Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_013356 | Disease | p.ALA626ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013341 | Disease | p.ALA99ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009389 | Disease | p.ALA646PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000033 | Disease | p.ALA141THR | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000060 | Disease | p.ALA294THR | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000086 | Disease | p.ALA626THR | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009383 | Disease | p.ALA616VAL | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000025 | Disease | p.ARG104CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009353 | Disease | p.ARG113CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000036 | Disease | p.ARG152CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013347 | Disease | p.ARG280CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000083 | Disease | p.ARG617CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000064 | Disease | p.ARG401GLN | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000070 | Disease | p.ARG518GLN | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000078 | Disease | p.ARG591GLN | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067329 | Disease | p.ARG660GLN | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000062 | Disease | p.ARG389GLY | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000084 | Disease | p.ARG617GLY | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000026 | Disease | p.ARG104HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000038 | Disease | p.ARG163HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000063 | Disease | p.ARG389HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009381 | Disease | p.ARG554HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000085 | Disease | p.ARG617HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009355 | Disease | p.ARG152LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013342 | Disease | p.ARG113PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000037 | Disease | p.ARG152PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009358 | Disease | p.ARG163PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000043 | Disease | p.ARG182PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009369 | Disease | p.ARG285PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013354 | Disease | p.ARG591PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013360 | Disease | p.ARG660PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009356 | Disease | p.ARG152SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009360 | Disease | p.ARG189TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013346 | Disease | p.ARG274TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009375 | Disease | p.ARG401TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000065 | Disease | p.ARG418TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000071 | Disease | p.ARG518TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009382 | Disease | p.ARG591TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000089 | Disease | p.ARG660TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009365 | Disease | p.ASN214ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000034 | Disease | p.ASN148SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013340 | Polymorphism | p.ASN13THR | N/A |
Swiss-Prot | VAR_009363 | Disease | p.ASP200ASN | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000048 | Disease | p.ASP221GLY | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000044 | Disease | p.ASP194HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000087 | Disease | p.ASP629HIS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009388 | Disease | p.ASP638TYR | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000045 | Disease | p.ASP200VAL | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_023004 | Disease | p.CYS88TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009385 | Disease | p.CYS631TYR | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009379 | Disease | p.GLN544ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013352 | Disease | p.GLN556ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000041 | Disease | p.GLN178GLU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000057 | Disease | p.GLU291ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000081 | Disease | p.GLU609GLY | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009384 | Disease | p.GLU630GLY | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009368 | Disease | p.GLU271LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000058 | Disease | p.GLU291LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009372 | Disease | p.GLU302LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000082 | Disease | p.GLU609LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067245 | Disease | p.GLU640LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009349 | Disease | p.GLU90LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000030 | Disease | p.GLY116ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000052 | Disease | p.GLY266ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000054 | Disease | p.GLY277ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009371 | Disease | p.GLY298ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013350 | Disease | p.GLY343ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013355 | Disease | p.GLY608ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067246 | Disease | p.GLY677ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067241 | Disease | p.GLY266GLU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_023005 | Disease | p.GLY343SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000068 | Disease | p.GLY512SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009376 | Disease | p.GLY529SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000056 | Disease | p.GLY277TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000072 | Disease | p.GLY522TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000067 | Disease | p.GLY507VAL | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009391 | Disease | p.HIS667ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067242 | Disease | p.LEU523PHE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000028 | Disease | p.LEU107PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009361 | Disease | p.LEU190PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000046 | Disease | p.LEU211PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000047 | Disease | p.LEU220PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009367 | Disease | p.LEU229PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009373 | Disease | p.LEU322PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_023006 | Disease | p.LEU503PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067328 | Disease | p.LEU516PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009390 | Disease | p.LEU654PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013344 | Disease | p.LYS217GLU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000053 | Disease | p.LYS276GLU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009374 | Disease | p.LYS336MET | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000077 | Disease | p.MET566LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067243 | Disease | p.PHE540CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009377 | Disease | p.PHE540SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000066 | Disease | p.PRO484ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000076 | Disease | p.PRO560ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000051 | Disease | p.PRO263LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000074 | Disease | p.PRO534LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009378 | Disease | p.PRO543LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000075 | Disease | p.PRO560LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009354 | Disease | p.PRO143SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013353 | Disease | p.PRO560SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009366 | Disease | p.PRO218THR | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009350 | Disease | p.SER103ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_023007 | Disease | p.SER514ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009386 | Disease | p.SER633ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000035 | Disease | p.SER149ASN | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009364 | Disease | p.SER213CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013358 | Disease | p.SER633ILE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009387 | Disease | p.SER636ILE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009352 | Disease | p.SER108LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000079 | Disease | p.SER606LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000024 | Disease | p.SER98LEU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000069 | Disease | p.SER515PHE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009357 | Disease | p.SER161PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000061 | Disease | p.SER342PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009380 | Disease | p.SER552PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000080 | Disease | p.SER606PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000029 | Disease | p.SER108TRP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067240 | Disease | p.THR198ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000027 | Disease | p.THR105ILE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013357 | Disease | p.THR632ILE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009392 | Disease | p.THR668ILE | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009362 | Disease | p.THR198LYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000049 | Disease | p.THR254MET | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009393 | Disease | p.THR693MET | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009351 | Disease | p.THR105PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000050 | Disease | p.THR254PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_067244 | Disease | p.THR632PRO | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013349 | Disease | p.TRP339ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000090 | Disease | p.TRP679ARG | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000039 | Disease | p.TYR174ASP | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009359 | Disease | p.TYR174CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000042 | Disease | p.TYR181CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_009370 | Disease | p.TYR296CYS | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_000040 | Disease | p.TYR174SER | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013345 | Disease | p.VAL224GLU | Adrenoleukodystrophy (ALD) |
Swiss-Prot | VAR_013359 | Disease | p.VAL635MET | Adrenoleukodystrophy (ALD) |
OMIM | 300371.0022 | Disease | p.ARG617CYS | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0009 | Disease | p.ARG401GLN | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0005 | Disease | p.ARG389GLY | ADRENOMYELONEUROPATHY |
OMIM | 300371.0021 | Disease | p.ARG617HIS | ADRENOMYELONEUROPATHY |
OMIM | 300371.0011 | Disease | p.ARG464TER | ADRENOMYELONEUROPATHY |
OMIM | 300371.0010 | Disease | p.ARG418TRP | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0016 | Disease | p.ARG518TRP | ADRENOMYELONEUROPATHY |
OMIM | 300371.0006 | Disease | p.ASN148SER | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0001 | Disease | p.GLU291LYS | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0013 | Disease | p.GLU477TER | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0008 | Disease | p.GLY266ARG | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0002 | Disease | p.PRO484ARG | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0019 | Disease | p.SER606LEU | ADDISON DISEASE |
OMIM | 300371.0014 | Disease | p.SER515PHE | ADRENOLEUKODYSTROPHY |
OMIM | 300371.0007 | Disease | p.TYR174ASP | ADRENOLEUKODYSTROPHY |