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SIZN1 variants observed in males with MR of unknown etiology
| Frequency in males with MR |
Frequency in control- males |
||
|---|---|---|---|
| Mutation or alteration |
Amino acid change |
Total(729) | Total(494) |
| c.19C>T | p.R7C | 4(0.55%) | 1(0.2%) |
| c.1031C>T | p.T344I | 4(0.55%) | 0(0%) |
| 3′UTR+73_77 del6 | n/a | 2(0.27%) | 0(0%) |
| 3′UTR+73_76 del5 | n/a | 1(0.14%) | 0(0%) |
