Connective tissue disorders Glycogen storage diseases Hereditary cancers Gene Total variants Gene Total variants Gene Total variants ALPL 14 AGL 19 APC 8 COL1A1 21 GAA 19 BRCA1 22 COL1A2 24 GBE1 5 BRCA2 32 COL3A1 12 GYS2 15 FANCA 33 COL5A1 49 PHKB 1 FANCG 3 COL5A2 14 PHKG2 2 MLH1 3 CRTAP 5 PYGL 11 MSH2 4 FKBP10 1         LEPRE1 5         PLOD1 1         PPIB 1         SERPINF1 11         SERPINH1 4         SP7 2         Total 164 Total 72 Total 105 Overall total 341

Table 1: Validated Sanger and NGS variants. Validated variants are totaled per gene and disease area under which they were originally detected. Not listed are intronic variants that were missed by Sanger sequencing but detected by NGS.