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. 2020 Apr 4;2020:6535974. doi: 10.1155/2020/6535974

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
HHS Vulnerability Disclosure