A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

Table 1 Non-coding SNVs in the lung-specific enhancer region, identified in the newborn (P094) with 17q23.1q23.2 CNV deletion and lethal lung disease and absent in the control individuals with the same deletion but without lung abnormalities

Position [hg19]	rs^a	Ref	Alt	MAF^b	Alt allele count/ Allele number	Previous appearance (number of individuals)^c
chr17:59278456–59,278,456	rs532804594	TAAGA	–	0.0008	24/31346	0
chr17:59345202–59,345,202	rs117665209	C	T	0.0167	527/31326	0
chr17:59361129–59,361,129	rs72277620	A	–	0.0142	443/31042	0
chr17:59390028–59,390,028	rs769013747	CTGGTTTCCATGCC	–	0.0003	9/31400	0
chr17:59408341–59,408,341	rs3785850	G	A	0.1219	3819/31378	2
chr17:59420152–59,420,152	rs35383405	G	T	0.1169	3/29938	1
chr17:59422277–59,422,277	rs143541906	T	TAC	0.0937	2862/30240	1

Abbreviations are as follows: +, present; −, absent; Alt altered allele, MAF, minor allele frequency, NA not applicable, Ref reference allele, ^ars numbers based on dbSNP v.150; ^bMAF and allele number based on the GnomAD database (r2.0.2); ^cNumber of previously reported LLDD individuals with 17q23.1q23.2 CNV deletion and given non-coding variant

ISSN: 1755-8794