Gene-exon | Position | Type | Zygosity | Reference | Variant | Frequency of variant | Coverage | aID in dbSNP | Allele Frequency in gnomAD |
---|---|---|---|---|---|---|---|---|---|
PRF1-Exon3 | c.900C > T | synonymous mutation | Heterozygous | G | A | 50.3 | 500 | rs885822 | 0.6403 |
UNC13D-exon15 | c.1299-1G > A | Splicing | Heterozygous | C | T | 49.3 | 800 | novel | Unknown |
UNC13D-intron28 | c.2709 + 1G > A | Splicing | Heterozygous | C | T | 47.8 | 1000 | novel | Unknown |
STX11-exon2 | c.a 70G > A | non-coding region | Heterozygous | G | A | 53.7 | 500 | rs3734228 | 0.1166 |