Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

Table 6 Variations in candidate cardiomyopathy genes

Gene symbol	Chromosome	Reference position	AA exchange	Reference allele	Variant allele	Confirmed by sanger sequencing	Huvariome alleles	Known pathological variant	Gene strand	HGMD
LMNA	1	154372340	R>Stop	C	T	Yes	C/C	R321ter	+	Cardiomyopathy,_dilated\|961C>T
TNNT2	1	199599130	E163fs	C	--	No	C/C		--	Cardiomyopathy,_hypertrophic\|487G>A
SMYD2	1	212558105	H>Y	C	T	Yes	C/C
DSP	6	7525794	R>G	C	G	No	C/C			Arrhythmogenic_right_ventricular_dysplasia/ cardiomyopathy\|4372C>G
TMEM2	9	73505380	T>T	C	T	Yes	C/C
ILK	11	6585971	P>L	C	T	No	C/C			Cardiomyopathy,_dilated\|209C>T
MYBPC3	11	47324447	R>Q	C	T	Yes	C/C	R326Q	--	Cardiomyopathy,_hypertrophic\|977G>A
MYBPC3	11	47313209-47313210	P955fs	CT	--	Yes	AG/AG	P955fs		Cardiomyopathy,_hypertrophic\|2864_2865delCT
MYBPC3	11	47321263-47321264	F412fs	TT	--	Yes	AA/AA	F412fs		Cardiomyopathy,_hypertrophic\|1235_1236delTT
MYH7	14	22963165	C905fs	G	--	No	A/A
MYH7	14	22968054	R>C	G	A	Yes	G/G	R453C	--	Cardiomyopathy,_hypertrophic\|1357C>A
MYH7	14	22971706	Y>H	A	G	Yes	A/A			Cardiomyopathy,_hypertrophic\|484T>C
MYH7	14	22971762	R>Q	C	T	Yes	C/C	R143Q	--	Cardiomyopathy,_hypertrophic\|428G>A

Genomic nucleotide positions 1-based (Reference Position), nucleotides (Reference and Variant Alleles), and Confirmation by Sanger Sequencing are determined by Meder et al. 2011 [25]. Huvariome alleles are represented with the NCBI build 36 reference allele first in the pair (e.g. T/C with T from NCBI build 36). Variants that have previously been found to be associated with cardiomyopathy are denoted by Known Pathological Variant [25] and cardiomyopathy variations derived from the professional edition of Human Gene Mutation Database (HGMD) were supplied by Biobase. The HGMD descriptions in bold are linked to the first being described by Meder et al. 2011 [25] as related to dilated or hypertrophic cardiomyopathy.