Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_004870 | Disease | p.ALA102GLU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_010605 | Disease | p.ALA140PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004887 | Disease | p.ALA174PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004940 | Disease | p.ALA336SER | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004908 | Disease | p.ALA208THR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004909 | Disease | p.ALA209VAL | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004845 | Disease | p.ARG40CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004879 | Disease | p.ARG141GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004843 | Disease | p.ARG26GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004929 | Disease | p.ARG277GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004865 | Disease | p.ARG92GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004939 | Disease | p.ARG330GLY | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004876 | Disease | p.ARG129HIS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004846 | Disease | p.ARG40HIS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004938 | Disease | p.ARG320LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004878 | Disease | p.ARG141PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004867 | Disease | p.ARG94THR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004930 | Disease | p.ARG277TRP | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004852 | Disease | p.ASN47ILE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_010606 | Disease | p.ASN198LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004882 | Disease | p.ASN161SER | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004921 | Disease | p.ASP263ASN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004875 | Disease | p.ASP126GLY | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004920 | Disease | p.ASP263GLY | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004901 | Disease | p.ASP196TYR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004888 | Disease | p.ASP175VAL | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004900 | Disease | p.ASP196VAL | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004934 | Disease | p.CYS303ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004935 | Disease | p.CYS303TYR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004927 | Polymorphism | p.GLN270ARG | N/A |
Swiss-Prot | VAR_004911 | Disease | p.GLN216GLU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004892 | Disease | p.GLN180HIS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004893 | Disease | p.GLU181GLY | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_010610 | Disease | p.GLU326LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004862 | Disease | p.GLU87LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004883 | Disease | p.GLY162ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004897 | Disease | p.GLY188ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004899 | Disease | p.GLY195ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_009235 | Disease | p.GLY197ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004853 | Disease | p.GLY50ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004861 | Disease | p.GLY83ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004868 | Disease | p.GLY100ASP | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004860 | Disease | p.GLY83ASP | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004844 | Disease | p.GLY39CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004902 | Disease | p.GLY197GLU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004926 | Disease | p.GLY269GLU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004858 | Disease | p.GLY79GLU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_009234 | Disease | p.GLY188VAL | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004873 | Disease | p.HIS117ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004885 | Disease | p.HIS168ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004884 | Disease | p.HIS168GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004932 | Disease | p.HIS302GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004872 | Disease | p.HIS117LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004894 | Disease | p.HIS182LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004931 | Disease | p.HIS302LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004919 | Disease | p.HIS255PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004904 | Disease | p.HIS202TYR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_010607 | Disease | p.HIS214TYR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004933 | Disease | p.HIS302TYR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004886 | Disease | p.ILE172MET | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_009233 | Disease | p.ILE172PHE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012651 | Disease | p.ILE160SER | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004881 | Disease | p.ILE159THR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004917 | Disease | p.LEU244GLN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004880 | Disease | p.LEU148PHE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012652 | Disease | p.LEU191PHE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012654 | Disease | p.LEU301PHE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004936 | Disease | p.LEU304PHE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004847 | Polymorphism | p.LEU43PHE | N/A |
Swiss-Prot | VAR_004871 | Polymorphism | p.LEU111PRO | N/A |
Swiss-Prot | VAR_004903 | Disease | p.LEU201PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012657 | Disease | p.LEU341PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004849 | Disease | p.LEU45PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004857 | Disease | p.LEU63PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004877 | Disease | p.LEU139SER | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004850 | Disease | p.LEU45VAL | Ornithine carbamoyltransferase deficiency (OTCD) |
dbSNP | rs1800321 | Polymorphism | p.LYS46ARG | N/A |
Swiss-Prot | VAR_004863 | Disease | p.LYS88ASN | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004906 | Disease | p.MET206ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012653 | Disease | p.MET206ILE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004910 | Disease | p.MET213LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004925 | Disease | p.MET268THR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004855 | Disease | p.MET56THR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004948 | Disease | p.PHE354CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004869 | Polymorphism | p.PHE101LEU | N/A |
Swiss-Prot | VAR_004912 | Disease | p.PRO220ALA | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004914 | Disease | p.PRO225ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012655 | Disease | p.PRO305HIS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004913 | Disease | p.PRO225LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004915 | Disease | p.PRO225THR | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004898 | Disease | p.SER192ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004907 | Disease | p.SER207ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004924 | Disease | p.SER267ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004864 | Disease | p.SER90ARG | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004905 | Disease | p.SER203CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004856 | Disease | p.SER60LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004943 | Disease | p.SER340PRO | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004922 | Disease | p.THR264ALA | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_012656 | Polymorphism | p.THR333ALA | N/A |
Swiss-Prot | VAR_004866 | Disease | p.THR93ALA | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004916 | Disease | p.THR242ILE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004923 | Disease | p.THR264ILE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004848 | Disease | p.THR44ILE | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004918 | Disease | p.THR247LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_010608 | Disease | p.THR262LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004944 | Disease | p.THR343LYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004874 | Disease | p.THR125MET | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004890 | Disease | p.THR178MET | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_010609 | Disease | p.TRP265LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004896 | Disease | p.TYR183ASP | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004947 | Disease | p.TYR345ASP | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004854 | Disease | p.TYR55ASP | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004889 | Disease | p.TYR176CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004895 | Disease | p.TYR183CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004946 | Disease | p.TYR345CYS | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004941 | Disease | p.VAL337LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
Swiss-Prot | VAR_004942 | Disease | p.VAL339LEU | Ornithine carbamoyltransferase deficiency (OTCD) |
OMIM | 300461.0028 | Disease | p.ARG40CYS | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0002 | Disease | p.ARG109GLN | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0008 | Disease | p.ARG26GLN | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0025 | Disease | p.ARG129HIS | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0029 | Disease | p.ARG40HIS | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0003 | Disease | p.ARG109TER | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0022 | Disease | p.ARG62THR | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0010 | Disease | p.ARG245TRP | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0014 | Disease | p.ARG277TRP | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0005 | Disease | p.GLN216GLU | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0016 | Disease | p.GLU87LYS | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0006 | Disease | p.GLU154TER | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0018 | Disease | p.GLY162ARG | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0021 | Disease | p.GLY47GLU | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0017 | Disease | p.GLY50TER | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0026 | Disease | p.LEU148PHE | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0023 | Disease | p.LEU272PHE | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0004 | Disease | p.LEU111PRO | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0007 | Disease | p.LEU45PRO | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0027 | Disease | p.MET206ARG | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0015 | Disease | p.PRO225LEU | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |
OMIM | 300461.0024 | Disease | p.TYR313ASP | ORNITHINE TRANSCARBAMYLASE DEFICIENCY |