Case | Gender | Age | Candidate gene | Exon/intron | Nucleotide change | Amino acid change | Genotype |
---|---|---|---|---|---|---|---|
P2 | F | 6Y3M | PRF1 | Exon3 | c.757G>A c.1061A>T | p.Glu253Lys p.Asp354Val | heterozygous heterozygous |
P16 | M | 3Y3M | SH2D1A | Exon2 | c.191G>A | p.Trp64Ter | hemizygous |
P17 | M | 11M24D | SH2D1A | Exon2 | c.162C>G | p.Tyr54Ter | hemizygous |
P26 | M | 11M17D | SH2D1A | Exon2 | c.163C>T | p.Arg55 Ter | hemizygous |
P1 | M | 1Y5M | PRF1 | Exon2 | c.385T>A | p.Trp129Arg | heterozygous |
P3 | M | 4Y5M | UNC13D | Exon6 | c.478G>A | p.Val160 Met | heterozygous |
P4 | M | 2Y8M | UNC13D | Exon6 | c.518C>T | p.Thr173Met | heterozygous |
P5 | F | 1Y7M | UNC13D | Exon10 | c.760C>T | p.Arg254Cys | heterozygous |
P6 | M | 8D | UNC13D | Exon23 | c.2296C>T | p.Glu766Ter | heterozygous |
P7 | M | 25D | UNC13D | Exon32 | c.3259C>T | p.Arg1087Trp | heterozygous |
XIAP | Exon5 | c.1268A>C | p.Gln423Proa | hemizygous | |||
P8 | M | 7Y9M | STXBP2 | Exon7 | c.497C>T | p.Thr166Meta | heterozygous |
P9 | M | 11Y11M | STXBP2 | Exon7 | c.497C>T | p.Thr166 Meta | heterozygous |
P10 | F | 5Y8M | STXBP2 | Exon7 | c.575G>A | p.Arg192His | heterozygous |
P11 | M | 1Y1M | STXBP2 | Exon9 | c.767T>C | p.Leu256Pro | heterozygous |
P38 | M | 1Y1M | XIAP | Exon5 | c.1268A>C | p.Gln423Proa | hemizygous |
P45 | M | 4Y | UNC13D | Intron1 | c.118-307G>A | Unknown | heterozygous |