Novel EPG5 Mutation Associated with Vici Syndrome Gene

Table 1

Two novels (private), homozygous, missense, and nonframeshift insertion mutations in EPG5 gene detected by whole exome sequencing (WES) using next generation Illumina sequencing.

Chr	Start	Ref	Alt	Gene	Zygosity	Function	Detail
Chr18	45917712	T	C	EPG5	Homo	Nonsynonymous	EPG5: NM-020964: exon17: c.A3206G: p.Y1069C
Chr18	45967193	—	TGGCCT	EPG5	Homo	Nonframeshit insertion	EPG5: NM-020964: exon1: c.46-47insAGGCCA: p.S16delinsKAS
SIFT	PolyPhen2	MutTaster	Pred		BayanGene	1000GenomeFreq	OMIM
0.01	1	1	D	CADD-Phred	2	.	Vici syndrome
.	0	.	.	.	2	0.0	Vici syndrome