Table 1 All variation sites detected by amplicon sequencing
gene-exon gene-exon | position | Type | Zygosity | Reference | Variant | Freqence of variant | coveragea | ID in refSNPb | comment |
|---|---|---|---|---|---|---|---|---|---|
STX11-exon2 | c.*70G > A | non-coding region | Homozygous | G | A | 100 | 740 | rs3734228 | none disease-causing |
PRF1-Exon3 | c.900C > T p.His300His | synonymous mutation | Homozygous | G | A | 100 | 420 | novel | none disease-causing |
PRF1-Exon3 | c.822C > T p.Ala274Ala | synonymous mutation | Heterozygous | G | A | 51.1 | 999 | novel | none disease-causing |
UNC13D-exon32 | c.3198A > G p.Glu1066Glu | synonymous mutation | Heterozygous | T | C | 51.1 | 963 | novel | none disease-causing |
UNC13D-exon29 | c.2710-48C > T | intron | Heterozygous | G | A | 49.2 | 1000 | rs2290768 | none disease-causing |
UNC13D-exon27 | c.2599A > G p.Lys867Glu | missense | Heterozygous | T | C | 48.3 | 986 | novel | none disease-causing |
UNC13D-exon24 | c.2299-46C > T | intron | Heterozygous | G | A | 44.5 | 999 | rs7212635 | none disease-causing |
UNC13D-exon21 | c.1977C > T p.Thr659Thr | synonymous mutation | Heterozygous | G | A | 38.1 | 1000 | novel | none disease-causing |
UNC13D-exon20 | c.1728-48 T > C | intron | Heterozygous | A | G | 47 | 985 | rs3744024 | none disease-causing |
UNC13D-exon18 | c.1596 + 36A > G | intron | Heterozygous | T | C | 45.8 | 998 | rs3744026 | none disease-causing |
UNC13D-exon11 | c.888G > C p.Pro296Pro | synonymous mutation | Heterozygous | C | G | 51.8 | 998 | novel | none disease-causing |
UNC13D-exon7 | c.570-60 T > G | intron | Heterozygous | A | C | 52.7 | 995 | rs8067076 | none disease-causing |
UNC13D-exon1 | c.117 + 30G > A | intron | Heterozygous | C | T | 48.2 | 842 | rs3744011 | none disease-causing |
STXBP2-exon2 | c.38-7C > T | intron | Heterozygous | C | T | 59.5 | 79 | rs8104339 | none disease-causing |
STXBP2-exon15 | c.1356 + 18A > G | intron | Heterozygous | A | G | 47.2 | 998 | rs889187 | none disease-causing |
STXBP2-exon15 | c.1356 + 77A > G | intron | Heterozygous | A | G | 46.9 | 997 | rs710951 | none disease-causing |
STXBP2-exon16 | c.1443 T > C p.Asp481Asp | synonymous mutation | Heterozygous | T | C | 52.9 | 357 | novel | none disease-causing |
STXBP2-exon18 | c.1576A > G p.Ile526Val | missense | Heterozygous | A | G | 46.5 | 185 | novel | none disease-causing |
STXBP2-exon18 | c.1696 + 20A > G | intron | Heterozygous | A | G | 51.7 | 201 | novel | none disease-causing |
SH2D1A-exon1 | c.92delT p.Leu31Argfs*50p. | frameshift mutation | Homozygous | T | - | 100 | 864 | novel | disease-causing |