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Table 6 Variations in candidate cardiomyopathy genes

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

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
  1. 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.