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Mutations on the Protein: O15305 From Positions: 221 To 234

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Swiss-Prot Disease: VAR_006114
p.ALA233THR
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022504
p.ASP223ASN
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_006111
p.ASP223GLU
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022507
p.GLY228ARG
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022506
p.GLY228CYS
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_022505
p.THR226SER
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_006112
p.TYR229SER
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


Swiss-Prot Disease: VAR_006113
p.VAL231MET
N/A
N/A
Congenital disorder of glycosylation 1A (CDG1A)


OMIM Disease: 601785.0009
p.ASP223GLU
N/A
N/A
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia


OMIM Disease: 601785.0017
p.THR226SER
N/A
N/A
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia


OMIM Disease: 601785.0014
p.VAL231MET
N/A
N/A
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia






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