| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48136683G>A | CA10602372 | MYEF2,SLC24A5 | c.*6225C>T (n.*6225C>T) c.591G>A (p.Trp197Ter) c.411G>A (p.Trp137Ter) n.351G>A c.612G>A (p.Trp204Ter) c.*6380C>T (n.*6380C>T) c.345G>A (p.Trp115Ter) c.252G>A (p.Trp84Ter) | ClinVar dbSNP |
| 15 | g.48136683G= | CA2175374981 | MYEF2,SLC24A5 | c.*6225C= (n.*6225C=) c.591G= (p.Trp197=) c.411G= (p.Trp137=) n.351G= c.612G= (p.Trp204=) c.*6380C= (n.*6380C=) c.345G= (p.Trp115=) c.252G= (p.Trp84=) | dbSNP |