Table 1 of Cohen, Mol Vis 2012; 18:2915-2921.

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