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Mutations on the Protein: P13647 From Positions: 148 To 177

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Swiss-Prot Disease: VAR_027723
p.ARG169PRO
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_010457
p.ASN176SER
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_026538
p.ASN177SER
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_031641
p.ASP158VAL
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_026536
p.GLU167LYS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_027722
p.GLU168LYS
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_026537
p.GLU170LYS
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


Swiss-Prot Disease: VAR_003872
p.ILE161SER
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_010456
p.LEU175PHE
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_010455
p.LYS173ASN
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


Swiss-Prot Disease: VAR_010454
p.PRO152LEU
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


OMIM Disease: 148040.0020
p.GLU170LYS
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1||EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED, INCLUDED


OMIM Disease: 148040.0003
p.ILE161SER
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED


OMIM Disease: 148040.0008
p.LEU174PHE
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE


OMIM Disease: 148040.0006
p.LYS173ASN
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED






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