Fig. 2

c.151-5 T > G was identified using whole-exome and Sanger sequencing in the family. a Pedigree of the family in which the carriers and patients are indicated as TG and GG, respectively. The proband (III.1), III.4, parents (II.1, II.2, II.3, and II.4), and III.2 were subjected to WES (all are shown by an asterisk (*)). In this pedigree, white symbols: unaffected who were homozygous for wild-type allele; red symbol: affected and homozygous for the variant; squares: males; circles: females; parallel lines: consanguineous marriage. The status of RAB3GAP1 variation is shown for each participant, in which, TG: heterozygote for novel variant and wild-type allele, and GG: homozygote for the variant. b Overlapped filtering strategy. The red zone indicates the remained variants for further analysis that are presented as a homozygote in 2 affected members (III.1 and III.4) but not in other individuals. These variants have been seen in heterozygous in other individuals (II.1, II.2, II.3, II.4, and III.2). The purple zone shows the common variants between all individuals. c Chromatograms showing nucleotide sequences of c.151-5 T > G of RAB3GAP1. In this figure, the size of the sequenced DNA region is shown using 2% gel electrophoresis, in which 1 denotes the patient sample, 2 and 3 show the mother and father samples, respectively. d MetaDome was used to identify the intolerant regions (surrounding the c.151-5 T > G variant) in RAB3GAP1. As depicted, the affected nucleotide/residue is located in a highly intolerant region