| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.43038949G>T | CA450259482 | CUL7 | n.2404C>A c.4333C>A (p.Arg1445=) n.731C>A c.*989C>A (n.*989C>A) n.5062C>A c.*2630C>A (n.*2630C>A) n.4616C>A n.4910C>A c.346C>A (p.Arg116=) c.2204C>A n.5172C>A c.4429C>A (p.Arg1477=) c.2825C>A c.4585C>A (p.Arg1529=) c.4489C>A (p.Arg1497=) c.2194C>A (p.Arg732=) c.4612C>A (p.Arg1538=) c.4516C>A (p.Arg1506=) c.4456C>A (p.Arg1486=) c.4360C>A (p.Arg1454=) c.4330C>A (p.Arg1444=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.43038949G>A | CA251897 | CUL7 | n.2404C>T c.4333C>T (p.Arg1445Ter) n.731C>T c.*989C>T (n.*989C>T) n.5062C>T c.*2630C>T (n.*2630C>T) n.4616C>T n.4910C>T c.346C>T (p.Arg116Ter) c.2204C>T n.5172C>T c.4429C>T (p.Arg1477Ter) c.2825C>T c.4585C>T (p.Arg1529Ter) c.4489C>T (p.Arg1497Ter) c.2194C>T (p.Arg732Ter) c.4612C>T (p.Arg1538Ter) c.4516C>T (p.Arg1506Ter) c.4456C>T (p.Arg1486Ter) c.4360C>T (p.Arg1454Ter) c.4330C>T (p.Arg1444Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |