Table 1 Identified KCNQ1 variants using targeted NGS.

#ID	GRCh38	GRCh37	Coding DNA	Protein	Location	Zygosity	Reads	SNP ID	AF gnomAD	ClinVar
#ID	NC_000011.10	NC_000011.9	NM_000218.2	NP_000209.2	Location	Zygosity	Reads	SNP ID	AF gnomAD	ClinVar
#1	g.2572105 G > T	g.2593335 G > T	c.776 G > T	p.Arg259Leu	E5	HTZ	320	rs199472720	T = NA^a	P
#1	g.2572105 G > T	g.2593335 G > T	c.776 G > T	p.Arg259Leu	E5	HTZ	320	rs199472720	A = 0.0000181	P/LP
#2	g.2768626 A > G	g.2789856 A > G	c.1515 − 218 A > G		i11	HZ	28	rs163161	G = 0.9952	B
#3	g.2768789 G > A	g.2790019 G > A	c.1515 − 55 G > A		i11	HTZ	255	rs2075870	A = 0.05429	NA
#4	g.2776007 G > A	g.2797237 G > A	c.1638G > A	p.(Ser546 = )	E13	HTZ	365	rs1057128	A = 0.2018	B
#5	g.2776075 G > A	g.2797305 G > A	c.1685 + 21 G > A		i13	HTZ	229	rs376557660	A = 0.0004125	NA
#6	g.2776090 A > G	g.2797320 A > G	c.1685 + 36 A > G		i13	HTZ	186	rs163150	G = 0.6682	NA
#7	g.2776200 G > C	g.2797430 G > C	c.1685 + 146 G > C		i13	HTZ	29	rs163149	C = 0.4947	NA
#8	g.2776977 T > C	g.2798207 T > C	c.1686 − 9 T > C		i13	HTZ	291	NA	NA	NA
#9	g.2777218 A > G	g.2798448 A > G	c.1732 + 186 A > G		i14	HZ	36	rs163148	G = 0.9979	B
#10	g.2847648 T > C	g.2868878 T > C	c.1795 − 119 T > C		i15	HTZ	92	rs3852520	C = 0.3997	B

#ID—Unique tag ID number assigned to each variant. The corresponding genomic (GRCh38 and GRCh37 assembly versions), coding DNA and protein NCBI Reference Sequences are indicated. Location—the exon (E) or intron (i) number are indicated.
HZ homozygous, HTZ heterozygous, Reads number of NGS reads covering the variant position, AF gnomAD population frequency in the gnomAD database, ClinVar ClinVar variant interpretation category, P Pathogenic, P/LP Pathogenic/Likely pathogenic, B Benign, NA not available.
^aThe population frequency for the G > T substitution is not available in gnomAD, the frequency of the G > A variant is shown. Although both variants share a common SNP ID (rs199472720), the G > A nucleotide change leads to a different amino acid substitution, p.Arg259His.

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