Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.1882669C>T | CA115598 | ARHGEF10 | c.995C>T (p.Thr332Ile) c.1523C>T c.*949C>T (n.*949C>T) c.263C>T (p.Thr88Ile) c.1070C>T (p.Thr357Ile) c.881C>T (p.Thr294Ile) n.691C>T c.14C>T (p.Thr5Ile) n.719C>T c.998C>T (p.Thr333Ile) c.878C>T (p.Thr293Ile) c.953C>T (p.Thr318Ile) c.1082C>T (p.Thr361Ile) | ClinVar dbSNP gnomAD v4 |
8 | g.1882669C= | CA1757727673 | ARHGEF10 | c.995C= (p.Thr332=) c.1523C= c.*949C= (n.*949C=) c.263C= (p.Thr88=) c.1070C= (p.Thr357=) c.881C= (p.Thr294=) n.691C= c.14C= (p.Thr5=) n.719C= c.998C= (p.Thr333=) c.878C= (p.Thr293=) c.953C= (p.Thr318=) c.1082C= (p.Thr361=) | dbSNP |