Table 2.

List of patients homozygous for variants in known PCD genes. Patients 4 and 32 are siblings and patients 6 and 15 are cousins. LP: likely pathogenic, P: pathogenic and VUS: Variants of unknown significance.

Patient no.	Gene	DNA nucleotide change	Protein amino acid change	ACMG classification	Note
1	RSPH9	c.804_806delGAA	p.Lys268del	P	–
2	DNAAF1	Exon 5 deletion	NA	LP	Deletion including exon 5 was reported (Davis et al., 2019)
3	CCDC39	c.1061del	p.Glu354Glysfs∗2	LP	Previously unpublished
4	CCDC151	c.925G > T	p.Glu309∗	P	–
5	CCNO	c.425del	p.Pro142Argfs∗15	LP	–
6	ZMYND10	c.155_158del	p.Val52Alafs∗23	P	Previously unpublished
7	RSPH9	c.804_806delGAA	p.Lys268del	P	–
9	DNAH5	c.9720+5G > A	NA	VUS	Previously unpublished, reported in ClinVar (Accession: VCV000454819)
11	DNAAF3	c.1105C > T	p.Gln369∗	LP	Previously unpublished
14	RSPH9	c.804_806delGAA	p.Lys268del	P	–
15	ZMYND10	c.155_158del	p.Val52Alafs∗23	P	Previously unpublished
16	DNAAF4	c.271+1G > T	NA	LP	Previously unpublished
17	DNAH5	c.2278_2279del	p.Gln760Gulfs∗11	LP	Previously unpublished
19	DNAL1	c.529G > C	p.Asp177His	VUS	Previously unpublished
22	CCNO	c.833dup	p.Tyr278∗	LP	Previously unpublished
24	DNAAF4	c.1111C > T	p.Arg371∗	LP	Previously unpublished
27	DNAL1	c.1311+2T > A	NA	LP	Previously unpublished
29	ZMYND10	c.1091C > G	p.Ser364∗	LP	Previously unpublished
30	DNAAF3	c.469C > T	p.Arg157∗	P	–
32	CCDC151	c.925G > T	p.Glu309∗	P	–