Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| STAG2 | chrX:123197044 | chrX:124063194 | c.1810C>T | p.R604* | Pathogenic |
| STAG2 | chrX:123197716 | chrX:124063866 | c.1840C>T | p.R614* | Pathogenic |
| STAG2 | chrX:123197044 | chrX:124047507 | c.819+2T>C | exon9 | Pathogenic |
| STAG2 | chrX:123220440 | chrX:124086590 | c.3097C>T | p.R1033* | Pathogenic |