Mutation Details for c.31G>A 
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	            cDNA Name
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	            c.31G>A 
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	            Protein Name
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	            p.Val11Ile 
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	            Exon or Intron
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	            exon 1 
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	            Legacy Exon or Intron
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	            exon 1 
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	            163G/A 
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	            Other Details
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				Val or Ile at amino acid position 11 
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		            Contributors
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					Shackelton S,
Harris A  
					1992-09-22
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		            Institute
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					University of Oxford,
Ozford, England 
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	            Submitted Phenotype Details
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	            Reference
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	            Shackleton & Harris (NL#50) 
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