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Mutations on the Protein: Q9P2D1 From Positions: 2248 To 2398

9
7
0
2


Swiss-Prot Polymorphism: VAR_068414
p.ALA2259THR
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068148
p.ARG2319CYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_033250
p.ARG2319SER
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Disease: VAR_068415
p.GLY2286ALA
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Polymorphism: VAR_068149
p.GLY2330ALA
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068417
p.LEU2366ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068416
p.LYS2312THR
N/A
N/A
N/A


OMIM Disease: 608892.0006
p.ARG2319SER
N/A
N/A
CHARGE SYNDROME


OMIM Disease: 608892.0005
p.TRP2332TER
N/A
N/A
CHARGE SYNDROME






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