Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_020176 | Polymorphism | p.ALA152THR | N/A |
Swiss-Prot | VAR_065445 | Disease | p.ARG366CYS | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065440 | Disease | p.ARG327TRP | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065439 | Disease | p.ASP322ASN | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065449 | Disease | p.CYS404ARG | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065448 | Disease | p.CYS390PHE | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065435 | Disease | p.CYS149TYR | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065436 | Disease | p.CYS151TYR | Factor X deficiency (FA10D) |
dbSNP | rs5961 | Polymorphism | p.GLN30HIS | N/A |
Swiss-Prot | VAR_065432 | Disease | p.GLU72GLN | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065428 | Disease | p.GLU47GLY | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065430 | Disease | p.GLU54GLY | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065434 | Polymorphism | p.GLU142LYS | N/A |
Swiss-Prot | VAR_065438 | Disease | p.GLU304LYS | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065442 | Disease | p.GLU350LYS | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065431 | Disease | p.GLU54LYS | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065433 | Disease | p.GLU91LYS | Factor X deficiency (FA10D) |
dbSNP | rs3211783 | Polymorphism | p.GLY192ARG | N/A |
Swiss-Prot | VAR_065437 | Disease | p.GLY289ARG | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065451 | Disease | p.GLY420ARG | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065444 | Disease | p.GLY363SER | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065450 | Disease | p.GLY406SER | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065429 | Disease | p.GLY51VAL | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_014162 | Polymorphism | p.LEU7ILE | N/A |
Swiss-Prot | VAR_065452 | Disease | p.LYS448ASN | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065447 | Disease | p.PRO383SER | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065446 | Disease | p.SER374PRO | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065443 | Disease | p.THR358MET | Factor X deficiency (FA10D) |
Swiss-Prot | VAR_065441 | Disease | p.VAL338MET | Factor X deficiency (FA10D) |
OMIM | 613872.0001 | Disease | p.ARG366CYS | FACTOR X DEFICIENCY |
OMIM | 613872.0014 | Disease | p.ARG287TRP | FACTOR X DEFICIENCY |
OMIM | 613872.0008 | Disease | p.ASP282ASN | FACTOR X DEFICIENCY |
OMIM | 613872.0011 | Disease | p.GLU32GLN | FACTOR X DEFICIENCY |
OMIM | 613872.0010 | Disease | p.GLU14GLY | FACTOR X DEFICIENCY |
OMIM | 613872.0009 | Disease | p.GLU7GLY | FACTOR X DEFICIENCY |
OMIM | 613872.0007 | Disease | p.GLU102LYS | FACTOR X DEFICIENCY |
OMIM | 613872.0003 | Disease | p.GLU14LYS | FACTOR X DEFICIENCY |
OMIM | 613872.0012 | Disease | p.GLY249ARG | FACTOR X DEFICIENCY, AUTOSOMAL DOMINANT |
OMIM | 613872.0004 | Disease | p.PRO343SER | FACTOR X DEFICIENCY |
OMIM | 613872.0006 | Disease | p.SER334PRO | FACTOR X DEFICIENCY |
OMIM | 613872.0015 | Disease | p.THR318MET | FACTOR X DEFICIENCY |
OMIM | 613872.0013 | Disease | p.VAL298MET | FACTOR X DEFICIENCY |