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 |