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.