Mutations on the Protein: P08F94 From Positions: 611 To 815
Swiss-Prot Polymorphism: VAR_066425 
dbSNP Polymorphism: rs9370096 
Swiss-Prot Disease: VAR_014044 

p.ARG760HIS

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Polymorphism: VAR_051282 
Swiss-Prot Disease: VAR_018533 

p.ASP703ASN

N/A
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N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Disease: VAR_066424 

p.HIS686PRO

N/A
| |

N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Disease: VAR_018536 

p.ILE757LEU

N/A
| |

N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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dbSNP Polymorphism: rs117122807 
Swiss-Prot Disease: VAR_066426 

p.PRO724ARG

N/A
| |

N/A
|
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Disease: VAR_018535 

p.PRO739LEU

N/A
| |

N/A
|
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Disease: VAR_018537 

p.PRO805LEU

N/A
| |

N/A
|
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Polymorphism: VAR_014042 
Swiss-Prot Disease: VAR_018532 

p.TRP656CYS

N/A
| |

N/A
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Polycystic kidney disease, autosomal recessive (ARPKD)
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Swiss-Prot Polymorphism: VAR_018534 
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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