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Mutations on the Protein: Q5HYA8 From Positions: 796 To 846

8
5
0
3



Swiss-Prot Disease: VAR_063800
p.ARG820SER
N/A
N/A
COACH syndrome (COACHS)


Swiss-Prot Disease: VAR_063802
p.GLN841PRO
N/A
N/A
COACH syndrome (COACHS)


Swiss-Prot Disease: VAR_064186
p.GLY821ARG
N/A
N/A
Nephronophthisis 11 (NPHP11)


Swiss-Prot Disease: VAR_064187
p.GLY821SER
N/A
N/A
Nephronophthisis 11 (NPHP11)


Swiss-Prot Disease: VAR_063801
p.ILE833THR
N/A
N/A
Joubert syndrome 6 (JBTS6)


OMIM Disease: 609884.0021
p.GLY821ARG
N/A
N/A
NEPHRONOPHTHISIS 11||JOUBERT SYNDROME 6, INCLUDED


OMIM Disease: 609884.0018
p.GLY821SER
N/A
N/A
NEPHRONOPHTHISIS 11


OMIM Disease: 609884.0013
p.ILE833THR
N/A
N/A
COACH SYNDROME||JOUBERT SYNDROME 6, INCLUDED






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