Mutations on the Protein: Q9P2D1 From Positions: 1648 To 1798
Swiss-Prot Polymorphism: VAR_068402 
Swiss-Prot Polymorphism: VAR_068136 
Swiss-Prot Disease: VAR_068134 

p.GLY1684SER

N/A
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N/A
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CHARGE syndrome (CHARGES)
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Swiss-Prot Disease: VAR_068403 

p.GLY1797VAL

N/A
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N/A
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CHARGE syndrome (CHARGES)
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Swiss-Prot Disease: VAR_068135 

p.LEU1739ARG

N/A
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N/A
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CHARGE syndrome (CHARGES)
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Swiss-Prot Polymorphism: VAR_069034 
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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