Table 1. Currently known pathogenic mutations of the CDHR1 gene.

Exon/Intron	Base change	Amino acid substitution	Ethnicity	Reference
Exon 4	c.338delG	p.G113AfsX1	Middle East	[12]
Exon 6	c.524dupA	p.Q175QfsX47	Faroe Islands	[8]
Exon 13	c.1459delG	p.G487GfsX20	South Asia	[12]
Intron 13	c.1485+2T>G	Aberrant splicing	Israeli Christian Arab	Current report