Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_040032 | Disease | p.ALA356ASP | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040026 | Disease | p.ALA229THR | Butyrylcholinesterase deficiency (BChE deficiency) |
dbSNP | rs1803274 | Polymorphism | p.ALA567THR | N/A |
Swiss-Prot | VAR_002364 | Disease | p.ALA567THR | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040025 | Disease | p.ALA227VAL | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040034 | Disease | p.ARG414CYS | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040041 | Disease | p.ARG543CYS | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040017 | Disease | p.ASN124TYR | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040023 | Disease | p.ASP198GLU | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_002360 | Disease | p.ASP98GLY | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040016 | Disease | p.ASP98HIS | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040042 | Disease | p.GLN546LEU | Butyrylcholinesterase deficiency (BChE deficiency) |
dbSNP | rs16849700 | Polymorphism | p.GLU283ASP | N/A |
Swiss-Prot | VAR_040037 | Disease | p.GLU488LYS | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040040 | Disease | p.GLU525VAL | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040033 | Disease | p.GLY393ARG | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040019 | Disease | p.GLY143ASP | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040035 | Disease | p.GLY418VAL | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_002362 | Disease | p.LEU358ILE | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040020 | Disease | p.LEU153PHE | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040031 | Disease | p.LEU335PRO | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040030 | Disease | p.LYS295ARG | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040013 | Disease | p.PHE56ILE | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040039 | Disease | p.PHE502LEU | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040036 | Disease | p.PHE446SER | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040018 | Disease | p.PRO128SER | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040015 | Disease | p.PRO65SER | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040024 | Disease | p.SER226GLY | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040027 | Disease | p.THR271MET | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040012 | Disease | p.THR52MET | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040028 | Disease | p.THR278PRO | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040038 | Disease | p.TRP499ARG | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040021 | Disease | p.TYR156CYS | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040014 | Disease | p.TYR61CYS | Butyrylcholinesterase deficiency (BChE deficiency) |
Swiss-Prot | VAR_040022 | Disease | p.VAL170MET | Butyrylcholinesterase deficiency (BChE deficiency) |
OMIM | 177400.0005 | Polymorphism | p.ALA539THR | BCHE, K VARIANT||BCHE, QUANTITATIVE K POLYMORPHISM;;||CHE*539T;;||BCHE*539T |
OMIM | 177400.0001 | Disease | p.ASP70GLY | APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1||BCHE, DIBUCAINE-RESISTANT I;;||CHE*70G;;||BCHE*70G |
OMIM | 177400.0006 | Disease | p.GLU497VAL | BCHE, J VARIANT||BCHE, QUANTITATIVE J VARIANT |
OMIM | 177400.0004 | Disease | p.GLY390VAL | BCHE, FLUORIDE 2||BCHE, FLUORIDE-RESISTANT II;;||CHE*390V;;||BCHE*390V |
OMIM | 177400.0012 | Disease | p.LEU330ILE | BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE |
OMIM | 177400.0014 | Disease | p.LEU335PRO | BUTYRYLCHOLINESTERASE DEFICIENCY |
OMIM | 177400.0003 | Disease | p.THR243MET | BCHE, FLUORIDE 1||BCHE, FLUORIDE-RESISTANT I;;||CHE*243M;;||BCHE*243M |
OMIM | 177400.0013 | Disease | p.TYR128CYS | BUTYRYLCHOLINESTERASE DEFICIENCY |
OMIM | 177400.0007 | Disease | p.VAL142MET | BCHE, H VARIANT||BCHE, QUANTITATIVE H VARIANT |