Supplementary Table 1.
The list of analyzed patients in Figure 4
| Genes | Nucleotide variants | Protein variants | Number of patients | Cohort size | References |
|---|---|---|---|---|---|
| DPY19L2 | c.869G>A | p.R290H | 3 | 34 | Hum Reprod 2012; 27: 2549–58 |
| c.1024C.>T | p.Q342* | ||||
| c.1073T.>A | p.M358K | ||||
| deletions | 23 | ||||
| c.1033C.>T | p.Q345X | 11 | 64 | Hum Mol Genet 2012; 21: 3695–702 | |
| c.1478C.>G | p.T493R | ||||
| c.2038A.T | p.K680X | ||||
| c.1183delT | p.S395LfsX7 | ||||
| deletion | |||||
| c.892C>T | p.R298C | ||||
| c.1218+1G>A | - | ||||
| deletions | 20 | ||||
| c.1532delA | p.K511RfsX8 | 5 | 15 | Mol Hum Reprod 2013; 19: 395–404 | |
| c.1679delT, c.1681_1682delAC | p.L560X | ||||
| c.869G>A | p.R290H | ||||
| c.989T.>C | p.L330P | ||||
| deletions | 4 | ||||
| c.1579_1580+4delAGGTAAinsTCAT | 3 | 18 | Mol Hum Reprod 2016; 22: 35–45 | ||
| c.892C>T | p.R298C | ||||
| deletions | 11 | ||||
| not tested | not tested | not tested | 20 | Am J Hum Genet 2011; 88: 351–61 | |
| deletions | 15 | ||||
| not tested | not tested | not tested | 8 | Am J Hum Genet 2011; 88: 344–50 | |
| deletions | 7 | ||||
| c.2126+5G>A | - | 4 | 9 | The current study | |
| c.1720C>T | p.R574* | ||||
| c.1182_1184delATC | p.L394_S395delinsF | ||||
| c.368A>G | p.H123R | ||||
| c.1182_1186delATCTT | p.L394FfsX19 | ||||
| c.1553_1554delAT | p.Y518CfsX14 | ||||
| deletions | 5 | ||||
| SAPAT16 | c.848G>A | p.R283Q | 3 | 3 | Am J Hum Genet 2007; 81: 813–20 |
| deletion of 22.6 Kb | - | 2 | 19 | J Assist Reprod Genet 2016; 33: 815–20 | |
| PICK1 | c.G198A | p.G393R | 1 | 3 | Asian J Androl 2010; 12: 556–60 |