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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