Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome

Table 2

Genetic information of CCDC39 variants of the two PCD patients.

Subject	F1 II-1	F2 II-1
cDNA mutation	M1: c.286C>T (homozygous)	M2: c.732_733del	M3: c.2800_2802dup
Exon	Exon 3	Exon 6	Exon20
Mutation type	Nonsense	Frameshift deletion	Nonframeshift duplication
Protein alteration	p.Arg96Ter	p.Ala245PhefsTer18	p.Val934dup
rs ID	778577109	NA	556950924
Allele frequency in human population
1KGP	0	0
ExAC_all		0
gnomAD		0
Deleterious prediction
SIFT	NA	NA	NA
PolyPhen-2	NA	NA	NA
MutationTaster	D	NA	NA

RefSeq accession number of CCDC39 is NM_181426. Abbreviations: 1KGP: 1000 Genomes Project; ExAC_all: all the data of Exome Aggregation Consortium; gnomAD: Genome Aggregation Database; D: disease-causing; NA: not available.