Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_068951 | Disease | p.ALA955ASP | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068942 | Disease | p.ASN773SER | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068938 | Disease | p.ASP220ASN | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068943 | Disease | p.ASP801ASN | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068949 | Disease | p.ASP923ASN | Dystonia 12 (DYT12) |
Swiss-Prot | VAR_026740 | Disease | p.ASP801TYR | Dystonia 12 (DYT12) |
Swiss-Prot | VAR_068952 | Disease | p.ASP992TYR | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068940 | Disease | p.CYS333PHE | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068937 | Disease | p.GLN140LEU | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_026736 | Disease | p.GLU277LYS | Dystonia 12 (DYT12) |
Swiss-Prot | VAR_068947 | Disease | p.GLU815LYS | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068950 | Disease | p.GLY947ARG | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068941 | Disease | p.GLY755SER | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068939 | Disease | p.ILE274ASN | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_026738 | Disease | p.ILE758SER | Dystonia 12 (DYT12) |
Swiss-Prot | VAR_068945 | Disease | p.ILE810SER | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_026735 | Disease | p.ILE274THR | Dystonia 12 (DYT12) |
Swiss-Prot | VAR_068944 | Disease | p.MET806ARG | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_026739 | Disease | p.PHE780LEU | Dystonia 12 (DYT12) |
Swiss-Prot | VAR_068935 | Disease | p.SER137PHE | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068946 | Disease | p.SER811PRO | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_068936 | Disease | p.SER137TYR | Alternating hemiplegia of childhood 2 (AHC2) |
Swiss-Prot | VAR_026737 | Disease | p.THR613MET | Dystonia 12 (DYT12) |
OMIM | 182350.0009 | Disease | p.ASP788ASN | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 |
OMIM | 182350.0007 | Disease | p.ASP910ASN | DYSTONIA 12 |
OMIM | 182350.0006 | Disease | p.ASP788TYR | DYSTONIA 12 |
OMIM | 182350.0003 | Disease | p.GLU264LYS | DYSTONIA 12 |
OMIM | 182350.0010 | Disease | p.GLU802LYS | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 |
OMIM | 182350.0012 | Disease | p.GLY934ARG | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 |
OMIM | 182350.0004 | Disease | p.ILE745SER | DYSTONIA 12 |
OMIM | 182350.0002 | Disease | p.ILE261THR | DYSTONIA 12 |
OMIM | 182350.0005 | Disease | p.PHE767LEU | DYSTONIA 12 |
OMIM | 182350.0011 | Disease | p.SER798PRO | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 |
OMIM | 182350.0001 | Disease | p.THR600MET | DYSTONIA 12 |