, et al., ([0000](#mgg0000-bib-0000){ref-type="ref"})         Exon 0 to exon 0                      c.(000+0_000‐0)\_(000+0_000‐0)del                                           p.(Ile000Asnfs\*00)                                                     0                                             0         Bisceglia et al. ([0000](#mgg0000-bib-0000){ref-type="ref"})         Exon 0 