| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43339435C>A | CA806700 | MPL | c.556C>A (p.Gln186Lys) c.535C>A (p.Gln179Lys) n.556C>A c.727C>A (p.Gln243Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43339435C>T | CA123771 | MPL | c.556C>T (p.Gln186Ter) c.535C>T (p.Gln179Ter) n.556C>T c.727C>T (p.Gln243Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.43339435C>G | CA806699 | MPL | c.556C>G (p.Gln186Glu) c.535C>G (p.Gln179Glu) n.556C>G c.727C>G (p.Gln243Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43339435C= | CA1141580747 | MPL | c.556C= (p.Gln186=) c.535C= (p.Gln179=) n.556C= c.727C= (p.Gln243=) | dbSNP |