Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_032015 | Disease | p.ARG1007CYS | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_064610 | Disease | p.ARG907GLN | Congenital indifference to pain autosomal recessive (CIPAR) |
Swiss-Prot | VAR_064600 | Disease | p.ASN395LYS | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_064604 | Disease | p.ASN641TYR | Generalized epilepsy with febrile seizures plus 7 (GEFS+7) |
Swiss-Prot | VAR_019950 | Polymorphism | p.ASP1919GLY | N/A |
Swiss-Prot | VAR_064607 | Polymorphism | p.CYS710TYR | N/A |
Swiss-Prot | VAR_064595 | Disease | p.GLN10ARG | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_064612 | Polymorphism | p.GLU1171GLN | N/A |
Swiss-Prot | VAR_064601 | Disease | p.GLU406LYS | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_064603 | Polymorphism | p.GLU519LYS | N/A |
Swiss-Prot | VAR_064599 | Polymorphism | p.ILE228MET | N/A |
Swiss-Prot | VAR_064606 | Polymorphism | p.ILE695MET | N/A |
Swiss-Prot | VAR_032020 | Disease | p.ILE1472THR | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_019947 | Disease | p.ILE859THR | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_064596 | Disease | p.ILE62VAL | Febrile seizures, familial, 3B (FEB3B) |
Swiss-Prot | VAR_064608 | Polymorphism | p.ILE750VAL | N/A |
Swiss-Prot | VAR_019948 | Disease | p.LEU869HIS | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_064611 | Polymorphism | p.LEU1134PHE | N/A |
Swiss-Prot | VAR_064609 | Disease | p.LEU869PHE | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_064613 | Polymorphism | p.LEU1278VAL | N/A |
Swiss-Prot | VAR_064605 | Disease | p.LYS666ARG | Generalized epilepsy with febrile seizures plus 7 (GEFS+7) |
Swiss-Prot | VAR_030444 | Polymorphism | p.MET932LEU | N/A |
Swiss-Prot | VAR_055646 | Polymorphism | p.MET943LEU | N/A |
Swiss-Prot | VAR_032023 | Disease | p.MET1638LYS | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_064598 | Disease | p.PHE216SER | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_032019 | Disease | p.PHE1460VAL | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_032021 | Disease | p.PHE1473VAL | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_064597 | Disease | p.PRO149GLN | Febrile seizures, familial, 3B (FEB3B) |
Swiss-Prot | VAR_064602 | Polymorphism | p.SER490ASN | N/A |
Swiss-Prot | VAR_032014 | Disease | p.SER241THR | Primary erythermalgia (PERYTHM) |
Swiss-Prot | VAR_032022 | Disease | p.THR1475ILE | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_019949 | Polymorphism | p.TRP1161ARG | N/A |
Swiss-Prot | VAR_032016 | Disease | p.VAL1309ASP | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_032017 | Disease | p.VAL1309PHE | Paroxysmal extreme pain disorder (PEPD) |
Swiss-Prot | VAR_032018 | Disease | p.VAL1310PHE | Paroxysmal extreme pain disorder (PEPD) |