Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_043798 | Polymorphism | p.ALA131THR | N/A |
Swiss-Prot | VAR_007745 | Disease | p.ARG366CYS | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_015053 | Disease | p.ARG312GLN | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_015061 | Disease | p.ARG394GLN | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_007746 | Disease | p.ARG366HIS | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_043802 | Disease | p.ARG366LEU | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043807 | Disease | p.ARG394LEU | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_043808 | Disease | p.ARG394PRO | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_007750 | Disease | p.ARG394TRP | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_007751 | Disease | p.ASP396ASN | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_007752 | Disease | p.ASP396GLY | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043809 | Disease | p.ASP396TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_015058 | Disease | p.CYS385ARG | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043805 | Disease | p.CYS388ARG | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_043799 | Disease | p.CYS355GLY | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_007744 | Disease | p.CYS360GLY | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_015059 | Disease | p.CYS388PHE | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_007743 | Disease | p.CYS330TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_015055 | Disease | p.CYS355TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043800 | Disease | p.CYS360TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043806 | Disease | p.CYS388TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043803 | Disease | p.GLN369PRO | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_007741 | Disease | p.GLY253ALA | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_043804 | Disease | p.GLY379CYS | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_015057 | Disease | p.HIS377ARG | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043812 | Disease | p.HIS405ARG | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_007747 | Disease | p.HIS373GLN | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_043810 | Disease | p.HIS397PRO | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_015056 | Disease | p.HIS373TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_007748 | Disease | p.HIS377TYR | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_043811 | Disease | p.HIS401TYR | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_058021 | Polymorphism | p.LEU281PRO | N/A |
Swiss-Prot | VAR_015062 | Disease | p.LEU398PRO | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_015054 | Disease | p.MET342ARG | Denys-Drash syndrome (DDS) |
Swiss-Prot | VAR_043801 | Disease | p.PHE364LEU | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_007749 | Disease | p.PHE383LEU | Nephrotic syndrome 4 (NPHS4) |
Swiss-Prot | VAR_015060 | Disease | p.PHE392LEU | Frasier syndrome (FS) |
Swiss-Prot | VAR_007739 | Disease | p.PRO181SER | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_007740 | Disease | p.SER223ASN | Wilms tumor 1 (WT1) |
Swiss-Prot | VAR_007742 | Polymorphism | p.SER273GLY | N/A |