Table 5.
Impact | n. | % | Effect | n. | % |
---|---|---|---|---|---|
High | 3 | 5.9 | stop_lost | 2 | 3.9 |
stop_gained | 1 | 2.0 | |||
Moderate | 25 | 49.0 | missense_variant | 25 | 49.0 |
Low | 5 | 9.8 | synonymous_variant | 4 | 7.8 |
splice_region_variant&intron_variant | 1 | 2.0 | |||
Modifier | 18 | 35.3 | intergenic_region | 10 | 19.6 |
intron_variant | 7 | 13.7 | |||
non_coding_transcript_exon_variant | 1 | 2.0 |