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Mutations on the Protein: P10253 From Positions: 571 To 619

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Swiss-Prot Disease: VAR_068616
p.ALA610VAL
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018095
p.ARG600CYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068612
p.ARG594HIS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_008689
p.ARG600HIS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068611
p.ARG585LYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_046472
p.ARG585MET
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068613
p.ARG594PRO
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018094
p.GLU579LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_004299
p.GLY576ALA
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068610
p.GLY576ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_008690
p.GLY615ARG
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018096
p.GLY607ASP
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Polymorphism: VAR_068617
p.GLY611ASP
N/A
N/A
N/A


dbSNP Polymorphism: rs1800307
p.GLY576SER
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068608
p.HIS572GLN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_029038
p.HIS612GLN
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068618
p.HIS612TYR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068614
p.SER601LEU
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_046473
p.SER599TYR
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068615
p.THR602ALA
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068619
p.THR614LYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_068609
p.TYR575CYS
N/A
N/A
Glycogen storage disease 2 (GSD2)


Swiss-Prot Disease: VAR_018093
p.TYR575SER
N/A
N/A
Glycogen storage disease 2 (GSD2)






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