| VCF | Variant Call Format. Here, ClinVar GRCh38 VCF rows are public variant records, not a patient cohort. |
| ClinVar P/LP record | A ClinVar record annotated as pathogenic or likely pathogenic in the primary analysis. |
| MANE Select | The representative transcript anchor used to place records onto a transcript model. |
| GENCODE | The transcript-structure annotation used for exon, CDS, and UTR intervals. |
| Transcript unit | A single-exon, adjacent exon-block, or downstream-CDS replacement hypothesis. |
| ClinVar record coverage | k/N for a unit: addressed P/LP records divided by total gene-level P/LP records. |
| Donor payload | The sequence length the donor would need to carry for the transcript-unit hypothesis. |
| Low-record-burden | A gene with fewer than 20 ClinVar P/LP records; computed but interpretation-limited. |