Table 3 Novel non‐pathological variants found in this study.

Exon	Polymorphism	Frequency
14	c.1555‐71G>A	1/80
14	c.1555‐42T>C	1/80
31	c.4023C>T	1/80
33	3 Tandem repetition	34/80
33	4 Tandem repetition	3/80
33	5 Tandem repetition	54/80
40	c.5636+53C>T	1/80
40	c.5598C>A	1/80
41	c.5637‐27C>G	1/80
49	c.6439‐11C>T	2/80

Allele frequency refers to patient sample.