Table 2

- The identified variants in the present study.

Family Number	Ref seq NM	Nucleotide change	Amino Acid Change	Variant Type	SIFT	Polyphen2	ACMG
1	NM_000267.3	Exons 1-58 deletion	/	Deletion	D	D	pathogenic
2	NM_000267.3	c.5401C>T	p.Q1801*	Nonsense	D	D	Likely pathogenic
3	NM_000267.3	Exon 1 deletion	/	Deletion	D	D	pathogenic
4	NM_000267.3	c.2991-2A>C	/	Splicing	D	D	Likely pathogenic
5	NM_000267.3	c.484C>T	p.Q162*	Nonsense	D	D	pathogenic
6	NM_000267.3	c.5197T>C	p.S1733P#	Missense	T	D	Uncertain significance
7	NM_000267.3	c.4922G>A	p.W1641*	Nonsense	D	D	pathogenic
8	NM_000267.3	c.783_797delinsC	p.K261Nfs*25#	Frameshift	D	D	Likely pathogenic
9	NM_000267.3	Exons 1-58 deletion	/	Deletion	D	D	pathogenic
10	NM_000267.3	c.1019_1020del	p.S340Cfs*25	Frameshift	D	D	pathogenic

D (SIFT) possibly damaging; T (SIFT), tolerated; D (Polyphen2), probably damaging; #, novel variants.