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Mutations on the Protein: P08F94 From Positions: 1833 To 2037

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Swiss-Prot Disease: VAR_066431
p.ALA2009THR
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018557
p.ASP1942GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_014054
p.GLN1917ARG
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_014055
p.GLU1995GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018558
p.GLY1971ASP
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018559
p.ILE1998THR
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


dbSNP Polymorphism: rs2435322
p.LEU1870VAL
N/A
N/A


Swiss-Prot Disease: VAR_018555
p.SER1867ASN
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_066430
p.TRP1928LEU
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018554
p.TYR1838CYS
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_066429
p.VAL1875GLY
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)


Swiss-Prot Disease: VAR_018560
p.VAL2032LEU
N/A
N/A
Polycystic kidney disease, autosomal recessive (ARPKD)






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