Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_054113 | Disease | p.ALA51PRO | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010766 | Disease | p.ARG545CYS | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010764 | Disease | p.ARG269GLN | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010763 | Disease | p.ARG138HIS | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_054118 | Disease | p.ARG545HIS | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010759 | Disease | p.ARG15SER | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010767 | Disease | p.CYS570TYR | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010757 | Disease | p.GLU486LYS | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_015681 | Disease | p.GLY368ARG | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_054117 | Disease | p.GLY474ARG | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_015680 | Disease | p.ILE86PHE | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_015560 | Disease | p.ILE423THR | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010765 | Disease | p.LEU309ARG | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_054116 | Disease | p.PRO315LEU | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010760 | Disease | p.SER52GLY | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010761 | Disease | p.SER79LEU | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_054114 | Disease | p.TYR89CYS | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_054115 | Disease | p.VAL195PHE | Giant axonal neuropathy (GAN) |
Swiss-Prot | VAR_010762 | Disease | p.VAL82PHE | Giant axonal neuropathy (GAN) |
OMIM | 605379.0006 | Disease | p.ARG138HIS | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0007 | Disease | p.ARG15SER | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0004 | Disease | p.ARG201TER | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0008 | Disease | p.ARG477TER | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0002 | Disease | p.GLN483TER | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0009 | Disease | p.GLU169LYS | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0001 | Disease | p.GLU486LYS | GIANT AXONAL NEUROPATHY 1 |
OMIM | 605379.0005 | Disease | p.ILE423THR | GIANT AXONAL NEUROPATHY 1 |