Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.46726563C>T | CA123003 | F2 | c.940C>T (p.Arg314Cys) c.910C>T (p.Arg304Cys) c.892C>T (p.Arg298Cys) n.984C>T n.975C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.46726563C>A | CA380266730 | F2 | c.940C>A (p.Arg314Ser) c.910C>A (p.Arg304Ser) c.892C>A (p.Arg298Ser) n.984C>A n.975C>A | ClinVar dbSNP gnomAD v4 |
11 | g.46726563C= | CA1969072750 | F2 | c.940C= (p.Arg314=) c.910C= (p.Arg304=) c.892C= (p.Arg298=) n.984C= n.975C= | dbSNP |