| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421425T>C | CA217018 | DES | n.583T>C n.497T>C c.1109T>C (p.Leu370Pro) n.581T>C n.504T>C c.1106T>C (p.Leu369Pro) c.736-59T>C (n.736-59T>C) c.1040T>C (p.Leu347Pro) c.1088T>C (p.Leu363Pro) c.839T>C (p.Leu280Pro) | ClinVar dbSNP |
| 2 | g.219421425T= | CA1329211279 | DES | n.583T= n.497T= c.1109T= (p.Leu370=) n.581T= n.504T= c.1106T= (p.Leu369=) c.736-59T= (n.736-59T=) c.1040T= (p.Leu347=) c.1088T= (p.Leu363=) c.839T= (p.Leu280=) | dbSNP |