Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.214657274A>C | CA423429891 | CENPF | c.8650A>C (p.Arg2884=) n.926A>C c.8827A>C (p.Arg2943=) n.598A>C c.7762A>C (p.Arg2588=) | dbSNP |
1 | g.214657274A>T | CA344857301 | CENPF | c.8650A>T (p.Arg2884Ter) n.926A>T c.8827A>T (p.Arg2943Ter) n.598A>T c.7762A>T (p.Arg2588Ter) | dbSNP |
1 | g.214657274A>G | CA1391504 | CENPF | c.8650A>G (p.Arg2884Gly) n.926A>G c.8827A>G (p.Arg2943Gly) n.598A>G c.7762A>G (p.Arg2588Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |