Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.39341276G>A | CA127040 | C9 | c.274C>T (p.Arg92Ter) c.346C>T (p.Arg116Ter) n.377C>T n.388C>T n.317C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.39341276G>T | CA443957101 | C9 | c.274C>A (p.Arg92=) c.346C>A (p.Arg116=) n.377C>A n.388C>A n.317C>A | dbSNP gnomAD v2 gnomAD v4 |