502
The mutation of case 1 was a homozygous T to A transversion at nucleotide 2250 , the third nucleotide of the codon TGT for Cys728 , leading to a stop codon TGA ( C728X ) .
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Please list all entity words in the text that fit the category.Output format is "type1: word1; type2: word2". 
Option: Disease 
Text: {0} 
Answer:
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