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Table 2 Sequencing summary

From: Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing

Measure Value
No. of genes 30
No. of exons 462
No. of amplicons 690
Total no. of variants 433
   Deletions 11
   Insertions 7
   SNVs 415
Noncoding 240
   Intron variant 212
   Splice region variant 19
   3′ UTR variant 5
   5′ UTR variant 4
Synonymous 105
Nonsynonymous 88
   Missense variant 79
   Stop gain variant 6
   Frameshift variant 3
No. of known dbSNPs 293
No. of novel variants 140
  1. SNVs, single-nucleotide variants.