| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.62555911del | CA10575641 | DOCK7 | c.2510del (p.Asp837AlafsTer?) c.*630del (n.*630del) c.2186del (p.Asp729AlafsTer?) c.329del (p.Asp110AlafsTer?) c.364del | ClinVar dbSNP |
| 1 | g.62555911T= | CA3071758711 | DOCK7 | c.2510A= (p.Asp837=) c.*630A= (n.*630A=) c.2186A= (p.Asp729=) c.329A= (p.Asp110=) c.364A= | dbSNP |