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Mutations on the Protein: P13647 From Positions: 177 To 207

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Swiss-Prot Disease: VAR_003873
p.ASN193LYS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


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


dbSNP Polymorphism: rs641615
p.ASP197GLU
N/A
N/A
N/A


Swiss-Prot Disease: VAR_031643
p.GLN191PRO
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


Swiss-Prot Disease: VAR_027724
p.GLU190LYS
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_026539
p.LYS199THR
N/A
N/A
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)


Swiss-Prot Disease: VAR_010458
p.PHE179SER
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_010459
p.SER181PRO
N/A
N/A
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)


Swiss-Prot Disease: VAR_013829
p.VAL186LEU
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


Swiss-Prot Disease: VAR_031642
p.VAL186MET
N/A
N/A
Epidermolysis bullosa simplex, Koebner type (K-EBS)


OMIM Disease: 148040.0007
p.ASN193LYS
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED


OMIM Disease: 148040.0012
p.SER181PRO
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE


OMIM Disease: 148040.0014
p.VAL186LEU
N/A
N/A
EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED






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