Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_004255 | Disease | p.ALA117THR | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039029 | Polymorphism | p.ALA165THR | N/A |
Swiss-Prot | VAR_039026 | Disease | p.ARG123CYS | Fish-eye disease (FED) |
Swiss-Prot | VAR_039028 | Disease | p.ARG164CYS | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004261 | Polymorphism | p.ARG182CYS | N/A |
Swiss-Prot | VAR_066865 | Polymorphism | p.ARG268CYS | N/A |
Swiss-Prot | VAR_066866 | Polymorphism | p.ARG322CYS | N/A |
Swiss-Prot | VAR_066868 | Disease | p.ARG347CYS | Fish-eye disease (FED) |
Swiss-Prot | VAR_039027 | Disease | p.ARG159GLN | Fish-eye disease (FED) |
Swiss-Prot | VAR_004258 | Disease | p.ARG164HIS | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039032 | Disease | p.ARG268HIS | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
dbSNP | rs201081877 | Polymorphism | p.ARG386PRO | N/A |
Swiss-Prot | VAR_004257 | Disease | p.ARG159TRP | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004259 | Disease | p.ARG171TRP | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039020 | Disease | p.ASN29ILE | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004263 | Disease | p.ASN252LYS | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004254 | Disease | p.GLY57ARG | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039024 | Polymorphism | p.GLY95ARG | N/A |
Swiss-Prot | VAR_004253 | Disease | p.GLY54SER | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039037 | Polymorphism | p.LEU396ARG | N/A |
Swiss-Prot | VAR_066867 | Disease | p.LEU338PHE | Fish-eye disease (FED) |
Swiss-Prot | VAR_004262 | Disease | p.LEU233PRO | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039031 | Disease | p.LYS242ASN | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004265 | Disease | p.MET317ILE | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004264 | Disease | p.MET276LYS | Fish-eye disease (FED) |
Swiss-Prot | VAR_039038 | Disease | p.PHE406VAL | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039021 | Disease | p.PRO34GLN | Fish-eye disease (FED) |
Swiss-Prot | VAR_004252 | Disease | p.PRO34LEU | Fish-eye disease (FED) |
Swiss-Prot | VAR_039035 | Disease | p.PRO331SER | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039030 | Disease | p.SER205ASN | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039025 | Polymorphism | p.SER115PRO | N/A |
dbSNP | rs4986970 | Polymorphism | p.SER232THR | N/A |
Swiss-Prot | VAR_039033 | Disease | p.THR298ALA | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004256 | Disease | p.THR147ILE | Fish-eye disease (FED) |
Swiss-Prot | VAR_039034 | Disease | p.THR298ILE | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004266 | Disease | p.THR345MET | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039022 | Disease | p.THR37MET | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_004267 | Disease | p.THR371MET | Fish-eye disease (FED) |
Swiss-Prot | VAR_066862 | Disease | p.TRP99SER | Fish-eye disease (FED) |
Swiss-Prot | VAR_004260 | Disease | p.TYR180ASN | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_039023 | Disease | p.VAL70GLU | Fish-eye disease (FED) |
Swiss-Prot | VAR_039036 | Disease | p.VAL333MET | Lecithin-cholesterol acyltransferase deficiency (LCATD) |
Swiss-Prot | VAR_066864 | Polymorphism | p.VAL246PHE | N/A |
OMIM | 606967.0012 | Disease | p.ALA93THR | LCAT DEFICIENCY |
OMIM | 606967.0012 | Disease | p.ARG158CYS | LCAT DEFICIENCY |
OMIM | 606967.0013 | Disease | p.ARG135TRP | LCAT DEFICIENCY |
OMIM | 606967.0018 | Disease | p.ASN131ASP | FISH-EYE DISEASE |
OMIM | 606967.0004 | Disease | p.ASN228LYS | LCAT DEFICIENCY |
OMIM | 606967.0005 606967.0008 | Disease | p.ILE123THR | FISH-EYE DISEASE |
OMIM | 606967.0011 | Disease | p.LEU209PRO | LCAT DEFICIENCY |
OMIM | 606967.0002 | Disease | p.MET293ILE | LCAT DEFICIENCY |
OMIM | 606967.0010 | Disease | p.MET252LYS | LCAT DEFICIENCY |
OMIM | 606967.0007 | Disease | p.PRO10LEU | FISH-EYE DISEASE |
OMIM | 606967.0015 | Disease | p.THR321MET | LCAT DEFICIENCY |
OMIM | 606967.0009 | Disease | p.THR347MET | FISH-EYE DISEASE |
OMIM | 606967.0001 | Disease | p.TRP147ARG | LCAT DEFICIENCY |
OMIM | 606967.0016 | Disease | p.TYR83TER | LCAT DEFICIENCY |