Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases

Table 1

GJA1 variants without clinical information.

Sources	GJA1 variant		Cases
	Nucleotide	Protein
Paznekas et al. [3]	c.7G>A	p.D3N	1
Paznekas et al. [3]	c.64G>A	p.G22R	1
Paznekas et al. [3]; Richardson et al. [6]	c.79T>C	p.S27P	1
Paznekas et al. [3]	c.163A>G	p.N55D	1
Paznekas et al. [3]	c.174A>C	p.Q58H	1
Paznekas et al. [3]	c.175C>G	p.P59A	1
Paznekas et al. [3]	c.221A>T	p.H74L	1
Paznekas et al. [3]	c.428G>A	p.G143D	1
Paznekas et al. [3]	c.430A>G	p.K144E	1
Paznekas et al. [3]	c.434T>G	p.V145G	1
Paznekas et al. [3]	c.442C>G	p.R148G	1
Paznekas et al. [3]	c.578C>T	p.P193L	1