| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.62625399G>T | CA418006031 | DOCK7 | c.991C>A (n.991C>A) c.1285C>A (p.Arg429=) c.218C>A c.961C>A (p.Arg321=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.62625399G>A | CA16603223 | DOCK7 | c.991C>T (n.991C>T) c.1285C>T (p.Arg429Ter) c.218C>T c.961C>T (p.Arg321Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |