29 Core list Pulmonaire ciliaire dyskinesie (PCD) v1 (17-12-2015)

gen	ref seq	sequentie analyse	CNV analyse	repeatexpansie analyse	opmerkingen
DNAH5	NM_001369.2	Yes	No	Nvt
DNAI1	NM_001281428.1	Yes	No	Nvt
CCDC114	NM_144577.3	Yes	No	Nvt	Alleen de mutatie: c.742G>A p.(Ala248fs)