| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.68189064C>G | CA5522883 | MYPN | c.2038C>G (p.Arg680Gly) c.2917C>G (p.Arg973Gly) c.2863C>G (p.Arg955Gly) c.*126C>G (n.*126C>G) c.*2134C>G (n.*2134C>G) c.1981C>G (p.Arg661Gly) n.2290C>G n.2992C>G c.2893C>G (p.Arg965Gly) c.2941C>G (p.Arg981Gly) c.1741C>G (p.Arg581Gly) n.2400C>G n.2937C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.68189064C>T | CA238422 | MYPN | c.2038C>T (p.Arg680Trp) c.2917C>T (p.Arg973Trp) c.2863C>T (p.Arg955Trp) c.*126C>T (n.*126C>T) c.*2134C>T (n.*2134C>T) c.1981C>T (p.Arg661Trp) n.2290C>T n.2992C>T c.2893C>T (p.Arg965Trp) c.2941C>T (p.Arg981Trp) c.1741C>T (p.Arg581Trp) n.2400C>T n.2937C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |