Table 1. Data on sequence variants identified by the whole exome sequencing analysis.

Sample	Total no. ofvariants	No. of missense, nonsense and splicing variants	Variants in conserved regions and not in segmental duplications	Variants with MAF <0.5%	After exclusion of unlikely pathogenic missense changes	No. of variants fitting the disease model	No. of variants within linked regions
MOL0125 II:4	233,572	21,326	9,055	2,880	1,476	311	2*
MOL0486 II:1	232,065	20,469	8,245	2,536	1,252	277	2**

^*- The two variants are: c.1220delG in USH1C and c.218_219insC in VPS11. The latter was found in about 73% of ethnicity-matched exomes and is therefore predicted to be a population-specific polymorphism.

^**- The two variants are: c.1220delG in USH1C and c.705_706delTT in PKD1L2. The latter was found in about 20% of ethnicity-matched exomes and is therefore predicted to be a population-specific polymorphism.