
g.7573973C>T
g.7573987G>T
g.7573991C>A
g.7573996A>G
g.7574000C>A
g.7574002C>G
g.7574003G>A
g.7574012C>A
g.7574012C>G
g.7574012C>T
g.7574014A>C
g.7574017C>A
g.7574017C>G
g.7574017C>T
g.7574018G>A
g.7574020_7574021insNNNNNN
g.7574021C>A
g.7574027C>G
g.7574027C>T
g.7574029_7574030insN
g.7574030G>A
g.7574030G>C
g.7574031G>C
g.7574033T>A
g.7574034C>A
g.7574034C>G
g.7574034C>T
g.7574798_7577788del
g.7576544G>A
g.7576546G>C
g.7576852C>T
g.7576852del
g.7576853C>T
g.7576855G>A
g.7576872C>A
g.7576876C>G
g.7576880T>C
g.7576885T>C
g.7576895C>G
g.7576895del
g.7576910_7576919del
g.7576910del
g.7576916_7576917insN
g.7576921G>A
g.7576927C>A
g.7576931G>A
g.7577018C>A
g.7577018C>T
g.7577019del
g.7577021C>G
g.7577021C>T
g.7577021_7577022insNNNN
g.7577022G>A
g.7577022_7577025del
g.7577024T>A
g.7577028T>C
g.7577032del
g.7577034C>T
g.7577035_7577036insG
g.7577039_7577040insNNNN
g.7577046C>A
g.7577046C>T
g.7577058C>A
g.7577058_7577059insN
g.7577061C>A
g.7577063T>A
g.7577066T>C
g.7577069C>A
g.7577069C>T
g.7577070G>A
g.7577079C>A
g.7577079C>T
g.7577081T>G
g.7577082C>T
g.7577084T>A
g.7577085C>G
g.7577085C>T
g.7577087_7577094del
g.7577088T>A
g.7577089_7577090insCGCC
g.7577090C>G
g.7577090C>T
g.7577091G>A
g.7577092del
g.7577093C>G
g.7577093C>T
g.7577093_7577094insG
g.7577094G>A
g.7577094G>C
g.7577095G>T
g.7577096T>A
g.7577096T>C
g.7577097C>A
g.7577097C>T
g.7577098T>G
g.7577098_7577112del
g.7577099C>G
g.7577099C>T
g.7577103C>T
g.7577103_7577356delinsGGC
g.7577105G>A
g.7577106G>A
g.7577106G>C
g.7577106_7577113delinsNNNNN
g.7577108C>T
g.7577111G>T
g.7577111_7577120del
g.7577113A>T
g.7577114C>A
g.7577114C>T
g.7577115A>G
g.7577117_7577118insNNN
g.7577118del
g.7577120C>A
g.7577120C>T
g.7577121G>A
g.7577121G>C
g.7577121G>T
g.7577123A>G
g.7577124C>A
g.7577124C>T
g.7577126T>A
g.7577130A>G
g.7577136_7577137insC
g.7577138C>T
g.7577139G>A
g.7577141C>T
g.7577144A>G
g.7577146_7577148del
g.7577148del
g.7577154C>T
g.7577156C>T
g.7577157T>C
g.7577498C>T
g.7577508T>G
g.7577509C>T
g.7577511A>T
g.7577511del
g.7577514G>A
g.7577515T>G
g.7577515_7577517del
g.7577516_7577518del
g.7577520A>G
g.7577520A>T
g.7577521T>C
g.7577528G>A
g.7577528G>C
g.7577529A>G
g.7577530T>G
g.7577532G>A
g.7577533del
g.7577535C>G
g.7577535C>T
g.7577538C>A
g.7577538C>T
g.7577539G>A
g.7577544A>G
g.7577545T>A
g.7577545T>C
g.7577545T>G
g.7577547C>A
g.7577547C>T
g.7577548C>A
g.7577548C>T
g.7577550C>A
g.7577550C>T
g.7577551C>T
g.7577551del
g.7577553A>G
g.7577556C>A
g.7577556C>T
g.7577557A>G
g.7577558del
g.7577559G>A
g.7577559G>T
g.7577560A>T
g.7577560del
g.7577563T>C
g.7577563_7577564del
g.7577564G>C
g.7577565del
g.7577568C>G
g.7577568C>T
g.7577569A>C
g.7577569A>T
g.7577570C>T
g.7577571A>T
g.7577572T>C
g.7577573G>T
g.7577573_7577575del
g.7577574T>C
g.7577577T>C
g.7577578T>C
g.7577580T>C
g.7577581A>G
g.7577584G>C
g.7577586A>G
g.7577594_7577595del
g.7577595_7577596insN
g.7577596A>G
g.7577599_7577600insA
g.7577602A>T
g.7577609C>T
g.7577610T>C
g.7577647C>T
g.7578111_7578112insNN
g.7578175A>C
g.7578175A>G
g.7578176C>A
g.7578176C>T
g.7578177C>A
g.7578183C>T
g.7578184G>A
g.7578187del
g.7578189_7578206del
g.7578190T>C
g.7578190T>G
g.7578194G>A
g.7578197C>T
g.7578203C>T
g.7578204del
g.7578206T>C
g.7578206_7578207insNNNNNN
g.7578206del
g.7578208T>C
g.7578208_7578217del
g.7578211C>A
g.7578211C>G
g.7578211C>T
g.7578212G>A
g.7578215del
g.7578217_7578218del
g.7578221T>A
g.7578222_7578223del
g.7578223_7578224del
g.7578224T>A
g.7578225_7578231del
g.7578229T>C
g.7578235T>C
g.7578236A>C
g.7578236del
g.7578245G>A
g.7578253C>A
g.7578257C>A
g.7578259A>T
g.7578260C>T
g.7578262C>G
g.7578262C>T
g.7578263G>A
g.7578265A>G
g.7578265A>T
g.7578269G>A
g.7578271T>C
g.7578271T>G
g.7578272G>A
g.7578272G>C
g.7578277_7578278del
g.7578280G>A
g.7578280G>C
g.7578283G>A
g.7578283G>T
g.7578286A>G
g.7578290C>G
g.7578290C>T
g.7578290_7578300del
g.7578291T>G
g.7578294_7578304del
g.7578366C>T
g.7578369A>C
g.7578369A>T
g.7578370C>A
g.7578370C>T
g.7578371C>G
g.7578375G>A
g.7578376C>T
g.7578380del
g.7578382G>T
g.7578388C>A
g.7578388C>G
g.7578388C>T
g.7578389G>A
g.7578389G>T
g.7578392C>T
g.7578393A>C
g.7578393A>T
g.7578394T>C
g.7578395G>A
g.7578396G>C
g.7578398G>C
g.7578398del
g.7578400G>C
g.7578402G>T
g.7578403C>T
g.7578404A>C
g.7578406C>A
g.7578406C>T
g.7578407G>A
g.7578407G>C
g.7578407_7578408insN
g.7578410T>C
g.7578412A>G
g.7578413C>T
g.7578416C>A
g.7578416C>T
g.7578418_7578421del
g.7578421G>A
g.7578427T>A
g.7578427T>C
g.7578431G>A
g.7578431G>T
g.7578436_7578439del
g.7578437G>A
g.7578441G>C
g.7578442T>C
g.7578444del
g.7578445A>T
g.7578446T>A
g.7578448_7578449insNNNNNNN
g.7578448_7578455del
g.7578449C>T
g.7578454G>T
g.7578457C>A
g.7578457C>G
g.7578457C>T
g.7578458G>A
g.7578458G>C
g.7578460A>T
g.7578461C>A
g.7578461C>T
g.7578463C>G
g.7578463C>T
g.7578464G>A
g.7578464_7578476del
g.7578466G>T
g.7578469C>A
g.7578470_7578482del
g.7578475G>A
g.7578475_7578476insG
g.7578475_7578477del
g.7578475del
g.7578476_7578477insN
g.7578476_7578512del
g.7578479G>A
g.7578479G>C
g.7578479G>T
g.7578480del
g.7578485_7578491del
g.7578491C>T
g.7578491del
g.7578492C>T
g.7578493C>T
g.7578499T>A
g.7578502A>G
g.7578503C>T
g.7578504_7578540del
g.7578507G>C
g.7578508C>T
g.7578509_7578510insGGTCT
g.7578517G>A
g.7578518C>A
g.7578518C>G
g.7578524G>A
g.7578528A>C
g.7578529A>T
g.7578532A>C
g.7578532A>G
g.7578535T>C
g.7578535_7578537del
g.7578536T>C
g.7578536T>G
g.7578538T>A
g.7578538T>C
g.7578541A>G
g.7578541A>T
g.7578542G>A
g.7578545_7578546delinsG
g.7578551A>G
g.7578551A>T
g.7578552G>C
g.7578553T>C
g.7578555C>T
g.7578555_7578556insN
g.7578556T>C
g.7579305_7579313del
g.7579307C>G
g.7579310A>G
g.7579310_7579311insN
g.7579311C>T
g.7579312C>A
g.7579312C>G
g.7579312C>T
g.7579312del
g.7579313G>A
g.7579313G>C
g.7579313G>T
g.7579314T>G
g.7579315G>T
g.7579321_7579322del
g.7579322_7579323ins31
g.7579326A>T
g.7579329T>A
g.7579331G>C
g.7579333T>A
g.7579346_7579348del
g.7579355A>G
g.7579356_7579357insNNNNNNN
g.7579357_7579358insNNNNNNN
g.7579358C>A
g.7579358C>G
g.7579358C>T
g.7579358_7579359insNNNNNNN
g.7579361A>G
g.7579361del
g.7579365C>T
g.7579366G>T
g.7579366_7579367insN
g.7579368A>G
g.7579369G>C
g.7579373C>A
g.7579374C>A
g.7579377G>A
g.7579378G>C
g.7579378G>T
g.7579389G>A
g.7579390_7579393del
g.7579394G>C
g.7579394del
g.7579396del
g.7579398C>T
g.7579399_7579401del
g.7579409_7579410del
g.7579413_7579414insC
g.7579415C>T
g.7579417_7579426del
g.7579418_7579421del
g.7579442G>A
g.7579445del
g.7579470_7579471insN
g.7579473_7579474insN
g.7579473del
g.7579476_7579477insN
g.7579485C>A
g.7579498delinsNNN
g.7579503C>A
g.7579517T>A
g.7579521C>A
g.7579533G>A
g.7579536del
g.7579537A>T
g.7579538A>G
g.7579542C>G
g.7579542del
g.7579545del
g.7579575G>A
g.7579580G>A
g.7579591C>T
g.7579601G>C
g.7579618A>T
g.7579622_7579669del
g.7579671_7579837del
g.7579705C>T
g.7579715_7579731del
g.7579716G>A
g.7579716del
g.7579718del
g.7579753G>T
g.7579761C>A
g.7579841del
g.7579850G>A
g.7579861del
g.7579882C>G
g.7583088T>A
g.7590694C>A
g.7590700C>G
g.?
g.?(del prom_ex1)
g.?(del)
g.?(del45kb)
g.?(large del)
i.e.: g.7578406C>T or 7578406C>T
Reference Sequence: GenBank NC_000017.10
Clear All
Genomic Descriptions (hg38)
g.7669342C>T
g.7669609_7676594del
g.7669628T>G
g.7669645del
g.7669652_7670715del
g.7669655C>T
g.7669662del
g.7669668G>A
g.7669692T>C
g.7670329_7672684del
g.7670613A>C
g.7670616G>A
g.7670630C>G
g.7670633G>A
g.7670636T>A
g.7670655C>T
g.7670669G>T
g.7670673C>A
g.7670678A>G
g.7670682C>A
g.7670684C>G
g.7670685G>A
g.7670694C>A
g.7670694C>G
g.7670694C>T
g.7670696A>C
g.7670699C>A
g.7670699C>G
g.7670699C>T
g.7670700G>A
g.7670702_7670703insNNNNNN
g.7670703C>A
g.7670709C>G
g.7670709C>T
g.7670711_7670712insN
g.7670712G>A
g.7670712G>C
g.7670713G>C
g.7670715T>A
g.7670716C>A
g.7670716C>G
g.7670716C>T
g.7671480_7674470del
g.7673226G>A
g.7673228G>C
g.7673534C>T
g.7673534del
g.7673535C>T
g.7673537G>A
g.7673554C>A
g.7673558C>G
g.7673562T>C
g.7673567T>C
g.7673577C>G
g.7673577del
g.7673592_7673601del
g.7673592del
g.7673598_7673599insN
g.7673603G>A
g.7673609C>A
g.7673613G>A
g.7673700C>A
g.7673700C>T
g.7673701del
g.7673703C>G
g.7673703C>T
g.7673703_7673704insNNNN
g.7673704G>A
g.7673704_7673707del
g.7673706T>A
g.7673710T>C
g.7673714del
g.7673716C>T
g.7673717_7673718insG
g.7673721_7673722insNNNN
g.7673728C>A
g.7673728C>T
g.7673740C>A
g.7673740_7673741insN
g.7673743C>A
g.7673745T>A
g.7673748T>C
g.7673751C>A
g.7673751C>T
g.7673752G>A
g.7673761C>A
g.7673761C>T
g.7673763T>G
g.7673764C>T
g.7673766T>A
g.7673767C>G
g.7673767C>T
g.7673769_7673776del
g.7673770T>A
g.7673771_7673772insCGCC
g.7673772C>G
g.7673772C>T
g.7673773G>A
g.7673774del
g.7673775C>G
g.7673775C>T
g.7673775_7673776insG
g.7673776G>A
g.7673776G>C
g.7673777G>T
g.7673778T>A
g.7673778T>C
g.7673779C>A
g.7673779C>T
g.7673780T>G
g.7673780_7673794del
g.7673781C>G
g.7673781C>T
g.7673785C>T
g.7673785_7674038delinsGGC
g.7673787G>A
g.7673788G>A
g.7673788G>C
g.7673788_7673795delinsNNNNN
g.7673790C>T
g.7673793G>T
g.7673793_7673802del
g.7673795A>T
g.7673796C>A
g.7673796C>T
g.7673797A>G
g.7673799_7673800insNNN
g.7673800del
g.7673802C>A
g.7673802C>T
g.7673803G>A
g.7673803G>C
g.7673803G>T
g.7673805A>G
g.7673806C>A
g.7673806C>T
g.7673808T>A
g.7673812A>G
g.7673818_7673819insC
g.7673820C>T
g.7673821G>A
g.7673823C>T
g.7673826A>G
g.7673828_7673830del
g.7673830del
g.7673836C>T
g.7673838C>T
g.7673839T>C
g.7674180C>T
g.7674190T>G
g.7674191C>T
g.7674193A>T
g.7674193del
g.7674196G>A
g.7674197T>G
g.7674197_7674199del
g.7674198_7674200del
g.7674202A>G
g.7674202A>T
g.7674203T>C
g.7674210G>A
g.7674210G>C
g.7674211A>G
g.7674212T>G
g.7674214G>A
g.7674215del
g.7674217C>G
g.7674217C>T
g.7674220C>A
g.7674220C>T
g.7674221G>A
g.7674226A>G
g.7674227T>A
g.7674227T>C
g.7674227T>G
g.7674229C>A
g.7674229C>T
g.7674230C>A
g.7674230C>T
g.7674232C>A
g.7674232C>T
g.7674233C>T
g.7674233del
g.7674235A>G
g.7674238C>A
g.7674238C>T
g.7674239A>G
g.7674240del
g.7674241G>A
g.7674241G>T
g.7674242A>T
g.7674242del
g.7674245T>C
g.7674245_7674246del
g.7674246G>C
g.7674247del
g.7674250C>G
g.7674250C>T
g.7674251A>C
g.7674251A>T
g.7674252C>T
g.7674253A>T
g.7674254T>C
g.7674255G>T
g.7674255_7674257del
g.7674256T>C
g.7674259T>C
g.7674260T>C
g.7674262T>C
g.7674263A>G
g.7674266G>C
g.7674268A>G
g.7674276_7674277del
g.7674277_7674278insN
g.7674278A>G
g.7674281_7674282insA
g.7674284A>T
g.7674291C>T
g.7674292T>C
g.7674329C>T
g.7674793_7674794insNN
g.7674857A>C
g.7674857A>G
g.7674858C>A
g.7674858C>T
g.7674859C>A
g.7674865C>T
g.7674866G>A
g.7674869del
g.7674871_7674888del
g.7674872T>C
g.7674872T>G
g.7674876G>A
g.7674879C>T
g.7674885C>T
g.7674886del
g.7674888T>C
g.7674888_7674889insNNNNNN
g.7674888del
g.7674890T>C
g.7674890_7674899del
g.7674893C>A
g.7674893C>G
g.7674893C>T
g.7674894G>A
g.7674897del
g.7674899_7674900del
g.7674903T>A
g.7674904_7674905del
g.7674905_7674906del
g.7674906T>A
g.7674907_7674913del
g.7674911T>C
g.7674917T>C
g.7674918A>C
g.7674918del
g.7674927G>A
g.7674935C>A
g.7674939C>A
g.7674941A>T
g.7674942C>T
g.7674944C>G
g.7674944C>T
g.7674945G>A
g.7674947A>G
g.7674947A>T
g.7674951G>A
g.7674953T>C
g.7674953T>G
g.7674954G>A
g.7674954G>C
g.7674959_7674960del
g.7674962G>A
g.7674962G>C
g.7674965G>A
g.7674965G>T
g.7674968A>G
g.7674972C>G
g.7674972C>T
g.7674972_7674982del
g.7674973T>G
g.7674976_7674986del
g.7675048C>T
g.7675051A>C
g.7675051A>T
g.7675052C>A
g.7675052C>T
g.7675053C>G
g.7675057G>A
g.7675058C>T
g.7675062del
g.7675064G>T
g.7675070C>A
g.7675070C>G
g.7675070C>T
g.7675071G>A
g.7675071G>T
g.7675074C>T
g.7675075A>C
g.7675075A>T
g.7675076T>C
g.7675077G>A
g.7675078G>C
g.7675080G>C
g.7675080del
g.7675082G>C
g.7675084G>T
g.7675085C>T
g.7675086A>C
g.7675088C>A
g.7675088C>T
g.7675089G>A
g.7675089G>C
g.7675089_7675090insN
g.7675092T>C
g.7675094A>G
g.7675095C>T
g.7675098C>A
g.7675098C>T
g.7675100_7675103del
g.7675103G>A
g.7675109T>A
g.7675109T>C
g.7675113G>A
g.7675113G>T
g.7675118_7675121del
g.7675119G>A
g.7675123G>C
g.7675124T>C
g.7675126del
g.7675127A>T
g.7675128T>A
g.7675130_7675131insNNNNNNN
g.7675130_7675137del
g.7675131C>T
g.7675136G>T
g.7675139C>A
g.7675139C>G
g.7675139C>T
g.7675140G>A
g.7675140G>C
g.7675142A>T
g.7675143C>A
g.7675143C>T
g.7675145C>G
g.7675145C>T
g.7675146G>A
g.7675146_7675158del
g.7675148G>T
g.7675151C>A
g.7675152_7675164del
g.7675157G>A
g.7675157_7675158insG
g.7675157_7675159del
g.7675157del
g.7675158_7675159insN
g.7675158_7675194del
g.7675161G>A
g.7675161G>C
g.7675161G>T
g.7675162del
g.7675167_7675173del
g.7675173C>T
g.7675173del
g.7675174C>T
g.7675175C>T
g.7675181T>A
g.7675184A>G
g.7675185C>T
g.7675186_7675222del
g.7675189G>C
g.7675190C>T
g.7675191_7675192insGGTCT
g.7675199G>A
g.7675200C>A
g.7675200C>G
g.7675206G>A
g.7675210A>C
g.7675211A>T
g.7675214A>C
g.7675214A>G
g.7675217T>C
g.7675217_7675219del
g.7675218T>C
g.7675218T>G
g.7675220T>A
g.7675220T>C
g.7675223A>G
g.7675223A>T
g.7675224G>A
g.7675227_7675228delinsG
g.7675233A>G
g.7675233A>T
g.7675234G>C
g.7675235T>C
g.7675237C>T
g.7675237_7675238insN
g.7675238T>C
g.7675987_7675995del
g.7675989C>G
g.7675992A>G
g.7675992_7675993insN
g.7675993C>T
g.7675994C>A
g.7675994C>G
g.7675994C>T
g.7675994del
g.7675995G>A
g.7675995G>C
g.7675995G>T
g.7675996T>G
g.7675997G>T
g.7676003_7676004del
g.7676004_7676005ins31
g.7676008A>T
g.7676011T>A
g.7676013G>C
g.7676015T>A
g.7676028_7676030del
g.7676037A>G
g.7676038_7676039insNNNNNNN
g.7676039_7676040insNNNNNNN
g.7676040C>A
g.7676040C>G
g.7676040C>T
g.7676040_7676041insNNNNNNN
g.7676043A>G
g.7676043del
g.7676047C>T
g.7676048G>T
g.7676048_7676049insN
g.7676050A>G
g.7676051G>C
g.7676055C>A
g.7676056C>A
g.7676059G>A
g.7676060G>C
g.7676060G>T
g.7676071G>A
g.7676072_7676075del
g.7676076G>C
g.7676076del
g.7676078del
g.7676080C>T
g.7676081_7676083del
g.7676091_7676092del
g.7676095_7676096insC
g.7676097C>T
g.7676099_7676108del
g.7676100_7676103del
g.7676124G>A
g.7676127del
g.7676152_7676153insN
g.7676155_7676156insN
g.7676155del
g.7676158_7676159insN
g.7676167C>A
g.7676180delinsNNN
g.7676185C>A
g.7676199T>A
g.7676203C>A
g.7676215G>A
g.7676218del
g.7676219A>T
g.7676220A>G
g.7676224C>G
g.7676224del
g.7676227del
g.7676257G>A
g.7676262G>A
g.7676273C>T
g.7676283G>C
g.7676300A>T
g.7676304_7676351del
g.7676353_7676519del
g.7676387C>T
g.7676397_7676413del
g.7676398G>A
g.7676398del
g.7676400del
g.7676435G>T
g.7676443C>A
g.7676523del
g.7676532G>A
g.7676543del
g.7676564C>G
g.7679770T>A
g.7687376C>A
g.7687382C>G
g.?
g.?(del prom_ex1)
g.?(del)
g.?(del45kb)
g.?(large del)
i.e.: g.7675088C>T or 7675088C>T
Reference Sequence: GenBank NC_000017.11
Clear All
Type
A:T>C:G
A:T>G:C
A:T>T:A
G:C>A:T
G:C>A:T at CpG
G:C>C:G
G:C>T:A
complex
del
ins
Clear All
Add All
Description
A>C
A>G
A>T
C>A
C>G
C>T
G>A
G>C
G>T
GGTTTCCGTCTG>ATTCAG
T>A
T>C
T>G
del exon1
del exon1-10
del exon10-11
del exon2-10
del exon2-4
del exon2-9
del exon5
del exon5-9
del exon8
del prom-ex1
del1
del10
del1064
del11
del1182
del13
del15
del167
del17
del18
del1ins3
del2
del2356
del254ins3
del2991
del2ins1
del3
del37
del4
del45kb
del48
del7
del8
del8ins5
del9
del?
dup Promoter
dup exon4
ins1
ins2
ins3
ins31
ins4
ins5
ins6
ins7
large del
rearrangement/large del
Clear All
Add All
Struct-Function Motif
C-term
C-term/NLS
C-term/tetramerisation
L1/S/H2
L2/L3
N-term
N-term/Transactivation
N-term/Transactivation/NES
NDBL/beta-sheets
SH3-like/Pro-rich
Clear All
Add All
Exon/Intron
1-exon
1-intron
2-exon
2-intron
3-exon
3-intron
4-exon
4-intron
5'UTR
5-exon
5-intron
6-exon
6-intron
7-exon
7-intron
8-exon
8-intron
9-exon
9-intron
10-exon
10-intron
11-exon
e1-exon
e2-exon
e4-exon
e5-exon
e8-exon
e10-exon
Clear All
Add All
Effect
FS
intronic
large del
missense
nonsense
other
silent
splice
Clear All
Add All
Transactivation Class
functional
non-functional
partially functional
supertrans
SIFT Class
Damaging
Tolerated
Chromosome Positioning
hg19
hg38
Mutant Base (coding)
Any
A
C
G
T
Codon Number
Enter by Range
Codon No.
Start (≤)
to
(≤) End
Wild-Type Codon
Mutant Codon
Wild-Type Amino Acid
Mutant Amino Acid
Help Resources
p53 Coding Sequence
Genetic Code
Individual and Pedigree
Confirmed or Obligate Carriers Only
Cancer-Affected Individuals Only
Age at Diagnosis
Start
to
End
Sex
Female
Male
Family History
FH
LFL
LFS
Other
TP53_Chompret
noFH
Clear All
Add All
Mode of Inheritance
M
M&P
P
de novo
de novo, mosaic
inherited, NOS
Clear All
Add All
Family Case
1st degree relative
2nd degree relative
3rd degree relative
proband
twin
other
NA
Clear All
Add All
Country/Population
Afghanistan
Africa
Albania
Algeria
American Samoa
Americas
Angola
Anguilla
Antigua And Barbuda
Argentina
Armenia
Aruba
Asia
Australia
Australia/New Zealand
Austria
Azerbaijan
Bahamas
Bahrain
Bangladesh
Barbados
Belarus
Belgium
Belize
Benin
Bhutan
Bolivia
Bosnia And Herzegovina
Botswana
Brazil
Brunei Darussalam
Bulgaria
Burkina Faso
Burundi
Cambodia
Cameroon
Canada
Cape Verde
Caribbean
Cayman Islands
Central African Republic
Central America
Chad
Channel Islands
Chile
China
China, Hong-Kong
China, Macau
Chinese Taipei (Taiwan)
Colombia
Comoros
Congo
Cook Islands
Costa Rica
Cote D'ivoire
Croatia
Cuba
Cyprus
Czech Republic
Denmark
Djibouti
Dominica
East Timor
Eastern Africa
Eastern Asia
Eastern Europe
Ecuador
Egypt
El Salvador
Equatorial Guinea
Eritrea
Estonia
Ethiopia
Europe
Faeroe Islands
Falkland Islands
Fiji
Finland
France
France, Guadeloupe
France, La Reunion
France, Martinique
French Guyana
French Polynesia
Gabon
Gambia
Georgia
Germany
Ghana
Greece
Grenada
Guam
Guatemala
Guinea
Guinea-Bissau
Guyana
Haiti
Honduras
Hungary
Iceland
India
Indonesia
Iran
Iraq
Ireland
Isle of Man
Israel
Italy
Jamaica
Japan
Jordan
Kazakhstan
Kenya
Kiribati
Korea
Kuwait
Kyrgyzstan
Lao People's Democratic Republic
Latvia
Lebanon
Lesotho
Less developed regions
Liberia
Libya
Liechtenstein
Lithuania
Luxembourg
Macedonia
Madagascar
Malawi
Malaysia
Maldives
Mali
Malta
Marshall Islands
Mauritania
Mauritius
Melanesia
Mexico
Micronesia
Middle Africa
Moldova
Monaco
Mongolia
Montserrat
More developed regions
Morocco
Mozambique
Myanmar
Namibia
Nauru
Nepal
Netherlands Antilles
New Caledonia
New Zealand
Nicaragua
Niger
Nigeria
Northern Africa
Northern America
Northern Europe
Northern Mariana Islands
Norway
Oman
Pacific Islands
Pakistan
Palestinian Occupied Territory
Panama
Papua New Guinea
Paraguay
Peru
Philippines
Pitcairn Islands
Poland
Polynesia
Portugal
Puerto Rico
Qatar
Romania
Russia
Rwanda
Saint Lucia
Saint Vincent And The Grenadines
Samoa
Saudi Arabia
Senegal
Serbia
Seychelles
Sierra Leone
Singapore
Slovakia
Slovenia
Solomon Islands
Somalia
South Africa
South America
South Central Asia
South Eastern Asia
Southern Africa
Southern Europe
Spain
Sri Lanka
St. Christopher and Nevis
St. Helena
St. Pierre And Miquelon
Sudan
Suriname
Swaziland
Sweden
Switzerland
Syrian Arab Republic
Tajikistan
Tanzania
Thailand
The Netherlands
Togo
Tokelau
Tonga
Trinidad And Tobago
Tunisia
Turkey
Turkmenistan
Turks And Caicos Islands
Tuvalu
UK
USA
Uganda
Ukraine
United Arab Emirates
United Virgin Islands
Uruguay
Uzbekistan
Vanuatu
Venezuela
Vietnam
Wallis And Futuna Islands
Western Africa
Western Asia
Western Europe
Western Pacific
Western Sahara
Yemen
Yugoslavia
Zambia
Zimbabwe
Clear All
Add All
Reference
Reference
Clear All
Browse Reference
Show
5
10
25
entries
Search:
Author
Year
Title
Journal
PubMed
Abstract
Abe T;Blackford AL;Tamura K;Ford M;McCormick P;Chuidian M;Almario JA;Borges M;Lennon AM;Shin EJ;Klein AP;Hruban RH;Canto MI;Goggins M;
2019
Deleterious Germline Mutations Are a Risk Factor for Neoplastic Progression Among High-Risk Individuals Undergoing Pancreatic Surveillance
J Clin Oncol
30883245
Aceto GM;Awadelkarim KD;Di NM;Moscatello C;Pantalone MR;Verginelli F;Elwali NE;Mariani-Costantini R;
2019
Germline TP53 mutation spectrum in Sudanese premenopausal breast cancer patients: correlations with reproductive factors
Breast Cancer Res Treat
30796655
Achatz MI;
2011
IARC data
Unpublished
Achatz MI;Olivier M;Calvez FL;Martel-Planche G;Lopes A;Rossi BM;Ashton-Prolla P;Giugliani R;Palmero EI;Vargas FR;Rocha JC;Vettore AL;Hainaut P;
2007
The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families
Cancer Lett
16494995
Agarwalla PK;Dunn IF;Turner CD;Ligon KL;Schneider KA;Smith ER;
2008
A novel TP53 germline mutation in a family with a history of multiple malignancies: case report and review of the literature
Pediatr Neurosurg
19127094
Showing 1 to 5 of 454 entries
Previous
1
2
3
4
5
…
91
Next
Search
Reset
Loading...
Loading...
Loading...