Table 5.
Chrom | POS (GRCh37) | REF | Alt | Amino Acid Change | Het OR Hom | ACMG Interpretation | Categories | Rs Number |
---|---|---|---|---|---|---|---|---|
chr16 | 9858173 | G | T | p.Asn1076Lys | het | Benign | BA1, BS2, BP4, BP6 | rs61758995 |
chr16 | 9858173 | G | T | p.Asn1076Lys | het | Benign | BA1, BS2, BP4, BP6 | rs61758995 |
chr16 | 9934641 | G | T | p.Ala505Glu | het | VUS | PM2, PM1 | |
chr16 | 9934969 | G | A | het | Benign | BA1, BS2, BP4, BP6 | rs7193290 | |
chr16 | 10031844 | G | C | p.Pro327Ala | het | Likely Benign | PM2, BS2, BP4 | rs771168389 |
chr16 | 10031844 | G | C | p.Pro327Ala | het | Likely Benign | PM2, BS2, BP4 | rs771168389 |
chr16 | 10032161 | T | C | p.Lys221Arg | het | Benign | BA1, BS2, BP6 | rs61731464 |