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Mutations on the Protein: O15305 From Positions: 209 To 221

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Swiss-Prot Disease: VAR_006110
p.ASN216ILE
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022501
p.ASN216SER
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022502
p.ASP217GLU
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022500
p.GLY214SER
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022503
p.HIS218LEU
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Polymorphism: VAR_022134
p.MET212VAL
N/A
N/A
N/A


OMIM Disease: 601785.0002
p.ASN216ILE
N/A
N/A
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia






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