Table 1 Homozygous SNPs identified for patient 2, using WES
From: Azoospermia and reciprocal translocations: should whole-exome sequencing be recommended?
Gene | Mutation | Type | Frequency (gnomAD) | M-CAP | Revel | SIFT | Polyphen2 |
|---|---|---|---|---|---|---|---|
TMPRSS9 | T4A | homozygous | 0.0138 | unknown | benign | benign | benign |
R74W | homozygous | 0.0011 | unknown | benign | deleterious | deleterious | |
T1044I | homozygous | 0.0032 | unknown | deleterious | deleterious | deleterious | |
DNMT3B | E115D | homozygous | < 0.0001 | deleterious | benign | benign | probably deleterious |