Variant Information
Gene | Coordinates (GRCh37) | Coordinates (GRCh38) | Nucleotide | Protein | Interpretation |
---|---|---|---|---|---|
NPM1 | chr5:170837546 | chr5:171410542 | c.863_864insGCAG | p.W290Afs*>7 | Pathogenic |
NPM1 | chr5:170837543 | chr5:171410539 | c.863_864insTCTG | p.W288Cfs*12 | Pathogenic |
NPM1 | chr5:170837545 | chr5:171410541 | c.863_864insTGTA | p.W288Cfs*12 | Pathogenic |
NPM1 | chr5:170837551 | chr5:171410547 | c.868_869insTCCCTT | p.Q289_W290insSL | Pathogenic |
NPM1 | chr5:170837552 | chr5:171410548 | c.869_873delinsCCCTTTCCA | p.W290fs*9 | Pathogenic |