| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43349338G>A | CA339988074 | MPL | c.1544G>A (p.Trp515Ter) c.1523G>A (p.Trp508Ter) n.1544G>A c.76G>A c.1715G>A (p.Trp572Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.43349338G>T | CA123792 | MPL | c.1544G>T (p.Trp515Leu) c.1523G>T (p.Trp508Leu) n.1544G>T c.76G>T c.1715G>T (p.Trp572Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.43349338G>C | CA21612475 | MPL | c.1544G>C (p.Trp515Ser) c.1523G>C (p.Trp508Ser) n.1544G>C c.76G>C c.1715G>C (p.Trp572Ser) | ClinVar dbSNP gnomAD v4 COSMIC |