Fig. 3

Summary of the genomic variants identified, grouped per variant classes in the HGMD database. HGMD variant classes were as follows: DP disease-associated polymorphisms, DFP disease-associated polymorphisms with additional supporting functional evidence, FP functional polymorphisms with in vitro/laboratory or in vivo supporting evidence but no known disease association DM disease-causing mutations, DM? putative disease-causing mutations but where there is some residual doubt as to pathological significance