Case Reports in Genetics

Case Report

Targeted Next-Generation Resequencing of Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

Table 3

Summary of observed variants in noncoding sequences of gene in investigated proband.


Type of variant	Type of carrier	Position-R	Position-L	Reference base	Variant base	SNPs (ID)

Variants in 5′-UTR

SNP	Hom	169556050	169556051	c	t	rs2269648
SNP	Hom	169556152	169556153	g	t	New variant
INS	Het	169556812	169556812		a	rs58897818

Intronic variants

SNP	Hom	169486641	169486642	g	c	rs9332666
SNP	Hom	169490392	169490393	g	c	rs2420370
SNP	Hom	169491555	169491556	g	a	rs2420371
SNP	Hom	169496536	169496537	g	c	New variant
SNP	Hom	169498056	169498057	a	g	rs2420372
SNP	Hom	169516507	169516508	g	a	rs12046953
SNP	Hom	169517159	169517160	c	t	rs12026997
SNP	Hom	169517385	169517386	a	g	rs12044669
SNP	Hom	169517904	169517905	g	a	rs2420374
SNP	Hom	169518703	169518704	t	c	rs58875232
DEL	Het	169518885	169518886	a		rs55717622
SNP	Hom	169519417	169519418	g	a	rs7537742
SNP	Hom	169519765	169519766	a	g	rs13306331
SNP	Hom	169520098	169520099	a	g	rs10800456
SNP	Hom	169521553	169521554	g	a	rs2213868
SNP	Hom	169521733	169521734	c	t	rs9332582
SNP	Hom	169523346	169523347	a	g	rs7555832
SNP	Hom	169523389	169523390	t	c	rs11577059
SNP	Het	169523395	169523396	a	t	New variant
SNP	Het	169523396	169523397	a	g	New variant
DEL	Hom	169523397	169523398	t		rs116132528
INS	Het	169524860	169524860		cac	New variant
SNP	Het	169524865	169524866	a	g	New variant
SNP	Hom	169525312	169525313	c	t	rs9332579
INS	Het	169525558	169525558		ctctggc	rs16684
SNP	Het	169525680	169525681	c	a	rs115199761
SNP	Hom	169525766	169525767	t	c	rs2239853
INS	Hom	169526266	169526266		a	rs9332577
SNP	Hom	169526300	169526301	c	t	rs4656688
SNP	Hom	169526367	169526368	a	g	rs4656689
SNP	Hom	169526425	169526426	g	t	rs4656188
SNP	Hom	169526601	169526602	g	c	rs1894697
SNP	Hom	169526646	169526647	a	g	rs1894698
SNP	Hom	169526950	169526951	c	g	rs1894699
SNP	Hom	169527226	169527227	a	g	rs1981491
DEL	Hom	169527470	169527471	a		rs3835454
SNP	Hom	169528075	169528076	c	g	rs9332570
INS	Het	169528255	169528255		aaa	rs58738850
SNP	Hom	169528580	169528581	c	t	rs6012
SNP	Hom	169528722	169528723	c	t	rs6427201
SNP	Hom	169528830	169528831	c	t	rs6427202
SNP	Hom	169529031	169529032	a	c	rs6427203
SNP	Hom	169529132	169529133	c	t	rs6699691
SNP	Hom	169529138	169529139	c	t	rs58931047
SNP	Hom	169530070	169530071	a	c	rs7545236
SNP	Hom	169530077	169530078	g	t	rs7523043
SNP	Hom	169530093	169530094	t	c	rs7534848
SNP	Hom	169530176	169530177	c	g	rs7522982
INS	Hom	169530532	169530532		a	rs5778621; rs77192101
SNP	Hom	169530586	169530587	t	c	rs1894701
SNP	Hom	169531442	169531443	t	c	rs7540556
SNP	Hom	169531571	169531572	t	c	rs4656690
SNP	Hom	169533266	169533267	g	a	rs6678795
SNP	Hom	169533744	169533745	t	a	rs724509
SNP	Hom	169534028	169534029	t	c	rs724507
SNP	Hom	169534966	169534967	t	a	rs2040443
SNP	Hom	169535353	169535354	c	g	rs6685578
SNP	Hom	169536167	169536168	t	c	rs2213869
SNP	Hom	169536650	169536651	g	a	rs2187955
DEL	Het	169536796	169536798	tt	t	New variant
SNP	Hom	169537678	169537679	a	g	rs6670678
SNP	Hom	169538466	169538467	g	a	rs9287095
SNP	Hom	169538544	169538545	c	t	rs2298908
SNP	Hom	169538603	169538604	t	g	rs2298906
SNP	Hom	169539348	169539349	t	g	rs6663533
SNP	Hom	169543263	169543264	c	a	rs10800457
SNP	Hom	169545413	169545414	a	g	rs6677374
SNP	Hom	169549775	169549776	t	c	rs10753787
INS	Het	169551560	169551560		a	rs56901113
SNP	Hom	169554058	169554059	c	g	rs3753305

Variants in 3′-UTR

SNP	Hom	169479974	169479975	c	t	rs970740

Hom: homozygote, Het: heterozygote, SNP: single-nucleotide polymorphism, Del: deletion, and Ins: insertion