Variant Information
| Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
|---|---|---|---|---|---|
| MPL | chr1:43814979 | chr1:43349308 | c.1514G>A | p.S505N | Pathogenic |
| MPL | chr1:43815008 | chr1:43349337 | c.1543T>G | p.W515G | Pathogenic |
| MPL | chr1:43815009 | chr1:43349338 | c.1544G>C | p.W515S | Pathogenic |