Fig. 5.

Schematic and sequence showing the breakpoints of the 19,403-bp SGCD deletion in case 1. Note that SGCD is annotated on the minus strand. Whole exome sequence from a healthy dog and case 1 are aligned to the reference genome, visualized in Golden Helix GenomeBrowse ® [21, 22]. Case 1 has no coverage of exons 7 and 8 and flanking regions. Sequence of the wild-type and case 1 alleles show the precise breakpoints. Nucleotides 5′ and 3′ of the breakpoint are in bold blue and orange typeface, respectively. A substitution (chr4:53262020-53262018, CAT > GG) is found 9 bp downstream of the microdeletion and is shown in bold red typeface