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Mutations on the Protein: Q76LX8 From Positions: 428 To 499

7
3
1
3




dbSNP Polymorphism: rs2301612
p.GLN448GLU
N/A
N/A


Swiss-Prot Polymorphism: VAR_027162
p.GLN456HIS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_027163
p.PRO457LEU
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_027121
p.PRO475SER
N/A
N/A
N/A


OMIM Disease: 604134.0015
p.GLN448GLU
N/A
N/A
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL


OMIM Disease: 604134.0013
p.GLN449TER
N/A
N/A
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL


OMIM Disease: 604134.0016
p.PRO475SER
N/A
N/A
THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL






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