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Mutations on the Protein: Q9P2D1 From Positions: 899 To 1049

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Swiss-Prot Polymorphism: VAR_068123
p.ARG947GLN
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068122
p.ARG944HIS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068121
p.ARG938LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068389
p.GLY975ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_021059
p.ILE1028VAL
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Disease: VAR_068124
p.LEU1020SER
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Polymorphism: VAR_068119
p.LYS907THR
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068388
p.THR942ALA
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068120
p.THR917MET
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068390
p.TRP1031ARG
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Disease: VAR_033245
p.TRP1031GLY
N/A
N/A
CHARGE syndrome (CHARGES)


OMIM Disease: 608892.0001
p.ILE1028VAL
N/A
N/A
CHARGE SYNDROME






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