Table 2 Variants filtered based on a MAF < 1% in Exomes and Genomes in 84 known genes associated with cardiomyopathy for patient MR38
From: Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases
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 | Not provided, 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 |