Table 1.

Number of variants identified by WES in two affected individuals of family A

Filtering Steps	Individual II:3	Individual II:4	Shared variants for both individuals
Total variants	45.953	46.860	31.622
SNP frequency <0.5	29.020	29.688	16.645
In-house frequency <0.5	2.431	2.519	476
Exonic and canonical splice sites	887	900	175
Nonsynonmous	646	638	123
Grantham score >80	281	274	41
Phylop >2.7	234	231	46