Appendix 2 of Jaijo, Mol Vis 2012; 18:1719-1726.
To access the data, click or select the words “Appendix 2.” This will initiate the download of a compressed (pdf) archive that contains the file. NV: Variants not previously described. *: Nomenclature based on the protocadherin-15-CD2 (EU718480). **: Nomenclature based on the protocadherin-15-CD3 (EU718482). Variant c.986–81C>T has been previously described , but no SNP number has been assigned.