Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| JAK2 | chr9:5073770 | chr9:5073770 | c.1849G>T | p.V617F | Pathogenic |
| JAK2 | chr9:5078360 | chr9:5078360 | c.2047A>G | p.R683G | Pathogenic |
| JAK2 | chr9:5078362 | chr9:5078362 | c.2049A>C | p.R683S | Pathogenic |