Mutations on the Protein

Mutations on the Protein: Q9P2D1 From Positions: 2098 To 2248

9 8	0 1

Swiss-Prot Polymorphism: VAR_068146

p.ALA2160THR N/A		N/A VAR_068146
N/A

Swiss-Prot Polymorphism: VAR_068147

p.ALA2225THR N/A		N/A VAR_068147
N/A

Swiss-Prot Polymorphism: VAR_068413

p.ASN2118ASP N/A		N/A VAR_068413
N/A

Swiss-Prot Disease: VAR_068144

p.GLY2108ARG N/A		N/A VAR_068144
CHARGE syndrome (CHARGES)

Swiss-Prot Polymorphism: VAR_068143

p.GLY2103ASP N/A		N/A VAR_068143
N/A

Swiss-Prot Disease: VAR_068145

p.ILE2116ASN N/A		N/A VAR_068145
CHARGE syndrome (CHARGES)

Swiss-Prot Polymorphism: VAR_068412

p.THR2112MET N/A		N/A VAR_068412
N/A

Swiss-Prot Polymorphism: VAR_068411

p.VAL2102ILE N/A		N/A VAR_068411
N/A

OMIM Disease: 608892.0011

p.GLY2108ARG N/A		608892.0011 N/A
CHARGE SYNDROME

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