| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.43045767G>A | CA003674 | BRCA1 | c.5500C>T (p.Arg1834Ter) c.5503C>T (p.Arg1835Ter) c.5377C>T (p.Arg1793Ter) c.5497C>T (p.Arg1833Ter) c.5425C>T (p.Arg1809Ter) c.2191C>T (p.Arg731Ter) c.2053C>T (p.Arg685Ter) c.4615C>T (p.Arg1539Ter) c.5380C>T (p.Arg1794Ter) c.5569C>T (p.Arg1857Ter) c.5362C>T (p.Arg1788Ter) c.2065C>T (p.Arg689Ter) n.1386C>T n.867C>T c.5566C>T (p.Arg1856Ter) c.1890C>T c.2077C>T (p.Arg693Ter) c.*5286C>T (n.*5286C>T) c.*17C>T (n.*17C>T) c.433C>T (p.Arg145Ter) c.976C>T (p.Arg326Ter) c.202C>T (p.Arg68Ter) n.5639C>T n.5680C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 17 | g.43045767G>T | CA500142913 | BRCA1 | c.5500C>A (p.Arg1834=) c.5503C>A (p.Arg1835=) c.5377C>A (p.Arg1793=) c.5497C>A (p.Arg1833=) c.5425C>A (p.Arg1809=) c.2191C>A (p.Arg731=) c.2053C>A (p.Arg685=) c.4615C>A (p.Arg1539=) c.5380C>A (p.Arg1794=) c.5569C>A (p.Arg1857=) c.5362C>A (p.Arg1788=) c.2065C>A (p.Arg689=) n.1386C>A n.867C>A c.5566C>A (p.Arg1856=) c.1890C>A c.2077C>A (p.Arg693=) c.*5286C>A (n.*5286C>A) c.*17C>A (n.*17C>A) c.433C>A (p.Arg145=) c.976C>A (p.Arg326=) c.202C>A (p.Arg68=) n.5639C>A n.5680C>A | ClinVar dbSNP |
| 17 | g.43045767G>C | CA10590305 | BRCA1 | c.5500C>G (p.Arg1834Gly) c.5503C>G (p.Arg1835Gly) c.5377C>G (p.Arg1793Gly) c.5497C>G (p.Arg1833Gly) c.5425C>G (p.Arg1809Gly) c.2191C>G (p.Arg731Gly) c.2053C>G (p.Arg685Gly) c.4615C>G (p.Arg1539Gly) c.5380C>G (p.Arg1794Gly) c.5569C>G (p.Arg1857Gly) c.5362C>G (p.Arg1788Gly) c.2065C>G (p.Arg689Gly) n.1386C>G n.867C>G c.5566C>G (p.Arg1856Gly) c.1890C>G c.2077C>G (p.Arg693Gly) c.*5286C>G (n.*5286C>G) c.*17C>G (n.*17C>G) c.433C>G (p.Arg145Gly) c.976C>G (p.Arg326Gly) c.202C>G (p.Arg68Gly) n.5639C>G n.5680C>G | ClinVar dbSNP |