Table 2 SNV and CNVs of SYCE1 in the subjects with meiotic defects
From: Novel copy number variations within SYCE1 caused meiotic arrest and non-obstructive azoospermia
Position | ID | Gene | cDNA mutation | Protein alteration | gnomAD Dataset | DGV Dataset | Genotype | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
MAF | Carriers | MAF | Carriers | Case(s) | Father | Mother | |||||
SNV of SYCE1 identified in NOA-affected patient (P6326) via WES | |||||||||||
 clirlO:  135369312 | rs777697888 | SYCE1 | c.689_690 del | p.F230 fs | 1.2 × l05 | Het:3:Hom:0 | / | / | G/G | GAA/G | GAA/GAA |
CNVs of SYCE1 identified in NOA-affected patients using CNV array | |||||||||||
 chrlO: 135111754_ 135427143 | NA | SYCE1 | / | / | / | / | NA | NA | het | wt | het |
 clirlO: 135340247_ 135379115 | gssvL16107 | SYCE1 | / | / | / | / | 6.1 × l0−3 | Het:97;Hom:0 | hom | het | het |