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 |