| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.62494443del | CA16621566 | DOCK7 | c.5049del (p.Pro1684GlnfsTer5) n.1459del c.*3142del (n.*3142del) c.2322del (p.Pro775GlnfsTer5) c.5022del (p.Pro1675GlnfsTer5) c.4956del (p.Pro1653GlnfsTer5) n.856del c.4929del (p.Pro1644GlnfsTer5) | ClinVar dbSNP |
| 1 | g.62494443A= | CA3071928959 | DOCK7 | c.5049T= (p.Ser1683=) n.1459T= c.*3142T= (n.*3142T=) c.2322T= (p.Ser774=) c.5022T= (p.Ser1674=) c.4956T= (p.Ser1652=) n.856T= c.4929T= (p.Ser1643=) | dbSNP |