Table 3.

Family sequencing for genotype of the WRAP53 gene.

Level	Evidence	Ref	Alt	ExonicFunc	dbsnp	Exon	hgvs.c	hgvs.p	Patient	Father	Mother
Benign	ba1 bp6 bp4	C	G	Non-synonymous SNV	rs2287499	Exon1	c.202C>G	p.R68G	Het	Het	Hom
Benign	ba1 bp6 bp7	C	T	Synonymous SNV	rs2287498	Exon2	c.450C>T	p.F150F	Het	Het	Hom
Benign	pm1 ba1 bp6 bp4	C	G	Non-synonymous SNV	rs7640	Exon10	c.1565C>G	p.A522G	Het	Het	Hom
Likely pathogenic	pvs1 pm2	TCTC	–	Frameshift deletion	–	Exon1	c.224_227del	p.L75Pfs*14	Het	–	Het
Likely pathogenic	pvs1 pm2	G	–	Frameshift deletion	rs1085307105	Exon10	c.1564del	p.A522Rfs*26	Het	Het	–
dbsnp	1,000g2015 aug_all	1,000g2015 aug_eas	BerryAF	ExAC_ALL	ExAC_EAS	gnomAD_exome _ALL	gnomAD_exome_ AFpopmax	gnomAD_ exome_EAS
rs2287499	0.406749	0.2996	0.266271	0.212	0.294595	0.199237	0.773168	0.309216
rs2287498	0.222244	0.2996	0.213251	0.133	0.293566	0.130306	0.308395	0.308395
rs7640	0.511182	0.4077	0.187613	0.313	0.412544	0.299461	0.824941	0.420597
							0.000163114	.
rs1085307105				0.0001483			0.00119956	.