Variant class | Number of variants |
---|
Missense | 105 |
Intronic | 32 |
Synonymous | 33 |
Splice Site | 18 |
Nonsense | 11 |
Promoter | 3 |
Total
|
184
|
- Number of variants assigned to each of six possible classifications. Some variants were assigned to multiple classes (i.e. intronic and splice site). Promoter variants are variants upstream of the translational start site, and a splice site variant is a variant located in one of the four positions flanking exon/intron (and intron/exon) boundaries.