| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.62529349G>A | CA163243 | DOCK7 | c.3709C>T (p.Arg1237Ter) c.*1829C>T (n.*1829C>T) c.1009C>T (p.Arg337Ter) c.3616C>T (p.Arg1206Ter) | ClinVar dbSNP |
| 1 | g.62529349G= | CA1148224363 | DOCK7 | c.3709C= (p.Arg1237=) c.*1829C= (n.*1829C=) c.1009C= (p.Arg337=) c.3616C= (p.Arg1206=) | dbSNP |