| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.35103298G>T | CA499730475 | RAD51D | c.559C>A (p.Arg187=) c.337C>A (p.Arg113=) c.754C>A (p.Arg252=) c.694C>A (p.Arg232=) c.358C>A (p.Arg120=) c.163C>A (p.Arg55=) c.*425C>A (n.*425C>A) c.*288C>A (n.*288C>A) c.*434C>A (n.*434C>A) c.*177C>A (n.*177C>A) c.*290C>A (n.*290C>A) c.700C>A (p.Arg234=) c.217C>A (p.Arg73=) n.831C>A n.696C>A n.446C>A n.720C>A n.585C>A | ClinVar dbSNP |
| 17 | g.35103298G>C | CA399087669 | RAD51D | c.559C>G (p.Arg187Gly) c.337C>G (p.Arg113Gly) c.754C>G (p.Arg252Gly) c.694C>G (p.Arg232Gly) c.358C>G (p.Arg120Gly) c.163C>G (p.Arg55Gly) c.*425C>G (n.*425C>G) c.*288C>G (n.*288C>G) c.*434C>G (n.*434C>G) c.*177C>G (n.*177C>G) c.*290C>G (n.*290C>G) c.700C>G (p.Arg234Gly) c.217C>G (p.Arg73Gly) n.831C>G n.696C>G n.446C>G n.720C>G n.585C>G | ClinVar dbSNP |
| 17 | g.35103298G>A | CA287986 | RAD51D | c.559C>T (p.Arg187Ter) c.337C>T (p.Arg113Ter) c.754C>T (p.Arg252Ter) c.694C>T (p.Arg232Ter) c.358C>T (p.Arg120Ter) c.163C>T (p.Arg55Ter) c.*425C>T (n.*425C>T) c.*288C>T (n.*288C>T) c.*434C>T (n.*434C>T) c.*177C>T (n.*177C>T) c.*290C>T (n.*290C>T) c.700C>T (p.Arg234Ter) c.217C>T (p.Arg73Ter) n.831C>T n.696C>T n.446C>T n.720C>T n.585C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |