| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.43349307A>G | CA339987744 | MPL | c.1513A>G (p.Ser505Gly) c.1492A>G (p.Ser498Gly) n.1513A>G c.45A>G c.1684A>G (p.Ser562Gly) | dbSNP gnomAD v2 |
| 1 | g.43349307A>T | CA16602498 | MPL | c.1513A>T (p.Ser505Cys) c.1492A>T (p.Ser498Cys) n.1513A>T c.45A>T c.1684A>T (p.Ser562Cys) | ClinVar dbSNP COSMIC |
| 1 | g.43349307A>C | CA339987733 | MPL | c.1513A>C (p.Ser505Arg) c.1492A>C (p.Ser498Arg) n.1513A>C c.45A>C c.1684A>C (p.Ser562Arg) | ClinVar dbSNP |
| 1 | g.43349307A= | CA1165579968 | MPL | c.1513A= (p.Ser505=) c.1492A= (p.Ser498=) n.1513A= c.45A= c.1684A= (p.Ser562=) | dbSNP |