Table 3.
Details of the 3 Prioritized Variants With Reduced Cosegregation
| Pedigree | Chr | Position | Variant | Gene | Exon | HGVSp | MAC | MPC | CADD | SIFT | PolyPhen2 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| K1546 | 3 | 1,036,0021 | G > A | ATP2B2 | 13/23 | R588C | 1 | 2.23 | 31.0 | Damaging | Deleterious |
| K1524 | 10 | 99,610,923 | T > C | SLC25A28 | 4/4 | I341V | 0 | 2.11 | 25.6 | Damaging | Deleterious |
| K1494 | 19 | 42,232,651 | A > G | GSK3A | 9/11 | I377T | 0 | 2.39 | 26.9 | Damaging | Deleterious |
Positions are given on GRCh38. Included are the protein sequence ID (HGVSp), the MAC from gnomAD (exome), and several deleteriousness prediction metrics.
Chr, chromosome; MAC, minor allele count; MPC, missense badness, PolhPhen2, and constraint.