c.(000+0\_?)del   p.(?)                                                                   0                                             0         Jaeken, et al., ([0000](#mgg0000-bib-0000){ref-type="ref"})          Exon 0 to exon 0                      c.(000+0_000‐0)\_(0000+0_0000‐0)del                                         p.(Leu000