Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_009545 | Disease | p.ARG339CYS | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019039 | Disease | p.ARG272HIS | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_009543 | Disease | p.ARG272PRO | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019038 | Disease | p.ASP236TYR | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019040 | Disease | p.CYS291TYR | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_016935 | Disease | p.GLN286ARG | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019045 | Disease | p.GLN312ARG | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_009542 | Disease | p.GLN252LEU | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019046 | Disease | p.GLU319GLY | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019048 | Disease | p.GLU447GLY | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_016945 | Polymorphism | p.GLU401LYS | N/A |
Swiss-Prot | VAR_019037 | Disease | p.GLY139ARG | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019041 | Disease | p.GLY300ASP | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019042 | Disease | p.GLY300SER | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_009544 | Disease | p.GLY301SER | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019043 | Disease | p.GLY301VAL | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_027250 | Disease | p.HIS405ARG | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_027249 | Disease | p.HIS405ASN | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_016934 | Disease | p.HIS127PRO | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_016943 | Polymorphism | p.ILE153THR | N/A |
Swiss-Prot | VAR_016946 | Polymorphism | p.ILE453VAL | N/A |
Swiss-Prot | VAR_016936 | Disease | p.TRP429CYS | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_016933 | Disease | p.TRP39SER | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019044 | Disease | p.TYR304ASN | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_016944 | Disease | p.TYR340CYS | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_009546 | Disease | p.TYR347CYS | Periodontititis, aggressive, 1 (AP1) |
Swiss-Prot | VAR_019047 | Disease | p.TYR412CYS | Periodontititis, aggressive, 1 (AP1) |
Swiss-Prot | VAR_039686 | Disease | p.TYR294HIS | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_019036 | Disease | p.VAL129GLU | Papillon-Lefevre syndrome (PLS) |
Swiss-Prot | VAR_009541 | Disease | p.VAL249PHE | Papillon-Lefevre syndrome (PLS) |