Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.43338669G>A | CA160821 | MPL | c.340G>A (p.Val114Met) c.319G>A (p.Val107Met) n.340G>A c.511G>A (p.Val171Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.43338669G>C | CA339973807 | MPL | c.340G>C (p.Val114Leu) c.319G>C (p.Val107Leu) n.340G>C c.511G>C (p.Val171Leu) | dbSNP |