Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| BCOR | chrX:39923059 | chrX:40063806 | c.3547C>T | p.R1183* | Pathogenic |
| BCOR | chrX:39921528 | chrX:40062275 | c.4190C>A | p.S1397Y | VUS |
| BCOR | chrX:39914723 | chrX:40055470 | c.4537C>T | p.R1513* | Pathogenic |
| BCOR | chrX:39911649 | chrX:40052396 | c.4879C>T | p.R1627* | Pathogenic |