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Table 2 Disease-causing mutations used in the validation phase

From: Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis

Gene Mutation Effect Zygosity Type Called Reference
PRF1 c.272C>T p.Ala91Val Het Missense Yes [52]
PRF1 c.797T>C p.Ile266Thr Het Missense Yes This study
UNC13D c.2135_2137del p.Ile712_Gly713delinsSer Het Deletion Yes This study
UNC13D c.2346_2349del p.Arg782Serfs*12 Het Deletion Yes [53]
UNC13D c.1388A>C p.Gln463Pro Het Missense Yes [41]
UNC13D c.118-307G>A Reduced expression Het Regulatory Yes [41]
UNC13D C.2719_2722dup p.Ser908TyrfsX3 Het Duplication Yes This study
UNC13D c.1992+1G>C Altered splicing Het Splicing Yes This study
STXBP2 exon 2 deletion - Hom Deletion Yesa This study
STXBP2 c.56T>C p.Ile19Thr Het Missense Yes This study
STXBP2 c.704G>C p.Arg235Pro Het Missense Yes This study
XIAP c.877G>A p.Gly293Ser Hemi Missense Yes This study
XIAP c.1141C>T p.Arg381* Hemi Nonsense Yes [10]
RAB27A c.148_149delinsC p.Arg50Glnfs*35 Hom Indel No [54]
RAB27A c.514_518del p.Gln172Asnfs*2 Hom Deletion Yes [6]
LYST c.2311C>T p.Gln771* Hom Nonsense Yes this study
LYST c.1902dup p.Ala635Serfs*4 Hom Duplication Yes [55]
AP3B1 c.1254dup p.Gln419Thrfs*22 Het Duplication Yes this study
AP3B1 c.2626C>T p.Arg876* Het Nonsense Yes this study
  1. aThe STXBP2 exonic deletion was detected by inspection of coverage plots
  2. Hemi hemizygous, Het heterozygous, Hom homozygous