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