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Mutations on the Protein: Q5HYA8 From Positions: 348 To 398

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5
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Swiss-Prot Disease: VAR_063793
p.GLN376GLU
N/A
N/A
COACH syndrome (COACHS)


Swiss-Prot Disease: VAR_025474
p.GLN376PRO
N/A
N/A
Meckel syndrome 3 (MKS3)


Swiss-Prot Disease: VAR_063790
p.LEU349SER
N/A
N/A
COACH syndrome (COACHS)


Swiss-Prot Disease: VAR_063791
p.PRO358LEU
N/A
N/A
Joubert syndrome 6 (JBTS6)


Swiss-Prot Disease: VAR_063792
p.THR372LYS
N/A
N/A
COACH syndrome (COACHS)


OMIM Disease: 609884.0004
p.GLN376PRO
N/A
N/A
MECKEL SYNDROME, TYPE 3


OMIM Disease: 609884.0024
p.PRO358LEU
N/A
N/A
JOUBERT SYNDROME 6






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