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Mutations on the Protein: P10253 From Positions: 190 To 238

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Swiss-Prot Disease: VAR_029027
p.ALA237VAL
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068575
p.ARG224GLN
N/A
N/A
Glycogen storage disease 2 (GSD2)


dbSNP Polymorphism: rs1042395
p.ARG223HIS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068574
p.ARG224PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029026
p.ARG224TRP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018079
p.GLY219ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


dbSNP Polymorphism: rs1042393
p.HIS199ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_029025
p.LEU208PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068571
p.PRO217LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068577
p.THR234ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068576
p.THR234LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_046467
p.TYR191CYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068572
p.VAL220LEU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068573
p.VAL222MET
N/A
N/A
N/A


OMIM Disease: 606800.0016
p.ALA237VAL
N/A
N/A
GLYCOGEN STORAGE DISEASE II, ADULT FORM






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