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. 2014 Jun 26;9(6):e100455. doi: 10.1371/journal.pone.0100455

Table 3. The two variants that can't be excluded.

Variations Bioinformation prediction Variations in
Family ID Gene Nucleotide Amino acid Status Polyphen-2 SIFT Splice patients controls Note
Family 1 CRYBA4 c.26C>T p.A9V Hetero Benign Tolerate / 1/18 0/96 Novel
Family 5 GJA8 c.367G>A p.G123S Hetero Benign Tolerate / 1/18 0/96 COSM1333689

Note: Hetero = heterozygosity.