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Table 1 Summary of mutations detected by exome sequencing of trios from families A, B, and C

From: Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGDassociated with inherited cataract

Pedigree (numbers affected) Physical location of variant Candidate gene (ID) Exon cDNA variant Protein variant Allele frequency (EVS)* Status
A (3) chr2:208,989,018 CRYGD (1412) 2 c.70C > A p.Pro24Thr 0/8,600 Recurrent (Additional file 5)
B (4) chr1:147,380,102 GJA8 (2703) 2 c.20T > C p.Leu7Pro 0/8,600 Novel
C (2) chr1:147,380,375 GJA8 (2703) 2 c.293A > C p.His98Pro 0/8,600 Novel
  1. *Allele frequencies for European Americans listed on the Exome Variant Server.