Identification of a novel nonsense mutation in SH2D1A in a patient with X-linked lymphoproliferative syndrome type 1: a case report

Table 1 Identified mutations in the patient with XLP1

Gene-exon	Position	Type	Zygosity	Frequency of variant (%)	ID in dbSNP	^a Allele frequencies in 1000 Genomes
PRF1-Exon3	c.900C>T	Synonymous	Heterozygous	50	rs885822	0.6959
PRF1-Exon3	c.822C>T	Synonymous	Heterozygous	49	rs885821	0.1126
UNC13D-Exon32	c.3198A>G	Synonymous	Heterozygous	54	rs7210574	0.5262
UNC13D-Exon27	c.2599A>G	Missense	Heterozygous	46	rs1135688	0.4994
UNC13D-Exon21	c.1992+5G>A	Intron mutation	Heterozygous	55	rs17581728	0.1575
UNC13D-Exon11	c.888G>C	Synonymous	Heterozygous	51	rs7223416	0.5098
STXBP2-Exon10	c.849G>A	Synonymous	Heterozygous	47	rs34450592	0.0124
STXBP2-Exon18	c.1576A>G	Missense	Homozygous	100	rs6791	0.7061
STXBP2-Exon18	c.1663A>G	Missense	Heterozygous	65	rs61736586	0.0122
XIAP-Exon7	c.^a12A>G	Non-coding region	Hemizygote	100	rs28382740	0.2673
SH2D1A-Exon3	c.300T>A	Nonsense	Hemizygote	100	not applicable	not applicable

^a Allele frequencies were collected from The 1000 Genome Project: phase 3 (https://www.ncbi.nlm.nih.gov/variation/tools/1000genomes)

ISSN: 1471-2350