Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_026312 | Disease | p.ALA155PRO | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013188 | Disease | p.ALA127THR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026297 | Disease | p.ALA31VAL | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013192 | Disease | p.ARG184CYS | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026337 | Polymorphism | p.ARG1213GLN | N/A |
Swiss-Prot | VAR_026329 | Disease | p.ARG889GLN | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026335 | Disease | p.ARG937GLN | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013193 | Disease | p.ARG184GLY | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026319 | Disease | p.ARG252GLY | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013194 | Disease | p.ARG184HIS | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013195 | Disease | p.ARG184LEU | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026316 | Polymorphism | p.ARG203LYS | N/A |
Swiss-Prot | VAR_026327 | Polymorphism | p.ARG818LYS | N/A |
Swiss-Prot | VAR_026304 | Polymorphism | p.ASN53ASP | N/A |
Swiss-Prot | VAR_026323 | Disease | p.ASN504SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026322 | Disease | p.CYS271ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013206 | Disease | p.CYS740ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013207 | Disease | p.CYS753ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026308 | Disease | p.CYS92ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013198 | Disease | p.CYS229GLY | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013197 | Disease | p.CYS220PHE | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013201 | Disease | p.CYS284PHE | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013204 | Disease | p.CYS438PHE | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013196 | Disease | p.CYS187SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013205 | Disease | p.CYS731SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026307 | Disease | p.CYS78SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026330 | Disease | p.CYS902SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026315 | Disease | p.CYS187TYR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013199 | Disease | p.CYS229TYR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026318 | Polymorphism | p.CYS234TYR | N/A |
Swiss-Prot | VAR_026325 | Disease | p.CYS693TYR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026326 | Disease | p.CYS714TYR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026332 | Disease | p.CYS911TYR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026309 | Disease | p.CYS92TYR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013203 | Disease | p.GLY386ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013200 | Disease | p.GLY274ASP | Tetralogy of Fallot (TOF) |
Swiss-Prot | VAR_026298 | Disease | p.GLY33ASP | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026320 | Disease | p.GLY256SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026299 | Disease | p.GLY33SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026300 | Disease | p.GLY33VAL | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026331 | Polymorphism | p.HIS908GLN | N/A |
Swiss-Prot | VAR_026310 | Disease | p.ILE120ASN | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026301 | Disease | p.ILE39SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013190 | Disease | p.ILE152THR | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013187 | Disease | p.LEU79HIS | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026302 | Disease | p.LEU40PRO | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026334 | Polymorphism | p.LEU921PRO | N/A |
Swiss-Prot | VAR_013186 | Disease | p.LEU37SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026305 | Polymorphism | p.LYS65MET | N/A |
Swiss-Prot | VAR_026306 | Disease | p.PHE75SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013189 | Disease | p.PRO129ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026313 | Disease | p.PRO163ARG | Alagille syndrome 1 (ALGS1) |
dbSNP | rs35761929 | Polymorphism | p.PRO871ARG | N/A |
Swiss-Prot | VAR_013191 | Disease | p.PRO163LEU | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026321 | Disease | p.PRO269LEU | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026311 | Disease | p.PRO123SER | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026333 | Disease | p.SER913ARG | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026317 | Disease | p.TRP224CYS | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_013202 | Disease | p.TRP288CYS | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026314 | Disease | p.TYR181ASN | Alagille syndrome 1 (ALGS1) |
Swiss-Prot | VAR_026324 | Polymorphism | p.TYR690ASP | N/A |
dbSNP | rs6040067 | Polymorphism | p.VAL146ILE | N/A |
Swiss-Prot | VAR_026303 | Polymorphism | p.VAL45LEU | N/A |
OMIM | 601920.0005 | Disease | p.ARG184CYS | ALAGILLE SYNDROME 1 |
OMIM | 601920.0006 | Disease | p.ARG184HIS | ALAGILLE SYNDROME 1 |
OMIM | 601920.0012 | Disease | p.CYS234TYR | DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON |
OMIM | 601920.0010 | Disease | p.GLY274ASP | TETRALOGY OF FALLOT |
OMIM | 601920.0011 | Disease | p.LEU37SER | ALAGILLE SYNDROME 1 |