| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43349267G>C | CA339987349 | MPL | c.1473G>C (p.Trp491Cys) c.1452G>C (p.Trp484Cys) n.1473G>C c.5G>C c.1644G>C (p.Trp548Cys) | ClinVar dbSNP |
| 1 | g.43349267G>A | CA123782 | MPL | c.1473G>A (p.Trp491Ter) c.1452G>A (p.Trp484Ter) n.1473G>A c.5G>A c.1644G>A (p.Trp548Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43349267G= | CA1141580749 | MPL | c.1473G= (p.Trp491=) c.1452G= (p.Trp484=) n.1473G= c.5G= c.1644G= (p.Trp548=) | dbSNP |