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XL diseases with the highest carrier rate in the study population
| Disease | Gene | N | Variation |
|---|---|---|---|
| DMD | DMD | 1 | Exon51_52 Del |
| 1 | Exon14_17 Dup | ||
| 1 | Exon28_29 Del | ||
| 1 | Exon43_44 Del | ||
| 1 | Exon48_49 Del | ||
| 1 | Exon48_51 Del | ||
| 1 | c.7555G > A (p.Asp2519Asn) | ||
| Hemophilia B | F9 | 1 | c.479G > A (p.Gly160Glu) |
Del deletion, Dup duplication
