42 Core list HIES syndromen v1 (12-11-2015)

gen	ref seq	sequentie analyse	CNV analyse	repeatexpansie analyse	opmerkingen
STAT3	NM139276.2, NM003150.3	ja	nee	nvt
DOCK8	NM203447.3	ja	ja	nvt	SALSA MLPA P385 DOCK8 probemix