Single amino acid-substituting variations and distribution of concurrent variations in dbSNP/HapMap and HGMD by type of variation.

ansSNP or missense mutation: variation expected to replace one amino acid (AA1) with a different amino acid (AA2) btrSNP or nonsense mutation: variation expected to replace one amino acid (AA1) with a termination codon (TR) csnSNP: variation expected not to change the original amino acid (AA1) dVariation groups represented in Figure 1 diagram eVariations concurrent in dbSNP and HGMD fVariations concurrent in dbSNP, HapMap, and HGMD