Table 3. Known mutations in the human ADAMTS17 gene.

Sl. #	Mutation	Exon/ Intron	Nature of the mutation	State of zygosity	Ethnic origin of the family	Reference
1	c.2458_2459insG (p.E820Gfs*23)	Exon 18	Frameshift	Homozygous	Saudi Arabian	[10]
2	c.1721+1G>A	Intron 12	Splice site	Homozygous	Saudi Arabian	[10]
3	c.760C>T (p.Q254*)	Exon 4	Nonsense	Homozygous	Saudi Arabian	[10]
4	c.652delG (p.Asp218Thrfs*41)	Exon 4	Frameshift	Homozygous	Saudi Arabian	[15]
5	106.96 Kb Deletion	Exon 1–3	Deletion	Homozygous	Tunisian	[18]
6	c.873+1G>T	Intron 5	Splice site	Homozygous	Indian	Present study