Variant Information
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
CSF3R | chr1:36933434 | chr1:36467833 | c.1853C>T | p.T618I | Pathogenic |
CSF3R | chr1:36932224 | chr1:36466623 | c.2245C>T | p.Q749* | Pathogenic |
CSF3R | chr1:36940984 | chr1:36475383 | c.355G>A | p.A119T | VUS |