Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_044288 | Disease | p.ALA319CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
dbSNP | rs35769976 | Polymorphism | p.ALA1020PRO | N/A |
dbSNP | rs1044009 | Polymorphism | p.ALA2223VAL | N/A |
Swiss-Prot | VAR_012895 | Disease | p.ARG1006CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012896 | Disease | p.ARG1031CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012874 | Disease | p.ARG110CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012899 | Disease | p.ARG1231CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012876 | Disease | p.ARG133CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012877 | Disease | p.ARG141CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012879 | Disease | p.ARG153CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012880 | Disease | p.ARG169CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012883 | Disease | p.ARG182CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044278 | Disease | p.ARG207CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044289 | Disease | p.ARG332CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044295 | Disease | p.ARG421CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044301 | Disease | p.ARG449CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044232 | Disease | p.ARG54CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044307 | Disease | p.ARG544CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012891 | Disease | p.ARG558CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012892 | Disease | p.ARG578CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044309 | Disease | p.ARG607CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012893 | Disease | p.ARG728CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012873 | Disease | p.ARG90CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012894 | Disease | p.ARG985CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044279 | Disease | p.ARG213LYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044316 | Disease | p.ASP1063CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044313 | Disease | p.CYS1015ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012900 | Disease | p.CYS1261ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012878 | Disease | p.CYS146ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044264 | Disease | p.CYS174ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044268 | Disease | p.CYS183ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012884 | Disease | p.CYS185ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044273 | Disease | p.CYS194ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044285 | Disease | p.CYS245ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044286 | Disease | p.CYS251ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044293 | Disease | p.CYS395ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044299 | Disease | p.CYS440ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044302 | Disease | p.CYS455ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044306 | Disease | p.CYS511ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044236 | Disease | p.CYS76ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044240 | Disease | p.CYS87ARG | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044270 | Disease | p.CYS185GLY | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012886 | Disease | p.CYS222GLY | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044230 | Disease | p.CYS43GLY | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044298 | Disease | p.CYS440GLY | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044247 | Disease | p.CYS117PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044249 | Disease | p.CYS123PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044254 | Disease | p.CYS144PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044263 | Disease | p.CYS174PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044267 | Disease | p.CYS183PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044272 | Disease | p.CYS194PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044303 | Disease | p.CYS484PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044231 | Disease | p.CYS49PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044242 | Disease | p.CYS93PHE | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044255 | Disease | p.CYS144SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044261 | Disease | p.CYS155SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044262 | Disease | p.CYS162SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044269 | Disease | p.CYS183SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044274 | Disease | p.CYS194SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012885 | Disease | p.CYS212SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044281 | Disease | p.CYS233SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044284 | Disease | p.CYS240SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044292 | Disease | p.CYS379SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044296 | Disease | p.CYS428SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044300 | Disease | p.CYS446SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044234 | Disease | p.CYS65SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044310 | Disease | p.CYS775SER | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044244 | Disease | p.CYS106TRP | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044245 | Disease | p.CYS108TRP | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044252 | Disease | p.CYS134TRP | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044237 | Disease | p.CYS76TRP | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044246 | Disease | p.CYS108TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044250 | Disease | p.CYS123TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044317 | Disease | p.CYS1261TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044251 | Disease | p.CYS128TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044256 | Disease | p.CYS144TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044265 | Disease | p.CYS174TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044275 | Disease | p.CYS194TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044276 | Disease | p.CYS201TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044277 | Disease | p.CYS206TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044280 | Disease | p.CYS222TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012887 | Disease | p.CYS224TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044282 | Disease | p.CYS233TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044287 | Disease | p.CYS260TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044297 | Disease | p.CYS428TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044304 | Disease | p.CYS484TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012871 | Disease | p.CYS49TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044305 | Disease | p.CYS495TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012890 | Disease | p.CYS542TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044308 | Disease | p.CYS549TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044235 | Disease | p.CYS67TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044241 | Disease | p.CYS87TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044243 | Disease | p.CYS93TYR | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044258 | Disease | p.GLY149CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012882 | Disease | p.GLY171CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044294 | Disease | p.GLY420CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044311 | Disease | p.GLY953CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012881 | Polymorphism | p.HIS170ARG | N/A |
Swiss-Prot | VAR_012897 | Polymorphism | p.HIS1133GLN | N/A |
Swiss-Prot | VAR_044318 | Polymorphism | p.LEU1515PRO | N/A |
Swiss-Prot | VAR_069927 | Disease | p.LEU1519PRO | Myofibromatosis, infantile 2 (IMF2) |
Swiss-Prot | VAR_044253 | Disease | p.PHE142CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044312 | Disease | p.PHE984CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
dbSNP | rs114447350 | Polymorphism | p.PRO2074LEU | N/A |
Swiss-Prot | VAR_012889 | Polymorphism | p.PRO496LEU | N/A |
Swiss-Prot | VAR_044248 | Disease | p.SER118CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044257 | Disease | p.SER145CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044266 | Disease | p.SER180CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044290 | Disease | p.SER335CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044233 | Disease | p.SER60CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012872 | Disease | p.TRP71CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044315 | Disease | p.TYR1021CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044259 | Disease | p.TYR150CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044271 | Disease | p.TYR189CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_012888 | Disease | p.TYR258CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
Swiss-Prot | VAR_044291 | Disease | p.TYR337CYS | Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal dominant (CADASIL) |
dbSNP | rs10408676 | Polymorphism | p.VAL1183MET | N/A |
OMIM | 600276.0010 | Disease | p.ALA1020PRO | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0008 | Disease | p.ARG133CYS | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0002 | Disease | p.ARG169CYS | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0003 | Disease | p.ARG182CYS | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0007 | Disease | p.ARG332CYS | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0006 | Disease | p.CYS455ARG | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0011 | Disease | p.CYS428SER | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |
OMIM | 600276.0012 | Disease | p.LEU1519PRO | MYOFIBROMATOSIS, INFANTILE, 2 (1 family) |
OMIM | 600276.0001 | Disease | p.TRP71CYS | CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS||AND LEUKOENCEPHALOPATHY |