Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_060899 | Disease | p.ALA357ASP | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_068439 | Disease | p.ALA451ASP | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060916 | Disease | p.ALA482GLU | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060878 | Disease | p.ALA196PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060891 | Disease | p.ALA281THR | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060885 | Polymorphism | p.ALA241VAL | N/A |
Swiss-Prot | VAR_060905 | Disease | p.ALA413VAL | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060911 | Disease | p.ALA452VAL | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060917 | Disease | p.ALA485VAL | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060879 | Disease | p.ARG200CYS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060882 | Disease | p.ARG228CYS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060921 | Disease | p.ARG496CYS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060894 | Disease | p.ARG294GLN | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060883 | Polymorphism | p.ARG228HIS | N/A |
Swiss-Prot | VAR_060892 | Disease | p.ARG289HIS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060901 | Disease | p.ARG376HIS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060922 | Disease | p.ARG496HIS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060932 | Disease | p.ARG600HIS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060902 | Disease | p.ARG376LEU | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005066 | Disease | p.ARG496LEU | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060933 | Disease | p.ARG600PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060914 | Disease | p.ARG474TRP | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005062 | Disease | p.ASN383SER | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_068440 | Disease | p.ASN520SER | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005063 | Disease | p.ASN389THR | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060890 | Polymorphism | p.ASP278ALA | N/A |
Swiss-Prot | VAR_060889 | Polymorphism | p.ASP251GLU | N/A |
Swiss-Prot | VAR_068436 | Disease | p.ASP251HIS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060929 | Disease | p.ASP563TYR | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060870 | Disease | p.ASP49VAL | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_011387 | Disease | p.CYS157ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060907 | Disease | p.CYS431ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060871 | Disease | p.CYS92TRP | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_068441 | Disease | p.GLN523HIS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060893 | Polymorphism | p.GLN292LYS | N/A |
Swiss-Prot | VAR_005059 | Disease | p.GLU246GLN | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060888 | Disease | p.GLU246LYS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060925 | Disease | p.GLU515VAL | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060875 | Disease | p.GLY166ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005058 | Disease | p.GLY242ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_054644 | Polymorphism | p.GLY506ARG | N/A |
Swiss-Prot | VAR_060884 | Disease | p.GLY232ASP | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060912 | Disease | p.GLY456ASP | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060887 | Disease | p.GLY245SER | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060920 | Disease | p.GLY494SER | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005067 | Disease | p.GLY577SER | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060906 | Disease | p.HIS421ARG | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_068438 | Disease | p.HIS425ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060924 | Disease | p.HIS514GLN | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_015288 | Disease | p.HIS319TYR | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_015290 | Disease | p.HIS421TYR | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060876 | Disease | p.ILE176ASN | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060880 | Disease | p.LEU225MET | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060872 | Disease | p.LEU103PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060874 | Disease | p.LEU137PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060881 | Disease | p.LEU225PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005060 | Disease | p.LEU302PRO | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060898 | Polymorphism | p.LEU341PRO | N/A |
Swiss-Prot | VAR_060908 | Disease | p.LEU432PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060910 | Disease | p.LEU450PRO | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060928 | Disease | p.LEU549PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060930 | Disease | p.LYS576ASN | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005061 | Disease | p.MET382ILE | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060915 | Disease | p.PHE480LEU | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_015291 | Disease | p.PHE463SER | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060896 | Disease | p.PRO323ALA | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060897 | Disease | p.PRO330ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060877 | Polymorphism | p.PRO184LEU | N/A |
Swiss-Prot | VAR_015292 | Disease | p.PRO475LEU | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_015289 | Disease | p.PRO371SER | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_015287 | Disease | p.SER248ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005065 | Disease | p.SER436ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060923 | Polymorphism | p.SER505GLY | N/A |
Swiss-Prot | VAR_060903 | Disease | p.SER379PRO | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060918 | Disease | p.THR486ALA | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_054643 | Polymorphism | p.THR322ILE | N/A |
Swiss-Prot | VAR_068435 | Disease | p.TRP209ARG | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060927 | Disease | p.TRP533ARG | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060886 | Disease | p.TRP244CYS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060909 | Disease | p.TRP435CYS | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_005064 | Disease | p.TRP391GLY | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060919 | Disease | p.TYR488ASN | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_060900 | Disease | p.TYR367CYS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_011388 | Disease | p.TYR446CYS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060926 | Disease | p.TYR517CYS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060895 | Disease | p.TYR313HIS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_015293 | Disease | p.TYR537HIS | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060913 | Disease | p.TYR467SER | Niemann-Pick disease A (NPDA) |
Swiss-Prot | VAR_060873 | Disease | p.VAL130ALA | Niemann-Pick disease B (NPDB) |
Swiss-Prot | VAR_038191 | Polymorphism | p.VAL36ALA | N/A |
Swiss-Prot | VAR_054642 | Polymorphism | p.VAL316GLU | N/A |
Swiss-Prot | VAR_068437 | Disease | p.VAL312MET | Niemann-Pick disease B (NPDB) |