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Mutations on the Protein: P10253 From Positions: 619 To 666

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Swiss-Prot Disease: VAR_046477
p.ARG660HIS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068622
p.ASN635LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004304
p.ASP645ASN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004302
p.ASP645GLU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004303
p.ASP645HIS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004305
p.CYS647TRP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004301
p.GLY643ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068624
p.GLY648ASP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004306
p.GLY648SER
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_046476
p.GLY638TRP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068623
p.GLY638VAL
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068621
p.PRO629LEU
N/A
N/A
N/A


Swiss-Prot Disease: VAR_046475
p.SER619ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068620
p.SER627PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


OMIM Disease: 606800.0010
p.ASP645GLU
N/A
N/A
GLYCOGEN STORAGE DISEASE II, INFANTILE FORM


OMIM Disease: 606800.0004
p.GLY643ARG
N/A
N/A
GLYCOGEN STORAGE DISEASE II, ADULT FORM






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