| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3493364del | CA549706293 | DOK7 | c.1378del (p.Gln460ArgfsTer?) c.946del (p.Gln316ArgfsTer?) c.*599del (n.*599del) n.570del n.1146del c.448del (p.Gln150ArgfsTer?) c.964del (p.Gln322ArgfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.3493364dup | CA251742 | DOK7 | c.1378dup (p.Gln460ProfsTer?) c.946dup (p.Gln316ProfsTer?) c.*599dup (n.*599dup) n.570dup n.1146dup c.448dup (p.Gln150ProfsTer?) c.964dup (p.Gln322ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |