Table 3.

Nonsense variants found in the Czech cohort. The Proof of pathogenicity column provides information on which the variant evaluation is based with “null” indicating that the variant probably results in no gene product and “MP” indicates multiple published patients (including this study). The resources are indicated in the References column. Numbers of patients and probands of our cohort are given in corresponding columns. ^# indicates previously published probands/patients of our cohort and x in ^x# indicates the number of them

Variant cDNA	Variant protein	Proof of pathogenicity	ACMG evaluation	Number of probands	Number of patients	References
c.209C > G	p.(Ser70*)	Null	Pathogenic	1#	1#	[18]
c.897G > A	p.(Trp299*)	Null, MP	Pathogenic	1#	31#	[17, 30, 32]
c.1036C > T	p.(Gln346*)	Null, MP	Pathogenic	1	3	[30, 35, 36]
c.1420C > T	p.(Gln474*)	Null, MP	Pathogenic	1	3	[12, 30, 56]