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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.
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Human Genomics

ISSN: 1479-7364