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Mutations on the Protein: Q9P2D1 From Positions: 1199 To 1349

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12
0
2






Swiss-Prot Polymorphism: VAR_068396
p.ARG1317CYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068128
p.ARG1345CYS
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068398
p.ARG1345HIS
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Polymorphism: VAR_068394
p.CYS1251ARG
N/A
N/A
N/A


Swiss-Prot Disease: VAR_068397
p.CYS1318ARG
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Disease: VAR_033246
p.GLN1214ARG
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Polymorphism: VAR_068125
p.GLU1203GLN
N/A
N/A
N/A


Swiss-Prot Disease: VAR_021060
p.LEU1257ARG
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Disease: VAR_068395
p.LEU1292PRO
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Disease: VAR_033247
p.LEU1294PRO
N/A
N/A
CHARGE syndrome (CHARGES)


Swiss-Prot Polymorphism: VAR_068127
p.LEU1322PRO
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_068126
p.VAL1208ASP
N/A
N/A
N/A


OMIM Disease: 608892.0007
p.GLU1271TER
N/A
N/A
CHARGE SYNDROME


OMIM Disease: 608892.0002
p.LEU1257ARG
N/A
N/A
CHARGE SYNDROME






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