| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44876039dup | CA275517 | EFTUD2 | c.764dup (p.Cys256ValfsTer6) c.659dup (p.Cys221ValfsTer6) n.97dup c.734dup (p.Cys246ValfsTer6) n.385dup n.849dup n.845dup | ClinVar dbSNP |
| 17 | g.44876039A= | CA2261596083 | EFTUD2 | c.764T= (p.Val255=) c.659T= (p.Val220=) n.97T= c.734T= (p.Val245=) n.385T= n.849T= n.845T= | dbSNP dbSNP |