| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48134940T>A | CA16042928 | MYEF2,SLC24A5 | c.*7968A>T (n.*7968A>T) c.546T>A (p.Ser182Arg) c.366T>A (p.Ser122Arg) n.306T>A c.567T>A (p.Ser189Arg) c.*8123A>T (n.*8123A>T) c.300T>A (p.Ser100Arg) c.207T>A (p.Ser69Arg) | ClinVar dbSNP |
| 15 | g.48134940T= | CA2175374248 | MYEF2,SLC24A5 | c.*7968A= (n.*7968A=) c.546T= (p.Ser182=) c.366T= (p.Ser122=) n.306T= c.567T= (p.Ser189=) c.*8123A= (n.*8123A=) c.300T= (p.Ser100=) c.207T= (p.Ser69=) | dbSNP |