. Author manuscript; available in PMC: 2010 Dec 1.

Published in final edited form as: Hum Mutat. 2009 Dec;30(12):1611–1619. doi: 10.1002/humu.21120

Table 2.

Summary of identified HGD variants

	Missense	Splice site	Indel ^a	Other ^b	Total
NIH Study (Novel)	36 (14)	7 (3)	6 (3)	3 (2)	52 (22)
Other published	26	6	4	3	39
Total	62	13	10	6	91

Indel: includes insertions, deletions and insertion-deletions

Other: Includes nonsense and no-stop mutations