Muscle and bone characteristics of a Chinese family with spinal muscular atrophy, lower extremity predominant 1 (SMALED1) caused by a novel missense DYNC1H1 mutation

Table 2 Prediction of the variant identified by WES and confirmed by Sanger sequencing

Gene	Transcript	Position	Variant	Function	dbSNP	ExAC database	SIFT	PolyPhen	Mutation Taster	CADD score
DYNC1H1	NM_001376	Chr:14, 101,979,787	L196S	Missense	Novel	Novel	Damaging	Probably damaging	Disease causing	29.3

ISSN: 1755-8794