| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.219421470T>C | CA217023 | DES | n.628T>C n.542T>C c.1154T>C (p.Leu385Pro) n.626T>C n.549T>C c.1151T>C (p.Leu384Pro) c.736-14T>C (n.736-14T>C) c.1085T>C (p.Leu362Pro) c.1133T>C (p.Leu378Pro) c.884T>C (p.Leu295Pro) | ClinVar dbSNP |
| 2 | g.219421470T= | CA1329211307 | DES | n.628T= n.542T= c.1154T= (p.Leu385=) n.626T= n.549T= c.1151T= (p.Leu384=) c.736-14T= (n.736-14T=) c.1085T= (p.Leu362=) c.1133T= (p.Leu378=) c.884T= (p.Leu295=) | dbSNP |