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Table 2 Summary of the whole exome sequencing of CFTD-LVNC samples

From: Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy

Data V-1 V-4 V-1 + V-4
Mapped Reads 52,921,718 (89%) 42,081,251 (90%)  
SNV 207.784 160,388  
dbSNPs 140.798 110,677  
coding variants 25.387 24,669  
Non synonym. (NS) 13.480 13,089  
Frame-Shift 196 182  
NS after filter dbSNPs 3923 3784  
NS after filter 6 exomes* 2983 2806  
Dominant Model    93
Dominant Model + validation**    56
Dominant Model (deleterious)    1
Recessive Model homozygous   46  
Recessive Model + validation   10  
Recessive Model (deleterious)   1  
Recessive Model heterozygous   50  
Recessive Model + validation   5  
Recessive Model (deleterious)   0  
  1. SNV single nucleotide variation; *: non synonymous variants obtained after to filter with six in house genome; Dominant Model: number of gene in which at least one variant is shared between the two samples; Dominant Model + validation**: autosomal variants shared between the two samples and remaining after filtering with 1000 genome database and validated with direct sequencing; Dominant Model (deleterious): variants predicted as deleterious effect of the change with SIFT; Recessive Model: genes in which two alleles are mutated.