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. 2019 Feb 14;12:33. doi: 10.1186/s12920-019-0478-7

Table 4.

Variants filtered based on a MAF < 1% in Exomes and Genomes in 84 known genes associated with cardiomyopathy for patient MR41

Variant Chromosome RS ID Type Zygosity Genes Phenotypes Function Coding impact ClinVar class Exome Frequency 1000Genomes Coverage
chr10:69959174 C ⇒ T chr10 rs71534278 SNV Heterozygous MYPN non-coding exon,coding missense Notprovided,NA,Pathogenic,Likely Benign 0.0030344 0.00259585 31
chr2:179433611 G ⇒ A chr2 SNV Heterozygous MIR548N,TTN,TTN-AS1 coding,intronic nonsense 227
chr6:112460443 C ⇒ T chr6 rs782592337 SNV Heterozygous LAMA4 coding missense 8.23764E-06 137
chr2:179659806 G ⇒ A chr2 rs199590524 SNV Heterozygous TTN coding missense 4.94438E-05 123