Table 1.
Potential pathogenic variants detected in CPSF1 (NM_013291.3)
| ID | Chr | Position | Nucleotide change | Effect | Status | PPH2/SS | SIFT | PROVEAN | 1000G | EVS | GnomAD | Control | Known |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HM337 | Chr8 | 145623728 | c.1858C>T | p.Q620* | Het | NA | NA | NA | None | None | None | 0/5314 | Novel |
| HM635 | Chr8 | 145619251 | c.3862_3871dup | p.F1291* | Het | NA | NA | NA | None | None | None | 0/5314 | Novel |
| HM653 | Chr8 | 145621815 | c.2823_2824del | p.V943Lfs*65 | Het | NA | NA | NA | None | None | None | 0/5314 | Novel |
| HM693 | Chr8 | 145634528 | c.15C>G | p.Y5* | Het | NA | NA | NA | None | None | None | 0/5314 | Novel |
| HM943 | Chr8 | 145619364 | c.3823G>T | p.D1275Y and splicing | Het | PrD | D | D | None | None | None | 0/5314 | Novel |
| HM949 | Chr8 | 145618807 | c.4146-2A>G | Splicing acceptor | Het | SSA | NA | NA | None | None | 1/229918 | 0/5314 | Known |
Abbreviations: Het, heterozygous; del, deletion; dup, duplication; PrD, probably damaging; SSA, splicing acceptor; D, damaging; 1000G, 1000 Genomes; EVS, Exome Variant Server; GnomAD, genome aggregation database; NA, not applicable.