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.