Table 2: Variants identified by WES and confirmed by Sanger sequencing.

ARAUJO, T. Fenz, et al. Sequence analysis of 37 candidate genes for male infertility: challenges in variant assessment and validating genes. Andrology, 2020, 8. Jg., Nr. 2, S. 434-441.

Publication: https://doi.org/10.1111/andr.12704

Description

ID: Patient Identity, Inh: inheritance pattern, SCOS: Sertoli cell-only syndrome, Mat.A: germ cell maturation arrest, AD: autosomal dominant inheritance, AR: autosomal recessive inheritance, 1/0: variant found in heterozygous status, 1/1: variant found in homozygous status, B: benign prediction, P: possibly or probably pathogenic, T: tolerated, D: deleterious or damaging, N: neutral. 1ESP, 1000 Genomes, gnomAD. 2gnomAD *Dominant variants with frequency > 0.01 (see text for reasons why they were included).

Disclaimer

The publication Sequence analysis of 37 candidate genes for male infertility: Challenges in variant assessment and validating genes by Thais Fenz Araujo, Corinna Friedrich, Carlos Henrique Paiva Grangeiro, Lucia Regina Martelli, J D Grzesiuk, Jana Emich, Margot Julia Wyrwoll, Sabine Kliesch, Aguinaldo Luíz Simões, Frank Tüttelmann is published under an open access license: https://creativecommons.org/licenses/by-nc/4.0/. Share — copy and redistribute the material in any medium or format Adapt — remix, transform, and build upon the material

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