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Mutations on the Protein: P10253 From Positions: 286 To 333

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16
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3



Swiss-Prot Polymorphism: VAR_068583
p.ASN290ASP
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068587
p.ASN316ILE
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018082
p.GLY293ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018084
p.GLY309ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_046468
p.HIS308LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018083
p.HIS308PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004288
p.LEU299ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018085
p.LEU312ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068584
p.LEU291PHE
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068585
p.LEU291PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068588
p.MET318LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_004289
p.MET318THR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029029
p.PRO324LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029030
p.TRP330GLY
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018081
p.TYR292CYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068586
p.VAL310GLY
N/A
N/A
N/A


OMIM Disease: 606800.0017
p.GLY293ARG
N/A
N/A
GLYCOGEN STORAGE DISEASE II, ADULT FORM


OMIM Disease: 606800.0008
p.LEU299ARG
N/A
N/A
GLYCOGEN STORAGE DISEASE II, INFANTILE FORM


OMIM Disease: 606800.0002
p.MET318THR
N/A
N/A
GLYCOGEN STORAGE DISEASE II, INFANTILE FORM






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