Table 2 Detected variations in the patient with HLH
Mutation | Position in reference genome GRCh37 | Amino acid change | Type | Frequency (%) | Zygosity | ID in dbSNP | Allele Frequency in ExAC |
|---|---|---|---|---|---|---|---|
PRF1:c.900C > T | NC_000010.10:g.72358577 | p.His300His | Synonymous | 49 | Heterozygous | rs885822 | 0.6357 |
UNC13D:c.3198A > G | NC_000017.10:g.73824121 | p.Glu1066Glu | Synonymous | 53 | Heterozygous | rs7210574 | 0.4844 |
UNC13D:c.2599A > G | NC_000017.10:73827205 | p.Lys867Glu | Missense | 50 | Heterozygous | rs1135688 | 0.3666 |
UNC13D:c.1977C > T | NC_000017.10:73831016 | p.Thr659Thr | Synonymous | 43 | Heterozygous | rs2290770 | 0.0318 |
UNC13D:c.888G > C | NC_000017.10:73836162 | p.Pro296Pro | Synonymous | 49 | Heterozygous | rs3744026 | 0.1525 |
UNC13D:c.279C > T | NC_000017.10:73839137 | p.Pro93Pro | Synonymous | 53 | Heterozygous | rs3744007 | 0.0518 |
XIAP:c.*12A > G | NC_000023.10:g.123041043 | – | Non-coding region | 51 | Heterozygous | rs28382740 | 0.2695 |
UNC13D:c.2709 + 1G > A | NC_000017.10:73826658 | – | Splicing | 49 | Heterozygous | not applicable | not applicable |
UNC13D:c.2206C > T | NC_000017.10:73830498 | p.Gln736X | Nonsense | 48 | Heterozygous | not applicable | not applicable |