| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.61793698C>T | CA400482260 | BRIP1 | c.865G>A (p.Glu289Lys) c.1372G>A (p.Glu458Lys) c.*798G>A (n.*798G>A) n.3113G>A c.1150G>A (p.Glu384Lys) c.889G>A (p.Glu297Lys) c.829G>A (p.Glu277Lys) | dbSNP |
| 17 | g.61793698C>A | CA288517 | BRIP1 | c.865G>T (p.Glu289Ter) c.1372G>T (p.Glu458Ter) c.*798G>T (n.*798G>T) n.3113G>T c.1150G>T (p.Glu384Ter) c.889G>T (p.Glu297Ter) c.829G>T (p.Glu277Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.61793698C>G | CA400482259 | BRIP1 | c.865G>C (p.Glu289Gln) c.1372G>C (p.Glu458Gln) c.*798G>C (n.*798G>C) n.3113G>C c.1150G>C (p.Glu384Gln) c.889G>C (p.Glu297Gln) c.829G>C (p.Glu277Gln) | ClinVar dbSNP |