| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43340096C>A | CA123785 | MPL | c.823C>A (p.Pro275Thr) c.802C>A (p.Pro268Thr) n.823C>A c.994C>A (p.Pro332Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43340096C>T | CA339976959 | MPL | c.823C>T (p.Pro275Ser) c.802C>T (p.Pro268Ser) n.823C>T c.994C>T (p.Pro332Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.43340096C= | CA1140495614 | MPL | c.823C= (p.Pro275=) c.802C= (p.Pro268=) n.823C= c.994C= (p.Pro332=) | dbSNP |