Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_046253 | Disease | p.ALA65PRO | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005243 | Disease | p.ALA124THR | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046270 | Disease | p.ALA241THR | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005251 | Disease | p.ARG295CYS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005239 | Disease | p.ARG83CYS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046261 | Disease | p.ARG170GLN | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005240 | Disease | p.ARG83HIS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005241 | Disease | p.ARG83ILE | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046272 | Disease | p.ASN264LYS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005237 | Disease | p.ASP38VAL | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_009202 | Disease | p.GLN20ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_009203 | Disease | p.GLN54PRO | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005242 | Disease | p.GLU110LYS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005246 | Disease | p.GLY188ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005248 | Disease | p.GLY222ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046274 | Disease | p.GLY270ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046254 | Disease | p.GLY68ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_009204 | Disease | p.GLY81ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046259 | Disease | p.GLY122ASP | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_009207 | Disease | p.GLY188ASP | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005245 | Disease | p.GLY184GLU | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046266 | Disease | p.GLY188SER | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046275 | Disease | p.GLY270TRP | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046265 | Disease | p.GLY184VAL | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005249 | Disease | p.GLY266VAL | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005250 | Disease | p.GLY270VAL | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046258 | Disease | p.HIS119LEU | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046264 | Disease | p.HIS179PRO | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005254 | Disease | p.ILE341ASN | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046278 | Disease | p.LEU345ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005247 | Disease | p.LEU211PRO | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046273 | Disease | p.LEU265PRO | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046255 | Disease | p.LYS76ASN | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046249 | Disease | p.MET5ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046262 | Disease | p.PHE177CYS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046277 | Disease | p.PHE322LEU | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_065164 | Disease | p.PRO178ALA | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046257 | Disease | p.PRO113LEU | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_035922 | Polymorphism | p.PRO116LEU | N/A |
Swiss-Prot | VAR_046271 | Disease | p.PRO257LEU | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046263 | Disease | p.PRO178SER | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046276 | Disease | p.SER298PRO | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046250 | Disease | p.THR16ALA | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046251 | Disease | p.THR16ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_009205 | Disease | p.THR108ILE | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046256 | Disease | p.THR111ILE | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_065165 | Disease | p.THR255ILE | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046269 | Disease | p.TRP236ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046252 | Disease | p.TRP63ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005238 | Disease | p.TRP77ARG | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_009206 | Disease | p.TRP156LEU | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046268 | Disease | p.TYR209CYS | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_046260 | Disease | p.VAL166ALA | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005244 | Disease | p.VAL166GLY | Glycogen storage disease 1A (GSD1A) |
Swiss-Prot | VAR_005253 | Disease | p.VAL338PHE | Glycogen storage disease 1A (GSD1A) |