Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_006180 | Disease | p.ARG186CYS | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_006181 | Disease | p.ARG186HIS | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_012272 | Disease | p.ARG295HIS | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_062396 | Disease | p.ARG916TRP | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_006183 | Disease | p.ASP299GLY | Glycogen storage disease 9A (GSD9A) |
dbSNP | rs17313469 | Polymorphism | p.GLU38GLN | N/A |
Swiss-Prot | VAR_012276 | Disease | p.GLU1125LYS | Glycogen storage disease 9A (GSD9A) |
dbSNP | rs16980929 | Polymorphism | p.GLY416ARG | N/A |
Swiss-Prot | VAR_012277 | Disease | p.GLY1207TRP | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_012271 | Disease | p.GLY193VAL | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_006177 | Disease | p.HIS132PRO | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_006178 | Disease | p.HIS132TYR | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_012269 | Disease | p.LYS189GLU | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_062398 | Disease | p.MET1113ILE | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_062395 | Disease | p.PRO869ARG | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_006186 | Disease | p.PRO1205LEU | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_062394 | Disease | p.PRO498LEU | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_012273 | Disease | p.PRO399SER | Glycogen storage disease 9A (GSD9A) |
Swiss-Prot | VAR_006185 | Disease | p.THR1114ILE | Glycogen storage disease 9A (GSD9A) |
OMIM | 300798.0012 | Disease | p.ARG556CYS | GLYCOGEN STORAGE DISEASE, TYPE IXa2 |
OMIM | 300798.0008 | Disease | p.ARG186HIS | GLYCOGEN STORAGE DISEASE, TYPE IXa2 |
OMIM | 300798.0007 | Disease | p.ASP299GLY | GLYCOGEN STORAGE DISEASE, TYPE IXa1 |
OMIM | 300798.0001 | Disease | p.GLN1009TER | GLYCOGEN STORAGE DISEASE, TYPE IXa1 |
OMIM | 300798.0002 | Disease | p.GLN766TER | GLYCOGEN STORAGE DISEASE, TYPE IXa1 |
OMIM | 300798.0009 | Disease | p.HIS132PRO | GLYCOGEN STORAGE DISEASE, TYPE IXa2 |
OMIM | 300798.0010 | Disease | p.HIS132TYR | GLYCOGEN STORAGE DISEASE, TYPE IXa2 |
OMIM | 300798.0015 | Disease | p.LYS189GLU | GLYCOGEN STORAGE DISEASE, TYPE IXa2 |
OMIM | 300798.0005 | Disease | p.PRO1205LEU | GLYCOGEN STORAGE DISEASE, TYPE IXa1 |
OMIM | 300798.0004 | Disease | p.SER1049TER | GLYCOGEN STORAGE DISEASE, TYPE IXa1 |
OMIM | 300798.0011 | Disease | p.THR1114ILE | GLYCOGEN STORAGE DISEASE, TYPE IXa2 |