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Mutations on the Protein: Q8TE73 From Positions: 462 To 694

5
2
2
1



Swiss-Prot Polymorphism: VAR_053842
p.GLN620LYS
N/A
N/A
N/A


dbSNP Polymorphism: rs35090077
p.LEU591ARG
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_053841
p.LEU591VAL
N/A
N/A
N/A


dbSNP Polymorphism: rs1530498
p.THR558ALA
N/A
N/A
N/A


OMIM Disease: 603335.0004
p.GLN610TER
N/A
N/A
CILIARY DYSKINESIA, PRIMARY, 3






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