Fig 2. Chromatogram showing the location of the mutation Y: C/T in heterozygous, affected, and unrelated normal sheep.

The c.46C>T variant was determined after whole genome sequencing using Illumina HiSeq 2000 machine, aligning to the reference sheep genome (Oar3.1) using BWA-MEM, calling variants with GATK 3.4–46, and predicting variant effects with SnpEff 4.1.