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Mutations on the Protein: P08F94 From Positions: 2852 To 3056

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Swiss-Prot Disease: VAR_018572
p.ASP2962GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Polymorphism: VAR_027440
p.ASP3052TYR
N/A
N/A
N/A


Swiss-Prot Disease: VAR_066443
p.HIS3049ARG
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_014058
p.ILE2957THR
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018569
p.SER2861GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018573
p.SER2983LEU
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_014059
p.SER3018PHE
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Polymorphism: VAR_018571
p.THR2869LYS
N/A
N/A
N/A


Swiss-Prot Polymorphism: VAR_014057
p.THR2938MET
N/A
N/A
N/A


Swiss-Prot Disease: VAR_018570
p.TYR2863CYS
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018574
p.VAL3036GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


OMIM Disease: 606702.0003
p.SER3018PHE
N/A
N/A
POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE






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