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. 2012 Dec 12;7(12):e51566. doi: 10.1371/journal.pone.0051566

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.