| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.3485607C>G | CA2829079 | DOK7 | c.601C>G (p.Arg201Gly) c.169C>G (p.Arg57Gly) n.234C>G c.590C>G (p.Pro197Arg) n.259C>G n.369C>G c.-330C>G (n.-330C>G) c.187C>G (p.Arg63Gly) | dbSNP ExAC gnomAD v2 |
| 4 | g.3485607C>T | CA251739 | DOK7 | c.601C>T (p.Arg201Ter) c.169C>T (p.Arg57Ter) n.234C>T c.590C>T (p.Pro197Leu) n.259C>T n.369C>T c.-330C>T (n.-330C>T) c.187C>T (p.Arg63Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |