| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43338634G>A | CA339973584 | MPL | c.305G>A (p.Arg102His) c.284G>A (p.Arg95His) n.305G>A c.476G>A (p.Arg159His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338634G>C | CA123780 | MPL | c.305G>C (p.Arg102Pro) c.284G>C (p.Arg95Pro) n.305G>C c.476G>C (p.Arg159Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |