Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_041462 | Polymorphism | p.ALA107VAL | N/A |
Swiss-Prot | VAR_041467 | Polymorphism | p.ARG452CYS | N/A |
Swiss-Prot | VAR_009631 | Disease | p.ARG654CYS | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_041466 | Polymorphism | p.ARG444GLN | N/A |
Swiss-Prot | VAR_009636 | Polymorphism | p.ARG780GLN | N/A |
Swiss-Prot | VAR_041465 | Polymorphism | p.ARG260GLY | N/A |
Swiss-Prot | VAR_009635 | Disease | p.ARG780PRO | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_009623 | Polymorphism | p.ARG85SER | N/A |
Swiss-Prot | VAR_068480 | Polymorphism | p.ARG6TRP | N/A |
Swiss-Prot | VAR_009630 | Disease | p.ARG649TRP | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_009632 | Polymorphism | p.ASP674TYR | N/A |
Swiss-Prot | VAR_041461 | Polymorphism | p.GLN80ARG | N/A |
Swiss-Prot | VAR_068482 | Disease | p.GLU492LYS | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_009626 | Disease | p.GLY522ARG | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_004103 | Disease | p.GLY577ARG | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_049714 | Polymorphism | p.GLY18GLU | N/A |
Swiss-Prot | VAR_009634 | Disease | p.GLY714SER | Congenital insensitivity to pain with anhidrosis (CIPA) |
dbSNP | rs6339 | Polymorphism | p.GLY613VAL | N/A |
dbSNP | rs6336 | Polymorphism | p.HIS604TYR | N/A |
Swiss-Prot | VAR_009625 | Disease | p.LEU213PRO | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_009624 | Disease | p.LEU93PRO | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_041468 | Polymorphism | p.MET566THR | N/A |
Swiss-Prot | VAR_009627 | Disease | p.MET587VAL | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_009633 | Disease | p.PRO695LEU | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_041463 | Polymorphism | p.THR237MET | N/A |
Swiss-Prot | VAR_068481 | Disease | p.TYR359CYS | Congenital insensitivity to pain with anhidrosis (CIPA) |
Swiss-Prot | VAR_041464 | Polymorphism | p.VAL238GLY | N/A |
Swiss-Prot | VAR_041469 | Polymorphism | p.VAL790ILE | N/A |
OMIM | 191315.0004 | Disease | p.ARG774PRO | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
OMIM | 191315.0003 | Disease | p.GLY571ARG | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
OMIM | 191315.0013 | Disease | p.MET581VAL | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
OMIM | 191315.0011 | Disease | p.PRO689LEU | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
OMIM | 191315.0012 | Disease | p.TYR359CYS | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS |
OMIM | 191315.0008 | Disease | p.TYR604HIS | THYROID CARCINOMA, FAMILIAL MEDULLARY |
OMIM | 191315.0009 | Disease | p.VAL613GLY | THYROID CARCINOMA, FAMILIAL MEDULLARY |