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Table 1 All variation sites detected by amplicon sequencing

From: Characterization of a novel disease-causing mutation in exon 1 of SH2D1A gene through amplicon sequencing: a case report on HLH

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
  1. a Coverage means the overall depth of this site by amplicon sequencing reads
  2. b If a known variant was detected for the targeted gene,its accession No kept in NCBI was listed, or we marked it as novel