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Eleven novel variants detected in this study
| Patient No. | Variant | Inheritance |
| P4 | EX5–6 deletion | Maternal |
| P43 | EX12–33 deletion | Maternal |
| P77 | EX56–70 duplication | Maternal |
| P79 | c.3487C>T, p.(Gln1163Ter) | De novo |
| P82 | c.8086_8087insC, p.(Leu2696ProfsX14) | Maternal |
| P85 | c.9689delA, p.(Asp3230AlafsX53) | Maternal |
| P88 | c.9669C>T, p.(Arg3223Ter) | Maternal |
| P89 | c.2664 C>T, p.(Gln888Ter) | De novo |
| P92 | c.7899G>A, p.(Trp2633Ter) | Maternal |
| P94 | c.4131delA, p.(Lys1377AsnfsX5) | Maternal |
| P99 | c.1149+1G>A | Maternal |
