Table 1 The functional annotation genetic variants by Annovar
From: The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan
Genomic region | No. of variants |
|---|---|
Exonic | 127 |
Intronic | 122 |
Splicing region | 01 |
Downstream | 02 |
UTR5 | 02 |
UTR3 | 11 |
Functional Impact | |
 Nonsynonymous | 62 |
 Synonymous | 54 |
 Stop-gain | 02 |
 Splicing | 01 |
 Frameshift insertion | 07 |
 Non-frameshift insertion | 01 |
 Non-frameshift deletion | 01 |