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Mutations on the Protein: P40763 From Positions: 347 To 385

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Swiss-Prot Disease: VAR_037366
p.ARG382GLN
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037365
p.ARG382LEU
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037367
p.ARG382TRP
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037368
p.PHE384LEU
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


Swiss-Prot Disease: VAR_037369
p.PHE384SER
N/A
N/A
Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES)


OMIM Disease: 102582.0003
p.ARG382GLN
N/A
N/A
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


OMIM Disease: 102582.0005
p.ARG383LEU
N/A
N/A
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT


OMIM Disease: 102582.0002
p.ARG382TRP
N/A
N/A
HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT






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