, et al., ([0000](#mgg0000-bib-0000){ref-type="ref"})              Exon 0               c.000G\>A                                                  p.(Ala000Thr)                                        0                                                  0         Feliubadalo, et al., ([0000](#mgg0000-bib-0000){ref-type="ref"})      Exon 0               c.000G\>A                                                  p.(Val000Met)                                        0                                                  0         Font‐Llitjos et al. ([0000](#mgg0000-bib-0000){ref-type="ref"})       Exon 00              c.000C\>T                                                  p.(Ala000