Table 2.

Types of Putative Pathogenic Variants

Variant Type	Hemizygous, No.	Heterozygous, No.	Homozygous, No.	Total, No.
Large deletions/insertions	1	8	4	13
Missense	4	178	23	205
Nonsense	4	71	12	87
Frameshift	10	65	18	93
In frame		11	2	13
Splice site	3	43	11	57
Total	22	376	70	468