Figure 1.

Clinical protocol for DNA variant qualification. Clinical DNA variant (column 4) and 1–4 + medical diagnostic utilities (last column) are added to consensus qualifications (column 2) as discussed in the text; DNA/protein change and gene abbreviations except for MTHFR (methylene tetrahydrofolate reductase) and HBB (beta-globin) are explained in Tables S2 and S3; single amino acid codes (A—alanine, D—aspartate, E—glutamate, I—isoleucine, L—leucine, M—methionine, P—proline, Q—glutamine, R—arginine, S—serine, T—threonine, X—stop, V—valine) used here; fs, frame-shift.