Table 3.

Variants by exome analysis

Gene Variants Functional domain Amino acid Homology in six species 
ALK SNV + R510W 3/6 
NLRC4 SNV + H443P 5/5 
DTNB Insertion − In-frame at c-terminal - 
Gene Variants Functional domain Amino acid Homology in six species 
ALK SNV + R510W 3/6 
NLRC4 SNV + H443P 5/5 
DTNB Insertion − In-frame at c-terminal - 

SNV: single nucleotide variation.

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