The mutant alleles occurred in normal controls at relatively high frequencies due to founder effects, for example, rs17602729 or Gln12Term in the AMPD1 gene causing adenosine monophosphate deaminase deficiency [24], rs12948217 or Tyr231Term in the ASPA gene causing Canavan diseases [25], and rs11571833 or Lys3326Term in the BRCA2 gene causing hereditary breast and ovarian syndrome. The gene discussed is AMPD1; the disease is Canavan disease.