312 B
312 B
| 1 | #CHROM | POS | REF | ALT | SYMBOL | Consequence | Protein_position | PolyPhen | SIFT | CLIN_SIG | AF | gnomAD_AF | SpliceAI | CADD_PHRED |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2 | 1 | 123456 | A | T | GJB2 | missense_variant | p.Val37Ile | benign | tolerated | Benign | 0.012 | 0.012 | 0.02 | 5.1 |
| 3 | 2 | 234567 | G | C | OTOF | stop_gained | p.* | probably_damaging | deleterious | Uncertain_significance | 0.0001 | 0.0001 | 0.6 | 28.5 |