| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.62457653C>A | CA163245 | DOCK7 | n.2406G>T c.6265G>T (p.Glu2089Ter) n.5944G>T c.3532G>T (p.Glu1178Ter) c.6238G>T (p.Glu2080Ter) c.6172G>T (p.Glu2058Ter) c.6232G>T (p.Glu2078Ter) c.6145G>T (p.Glu2049Ter) n.951G>T c.6139G>T (p.Glu2047Ter) n.1547G>T c.6259G>T (p.Glu2087Ter) c.6250G>T (p.Glu2084Ter) c.6166G>T (p.Glu2056Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.62457653C= | CA1148224357 | DOCK7 | n.2406G= c.6265G= (p.Glu2089=) n.5944G= c.3532G= (p.Glu1178=) c.6238G= (p.Glu2080=) c.6172G= (p.Glu2058=) c.6232G= (p.Glu2078=) c.6145G= (p.Glu2049=) n.951G= c.6139G= (p.Glu2047=) n.1547G= c.6259G= (p.Glu2087=) c.6250G= (p.Glu2084=) c.6166G= (p.Glu2056=) | dbSNP |