Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| EZH2 | chr7:148512045 | chr7:148814953 | c.1633C>T | p.Q545* | Pathogenic |
| EZH2 | chr7:148508728 | chr7:148811636 | c.1936T>C | p.Y646H | Pathogenic |
| EZH2 | chr7:148508727 | chr7:148811635 | c.1937A>T | p.Y646F | Pathogenic |
| EZH2 | chr7:148526848 | chr7:148829756 | c.456T>G | p.N152K | VUS |