Supplementary Appendix), to affect protein function. Review of public databases identified one putative nonsense mutation, rs35490626; however, it did not meet validation criteria established by dbSNP, since it was not found in more than one sequence read and did not undergo PCR confirmation. Nonetheless, we genotyped 12,826 chromosomes from persons from a diversity of ethnic groups (Table S6 in the Supplementary Appendix), including 1972 chromosomes from neurologically normal controls, and found no further occurrences of any of these variants, suggesting that they are very rare in the general population.
