Table 1. Variants segregating with HWSD phenotype.

Genomic Location	Variant Type	Effect	gDNA	cDNA	Protein
chr8:80111598	1 bp-insertion	Frameshift SERPINB11	g.80111598_80111599insC or:g8883_8884insC	c.504_505insC	p.Thr169Hisfs*3
chr8:80259666	SNV	Downstream; 1431bp from SERPINB2 and upstream; 2596 bp from SerpinB10	g.80259666T>C	N/A	N/A
chr8:80319671	12 bp-insertion	Upstream; 691bp from SerpinB8	g.80319671_80319683insTGAAAAATAAAT	N/A	N/A
chr8:80319673	4-bp deletion	Upstream; 677bp from SerpinB8	g. 80319673del	N/A	N/A

Four variants were unique to the 23 affected Connemara ponies and heterozygous in 27 obligate carriers.