| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43338136G>C | CA339972642 | MPL | c.117G>C (p.Lys39Asn) c.96G>C (p.Lys32Asn) n.117G>C c.288G>C (p.Lys96Asn) | dbSNP |
| 1 | g.43338136G>T | CA123787 | MPL | c.117G>T (p.Lys39Asn) c.96G>T (p.Lys32Asn) n.117G>T c.288G>T (p.Lys96Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.43338136G= | CA1140466583 | MPL | c.117G= (p.Lys39=) c.96G= (p.Lys32=) n.117G= c.288G= (p.Lys96=) | dbSNP |